325 hot topic(s) found with the query "Meta-analysis"
Reporting guidelines in medical artificial intelligence: a systematic review and meta-analysis
F Kolbinger et al, Comm Med, April 11, 2024
(Posted: Apr 12, 2024 9AM)
From the abstract: "AI reporting guidelines for medical research vary with respect to the quality of the underlying consensus process, breadth, and target research phase. Some guideline items such as reporting of study design and model performance recur across guidelines, whereas other items are specific to particular fields and research stages. Our analysis highlights the importance of reporting guidelines in clinical AI research and underscores the need for common standards that address the identified variations and gaps in current guidelines. Overall, this comprehensive overview could help researchers and public stakeholders reinforce quality standards for increased reliability, reproducibility, clinical validity, and public trust in AI research in healthcare. "
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Enrica Marchionni et al. Eur J Hum Genet 2024 3
(Posted: Mar 18, 2024 9AM)
From the abstract: "Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. Meta-analysis showed a substantial diagnostic improvement in performing Prenatal Genome-Wide Sequencing analysis (Exome or Genome) over karyotype and CMA in CNS anomalies. "
Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis
A Ahmad et al, Com Med January 22, 2024
(Posted: Jan 22, 2024 8AM)
From the abstract: " We conducted a systematic review and meta-analysis of longitudinal studies to identify potentially novel prognostic factors that may improve CVD risk prediction in T2D. Out of 9380 studies identified, 416 studies met inclusion criteria. Outcomes were reported for 321 biomarker studies, 48 genetic marker studies, and 47 risk score/model studies."
Opportunities and limitations of genomics for diagnosing bedaquiline-resistant tuberculosis: a systematic review and individual isolate meta-analysis
C Nimmo et al, Lancet Microbe, January 9, 2024
(Posted: Jan 10, 2024 8AM)
From the abstract: "Clinical bedaquiline resistance predominantly involves mutations in mmpR5 (Rv0678). However, mmpR5 resistance-associated variants (RAVs) have a variable relationship with phenotypic Mycobacterium tuberculosis resistance. We did a systematic review to assess the maximal sensitivity of sequencing bedaquiline resistance-associated genes and evaluate the association between RAVs and phenotypic resistance, using traditional and machine-based learning techniques. "
Systematic review and meta-analysis of AI-based conversational agents for promoting mental health and well-being
H Li, NPJ Digital Medicine, December 19, 2023
(Posted: Dec 20, 2023 9AM)
From the abstract: "Conversational artificial intelligence (AI), particularly AI-based conversational agents (CAs), is gaining traction in mental health care. Despite their growing usage, there is a scarcity of comprehensive evaluations of their impact on mental health and well-being. This systematic review and meta-analysis aims to fill this gap by synthesizing evidence on the effectiveness of AI-based CAs in improving mental health and factors influencing their effectiveness and user experience. "
Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals
H Zhou et al, Nature, December 6, 2023
(Posted: Dec 07, 2023 8AM)
From the abstract: "Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-related problems assessed with a questionnaire, is a leading cause of death and morbidity worldwide. Here we conducted a large cross-ancestry meta-analysis of PAU in 1,079,947 individuals (European, N?=?903,147; African, N?=?122,571; Latin American, N?=?38,962; East Asian, N?=?13,551; and South Asian, N?=?1,716 ancestries). We observed a high degree of cross-ancestral similarity in the genetic architecture of PAU and identified 110 independent risk variants. "
Including diverse populations enhances the discovery of type 2 diabetes loci
S Fatumo, Nat Rev Genetics, November 22, 2023
(Posted: Nov 22, 2023 9AM)
From the paper: "A recent multi-ancestry GWAS meta-analysis greatly advances our understanding of the genetic basis of T2D by encompassing a broad range of populations. The insights gained from this research provide a foundation for future functional investigations, therapeutic development and the translation of GWAS findings to improve global health outcomes for all, regardless of genetic background. "
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 10 (10) e2337484
(Posted: Oct 24, 2023 2PM)
From the abstract: " What genetic modifiers of sickle cell disease (SCD) are currently defined, and what are potential approaches to improve future studies?
In this systematic review and meta-analysis of 571 studies examining 29?670 individuals with SCD, 17?757 associations involving 1552 genes and 25 SCD phenotype categories were discovered; of these, only 173 associations met the study design, reporting, and phenotype or genotype harmonization required for meta-analysis. Gene variants regulating fetal hemoglobin and a-thalassemia were frequently identified, but other associations remained unconfirmed."
Participant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis
S Lim et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "Precision prevention involves using the unique characteristics of a particular group to determine their responses to preventive interventions. This study aimed to systematically evaluate the participant characteristics associated with responses to interventions in gestational diabetes mellitus (GDM) prevention. GDM prevention through metformin or lifestyle differs according to some individual characteristics. Future research should include trials commencing preconception and provide results disaggregated by a priori defined participant characteristics including social and environmental factors, clinical traits, and other novel risk factors to predict GDM prevention through interventions. "
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
Qing Li et al. JAMA Pediatr 2023 9
(Posted: Sep 12, 2023 7AM)
From the abstract: " What is the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in cases of short stature?
In this study, review of pertinent literature resulted in 10 cohorts comprising 1350 individuals for ES and 14 cohorts including 1070 individuals for CMA in meta-analysis. The diagnostic yield for ES and CMA was determined to be 27.1% and 13.6%, respectively. In this meta-analysis, the findings indicate that ES and CMA may prove useful tools in identifying molecular etiologies underlying short stature in affected individuals."
Systematic Evidence Review and Meta-Analysis of Outcomes associated with Cancer Genetic Counseling
JO Culver et al, Genetics in Medicine, September 6, 2023
(Posted: Sep 06, 2023 11AM)
From the abstract: "We conducted a systematic review and meta-analysis of 17 patient-reported and health services-related outcomes associated with pre- and post-test GC in GCRA in accordance with PRISMA guidelines and GRADE methodology. The true impact of GC on relevant outcomes is not known due to low quality or absent evidence. While a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry and risk perception, the certainty of this evidence was low according to GRADE methodology. "
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
N Wilcox et al, Nat Genetics, August 17, 2023
(Posted: Aug 18, 2023 7AM)
To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P?<?2.5?×?10-6): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1.
A Genetic Explanation for Why Some People Had Asymptomatic COVID-19
J Abbasi, JAMA, August 2, 2023
(Posted: Aug 02, 2023 6PM)
A recent study of COVID-19 infected individuals found that a common variant, or allele, known as HLA-B*15:01 was present in 20% of asymptomatic participants but only 9% of participants who reported symptoms. People with 2 copies of the variant, inherited from both parents, were more than 8 times as likely to not have symptoms than those who carried no copies. The variant also had a strong association with asymptomatic infection in 2 independent cohorts.
A meta-analysis of data from the discovery and independent cohorts found that asymptomatic infections were more than twice as common in people who carried the variant. The T cell analysis revealed that before the pandemic even began, participants with the variant had killer T cells that could effectively target SARS-CoV-2.
Gut OncoMicrobiome Signatures (GOMS) as next-generation biomarkers for cancer immunotherapy.
Andrew Maltez Thomas et al. Nat Rev Clin Oncol 2023 6
(Posted: Jul 17, 2023 8AM)
In this Review, we discuss how patients with cancer across various subtypes share several GOMS with individuals with seemingly unrelated chronic inflammatory disorders who, in turn, tend to have GOMS different from those of healthy individuals. We discuss findings from the aforementioned meta-analysis of GOMS patterns associated with clinical benefit from or resistance to ICIs across different cancer types (in 808 patients), with a focus on metabolic and immunological surrogate markers of intestinal dysbiosis, and propose practical guidelines to incorporate GOMS in decision-making for prospective clinical trials in immuno-oncology.
Systematic review and meta-analysis of the effectiveness of chatbots on lifestyle behaviours
B Singh et al, NPJ Digital Medicine
(Posted: Jun 24, 2023 10AM)
Nineteen trials were included. Sample sizes ranged between 25–958, and mean participant age ranged between 9–71 years. Most interventions (n?=?15, 79%) targeted physical activity, and most trials had a low-quality rating (n?=?14, 74%). Meta-analysis results showed significant effects (all p?<?0.05) of chatbots for increasing total physical activity (SMD?=?0.28 [95% CI?=?0.16, 0.40]), daily steps (SMD?=?0.28 [95% CI?=?0.17, 0.39]), MVPA (SMD?=?0.53 [95% CI?=?0.24, 0.83]), fruit and vegetable consumption (SMD?=?0.59 [95% CI?=?0.25, 0.93]), sleep duration (SMD?=?0.44 [95% CI?=?0.32, 0.55]) and sleep quality (SMD?=?0.50 [95% CI?=?0.09, 0.90]).
Risk of myocarditis and pericarditis in mRNA COVID-19-vaccinated and unvaccinated populations: a systematic review and meta-analysis.
Abdallah Alami et al. BMJ Open 2023 6 (6) e065687
(Posted: Jun 23, 2023 7AM)
Seven studies met the inclusion criteria, of which six were included in the quantitative synthesis. Our meta-analysis indicates that within 30-day follow-up period, vaccinated individuals were twice as likely to develop myo/pericarditis in the absence of SARS-CoV-2 infection compared to unvaccinated individuals, with a rate ratio of 2.05 (95% CI 1.49-2.82). Although the absolute number of observed myo/pericarditis cases remains quite low, a higher risk was detected in those who received mRNA COVID-19 vaccinations compared with unvaccinated individuals in the absence of SARS-CoV-2 infection.
Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM)
LM Ballard et al, EJHG, June 21, 2023
(Posted: Jun 21, 2023 7AM)
Whilst the finding of heritable susceptibility to disease was once relatively rare, mainstreaming of genetic testing has resulted in a steady increase. Patients are often encouraged to share their genetic test results with relevant relatives, but relatives may not receive this information, leaving them without knowledge of their own risk. Therefore, strategies to help communicate such information are important. This review aimed to explore the efficacy of existing interventions to improve the sharing of genetic test results.
Host genetic determinants of COVID-19 susceptibility and severity: A systematic review and meta-analysis.
Setegn Eshetie et al. Rev Med Virol 2023 6 e2466
(Posted: Jun 13, 2023 8AM)
The meta-analysis showed that a cluster of highly correlated 9 SNPs (R2 > 0.9) at 3p21.31 gene locus covering LZTFL1 and SLC6A20 genes was significantly associated with COVID-19 severity, with a pooled OR of 1.8 [1.5-2.0]. Meanwhile, another 3 SNPs (rs2531743-G, rs2271616-T, and rs73062389-A) within the locus was associated with COVID-19 susceptibility, with pooled estimates of 0.95 [0.93-0.96], 1.23 [1.19-1.27] and 1.15 [1.13-1.17], respectively.
Genetically adjusted PSA levels for prostate cancer screening.
Linda Kachuri et al. Nat Med 2023 6
(Posted: Jun 02, 2023 6AM)
In this study, we discovered 128 genome-wide significant associations (P?<?5?×?10-8) in a multi-ancestry meta-analysis of 95,768 men and developed a PSA polygenic score (PGSPSA) that explains 9.61% of constitutive PSA variation. Genetically adjusted PSA was more predictive of aggressive prostate cancer (odds ratio (OR)?=?3.44, P?=?6.2?×?10-14, area under the curve (AUC)?=?0.755) than unadjusted PSA (OR?=?3.31, P?=?1.1?×?10-12, AUC?=?0.738) in 106 cases and 23,667 controls. Compared to a prostate cancer PGS alone (AUC?=?0.712), including genetically adjusted PSA improved detection of aggressive disease (AUC?=?0.786, P?=?7.2?×?10-4). Our findings highlight the potential utility of incorporating PGS for personalized biomarkers in prostate cancer screening.
Polygenic prediction of preeclampsia and gestational hypertension.
Michael C Honigberg et al. Nat Med 2023 5
(Posted: May 30, 2023 6AM)
Here we tested the association of maternal DNA sequence variants with preeclampsia in 20,064 cases and 703,117 control individuals and with gestational hypertension in 11,027 cases and 412,788 control individuals across discovery and follow-up cohorts using multi-ancestry meta-analysis. Altogether, we identified 18 independent loci associated with preeclampsia/eclampsia and/or gestational hypertension, 12 of which are new (for example, MTHFR–CLCN6, WNT3A, NPR3, PGR and RGL3), including two loci (PLCE1 and FURIN) identified in the multitrait analysis.
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
EP Castineira et al, Nature, May 17, 2023
(Posted: May 17, 2023 0PM)
Here we analyze 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously.
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
C Ching et al, Genetics in Medicine, May 13, 2023
(Posted: May 14, 2023 9AM)
This meta-analysis aims to compare the diagnostic and clinical utility of whole-exome sequencing (WES) versus whole-genome sequencing (WGS) in pediatric and adult patients with rare diseases across diverse populations. One-hundred-and-sixty-one studies across 31 countries/regions were eligible, featuring 50,417 probands of diverse populations. Diagnostic rates of WES (0.38, 95% CI 0.36-0.40) and WGS (0.34, 95% CI 0.30-0.38) were similar.
Systematic review and meta-analysis of performance of wearable artificial intelligence in detecting and predicting depression
AA AlRazak et al, NPJ Digital Medicine, May 5, 2023
(Posted: May 05, 2023 10AM)
AI is a promising tool for depression detection and prediction although it is in its infancy and not ready for use in clinical practice. Until further research improve its performance, wearable AI should be used in conjunction with other methods for diagnosing and predicting depression. Further studies are needed to examine the performance of wearable AI based on a combination of wearable device data and neuroimaging data and to distinguish patients with depression from those with other diseases.
Knowledge and attitudes of medical and pharmacy students about pharmacogenomics: a systematic review and meta-analysis.
Chen Li et al. Pharmacogenomics J 2023 5
(Posted: May 05, 2023 10AM)
Fifteen studies (5509 students; 69% [95% confidence interval (CI): 60%, 77%] females) were included. Among students, 28% [95%CI: 12, 46] had adequate PGx knowledge; 65% [95%CI: 55, 75] were willing to have PGx test for their own risk assessment; 78% [95%CI: 71, 84] had intention to incorporate PGx in future practice; and 32% [95%CI: 21, 43] were satisfied with current PGx component of curriculum. Age, advanced year of educational program, and more time spent in PGx education were positively associated with PGx knowledge and positive attitudes.
Predicting vaccine effectiveness against severe COVID-19 over time and against variants: a meta-analysis.
Deborah Cromer et al. Nature communications 2023 3 (1) 1633
(Posted: Mar 27, 2023 7AM)
We find that predicted neutralising antibody titres are strongly correlated with observed vaccine effectiveness against symptomatic (Spearman [Formula: see text] = 0.95, p < 0.001) and severe (Spearman [Formula: see text] = 0.72, p < 0.001 for both) COVID-19 and that the loss of neutralising antibodies over time and to new variants are strongly predictive of observed vaccine protection against severe COVID-19.
Digital cognitive behavioral therapy for insomnia on depression and anxiety: a systematic review and meta-analysis
S Lee et al, NPJ Digital Medicine, March 25, 2023
(Posted: Mar 25, 2023 8AM)
Despite research into the development of digital cognitive behavioral therapy for insomnia (dCBT-I), research into the outcomes of dCBT-I on insomnia and the associated clinical conditions of depression and anxiety have been limited. The PubMed, PsycINFO (Ovid), Embase, and Cochrane databases were searched for randomized controlled trials (RCTs) on adult patients with insomnia also having reported measures of depressive or anxiety symptoms. We found that digital intervention for insomnia yielded significant effects on alleviating depressive and anxiety symptoms as well as insomnia symptoms. Specifically, the study demonstrated significant effects on the above symptoms when considering treatment adherence and implementing fully automated dCBT-I.
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
Nick Shrine et al. Nature genetics 2023 3 (3) 410-422
(Posted: Mar 15, 2023 6PM)
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by =2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023 3
(Posted: Mar 07, 2023 6PM)
Is the diagnostic yield of exome or genome sequencing in cerebral palsy similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as a first-tier clinical diagnostic test? In this systematic review and meta-analysis that included 13 studies and 2612 individuals with cerebral palsy, the diagnostic yield of exome or genome sequencing was 31.1%, which is similar to that of other neurodevelopmental disorders, regardless of comorbid intellectual disability/developmental delay.
All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing.
Clare van Eyk et al. JAMA pediatrics 2023 3
(Posted: Mar 07, 2023 6PM)
A recent meta-analysis provides strong data to justify the cost of genomic sequencing. The diagnostic yield for cerebral palsy is similar to other neurodevelopmental disorders, such as developmental delay, intellectual disability, and autism spectrum disorder, where genomic sequencing has been largely accepted as a first-tier test. Including genomic sequencing as a routine diagnostic test can circumvent lengthy, costly, and sometimes invasive clinical investigations to determine etiology where a clinical diagnosis of cerebral palsy has been made.
The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
Y Teng et al, J Per Med, March 4, 2023
(Posted: Mar 04, 2023 8AM)
The inadequate efficacy and adverse effects of antipsychotics severely affect the recovery of patients with schizophrenia spectrum disorders (SSD). We report the evidence for associations between pharmacogenetic (PGx) variants and antipsychotics outcomes, including antipsychotic response, antipsychotic-induced weight/BMI gain, metabolic syndrome, antipsychotic-related prolactin levels, antipsychotic-induced tardive dyskinesia (TD), clozapine-induced agranulocytosis (CLA), and drug concentration level (pharmacokinetics) in SSD patients.
Effectiveness of SARS-CoV-2 Vaccines against Omicron Infection and Severe Events: A Systematic Review and Meta-Analysis of Test-Negative Design Studies
S Song et al, MEDRXIV, February 17, 2023
(Posted: Feb 20, 2023 7AM)
One or two booster doses of current SARS-CoV-2 vaccines provide considerable protection against Omicron infection and substantial and sustainable protection against Omicron-induced severe clinical outcomes.
Association of COVID-19 Vaccination With Risk for Incident Diabetes After COVID-19 Infection.
Alan C Kwan et al. JAMA network open 2023 2 (2) e2255965
(Posted: Feb 16, 2023 6AM)
In this cohort study, COVID-19 infection was associated with increased risk of diabetes, consistent findings of a meta-analysis.1 Our results suggest that this risk persisted as the Omicron variant became predominant, and the association remained even after accounting for temporal confounders. Diabetes risk after COVID-19 infection was higher in unvaccinated than vaccinated patients, suggesting a benefit of vaccination.
Long-term effectiveness of COVID-19 vaccines against infections, hospitalisations, and mortality in adults: findings from a rapid living systematic evidence synthesis and meta-analysis up to December, 2022.
Nana Wu et al. The Lancet. Respiratory medicine 2023 2
(Posted: Feb 14, 2023 7AM)
Our analyses indicate that vaccine effectiveness generally decreases over time against SARS-CoV-2 infections, hospitalisations, and mortality. The baseline vaccine effectiveness levels for the omicron variant were notably lower than for other variants. Therefore, other preventive measures (eg, face-mask wearing and physical distancing) might be necessary to manage the pandemic in the long term.
How quickly does COVID immunity fade? What scientists know.
Cassandra Willyard et al. Nature 2023 2
(Posted: Feb 04, 2023 7AM)
Three years into the pandemic, the immune systems of the vast majority of humans have learnt to recognize SARS-CoV-2 through vaccination, infection or, in many cases, both. But just how quickly do these types of immunity fade? New evidence suggests that ‘hybrid’ immunity, the result of both vaccination and a bout of COVID-19, can provide partial protection against reinfection for at least eight months. It also offers greater than 95% protection against severe disease or hospitalization for between six months and a year after an infection or vaccination, according to estimates from a meta-analysis. Immunity acquired by booster vaccination alone seems to fade somewhat faster.
Declining Male Sperm Count Is at a Global Crisis Level
Medscape, January 30, 2023
(Posted: Jan 30, 2023 9AM)
A meta-analysis of sperm count in men on six continents shows an alarming decline that continues to accelerate, according to an international team of researchers. Overall, there is a significant worldwide decline in sperm counts of more than 50% in the past 46 years, a decline that has accelerated in recent years. Sperm count declines among men from South and Central America, Asia, Africa, North America, Europe, and Australia have accelerated in the last 5 years.
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.
Ghouse Jonas et al. Nature genetics 2023 1
(Posted: Jan 22, 2023 8AM)
We report a genome-wide association study of venous thromboembolism (VTE) incorporating 81,190?cases and 1,419,671?controls sampled from six cohorts. We identify 93?risk loci, of which 62 are previously unreported. Many of the identified risk loci are at genes encoding proteins with functions converging on the coagulation cascade or platelet function. A VTE polygenic risk score (PRS) enabled effective identification of both high- and low-risk individuals.
Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
K Miyazawa et al, Nature Genetics, January 19, 2023
(Posted: Jan 19, 2023 7AM)
Here we performed a genome-wide association study in the Japanese population comprising 9,826 cases among 150,272 individuals and identified East Asian-specific rare variants associated with AF. A cross-ancestry meta-analysis of >1 million individuals, including 77,690 cases, identified 35 new susceptibility loci. Transcriptome-wide association analysis identified IL6R as a putative causal gene, suggesting the involvement of immune responses.
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.
Fernandez-Rozadilla Ceres et al. Nature genetics 2022 12
(Posted: Dec 21, 2022 1PM)
We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC.
Prevalence of Olfactory Dysfunction with the Omicron Variant of SARS-CoV-2: A Systematic Review and Meta-analysis
CS von Bartheld et al, MEDRXIV, December 16, 2022
(Posted: Dec 17, 2022 9AM)
Our estimate of the omicron-induced prevalence of olfactory dysfunction in populations of European ancestry is 11.6%, while it is significantly lower in all other populations, at 2.9-5.4%. When ethnic differences and population sizes are taken into account, the global prevalence of omicron-induced hyposmia in adults is estimated at 5.2%. Omicron's effect on olfaction is 3-4fold lower than that of the alpha or delta variant,
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam et al, Nature Genetics, December 6, 2022
(Posted: Dec 06, 2022 0PM)
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci.
A systematic review and meta-analysis comparing the diagnostic accuracy tests of COVID-19
JJV Alosilla et al, MEDRXIV, November 29, 2022
(Posted: Nov 30, 2022 8AM)
Molecular tests [Reverse transcription polymerase chain reaction (RT-PCR), reverse transcription loop-mediated isothermal amplification (RT-LAMP), and clustered regularly interspaced short palindromic repeats (CRISPR)] showed better performance in terms of sensitivity and specificity when compared to serological tests.
Efficacy, Effectiveness and Safety of Vaccines Against COVID-19 for Children Aged 5-11 Years: A Living Systematic Review with Meta-Analysis
V Piechota et al, SSRN, November 18, 2022
(Posted: Nov 19, 2022 7AM)
VE against pre-Omicron variant SARS-CoV-2 infections was 73·0% (41%-87%, 1 RCT, CoE: moderate), while VE against Omicron variant SARS-CoV-2 infections was 41·9% (27·4%-53·5%, 6 non-randomized studies of interventions [NRSIs], CoE: moderate). Pre-Omicron VE against symptomatic COVID-19 was 86·7% (58·1-95·8%, 2 RCTs, CoE: moderate) and 38·7% (21·7%-52·1%, 5 NRSIs, CoE: moderate) after Omicron emergence.
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
R Stevelink et al, EBiomedicine, November 11, 2022
(Posted: Nov 13, 2022 6AM)
We found nine independent predictors of drug resistance: three seizure types, psychiatric comorbidities, catamenial epilepsy, epileptiform focality, ethnicity, history of CAE, family history of epilepsy, status epilepticus, and febrile seizures. Internal-external cross-validation of our multivariable model showed an area under the receiver operating characteristic curve of 0·70 (95%CI 0·68–0·72). Recurrence of seizures after ASM withdrawal (n = 368) was predicted by an earlier age at the start of withdrawal, shorter seizure-free interval and more currently used ASMs.
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.
Ishigaki Kazuyoshi et al. Nature genetics 2022 11
(Posted: Nov 06, 2022 8AM)
We present a large-scale genome-wide association study (GWAS) of RA, which includes 276,020 samples from five ancestral groups. We conducted a multi-ancestry meta-analysis and identified 124 loci (P?<?5?×?10-8), of which 34 are novel. Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues (for example, WISP1) in RA etiology. PRS based on multi-ancestry GWAS outperformed PRS based on single-ancestry GWAS and had comparable performance between populations of European and East Asian ancestries.
Bell's Palsy Following SARS-CoV-2 Vaccines: A Systematic Review and Meta-Analysis
A Rafati et al, MEDRXIV, October 26, 2022
(Posted: Oct 27, 2022 9AM)
Our meta-analysis suggests a higher incidence of BP among vaccinated vs. placebo groups. BP occurrence did not significantly differ between Pfizer/BioNTech and Oxford/AstraZeneca vaccines. SARS-CoV-2 infection posed a significantly greater risk for BP than SARS-CoV-2 vaccines.
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy A Systematic Review and Meta-analysis
S Srivastava et al, JAMA Neurology, October 24, 2022
(Posted: Oct 24, 2022 0PM)
What is the molecular diagnostic yield of exome sequencing and chromosomal microarray for cerebral palsy (CP)? Through a systematic review and meta-analysis of 15 exome-sequencing and 5 chromosomal microarray CP study cohorts comprising 2419 individuals from 11 articles and 294 individuals from 5 articles, respectively, the molecular diagnostic yield of these technologies was found to be 23% and 5%, respectively.
Meta-analysis of pharmacogenetic clinical decision support systems for the treatment of major depressive disorder
V Skryabin et al, The PGX journal, October 22, 2022
(Posted: Oct 24, 2022 10AM)
Publications referring to genotype-guided antidepressant therapy were identified. We found that studies comparing clinical outcomes between two groups of patients who received antidepressant treatment were included in meta-analysis. Analysis of the data revealed statistically significant differences between the experimental group receiving pharmacogenetically guided dosing and the empirically treated controls. Specifically, genotype-guided treatment significantly improved response and remission of patients after both eight and twelve weeks of therapy,
Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis
AK Al Mekkawi et al, J Per Med, September 28, 2022
(Posted: Sep 30, 2022 7AM)
We reviewed the literature for all papers discussing both NTDs and SNPs in the folate pathway. Data were represented through five different genetic models. Quality assessment was performed using the Newcastle–Ottawa Scale (NOS) and Cohen’s Kappa inter-rater coefficient assessed author agreement. Fifty-nine papers were included. SNPs in MTHFR, MTRR, RFC genes were found to be highly associated with NTD risk. NOS showed that high quality papers were selected, and Kappa Q-test was 0.86. Our combined results support the notion that SNPs significantly influence NTDs across the population, particularly in Asian ethnicity.
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Zhe et al. Nature genetics 2022 9
(Posted: Sep 08, 2022 6AM)
Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training.
Susceptibility and infectiousness of SARS-CoV-2 in children versus adults, by variant (wild-type, Alpha, Delta): a systematic review and meta-analysis of household contact studies
O Uthman et al, MEDRXIV< September 26, 2022
(Posted: Aug 27, 2022 6AM)
Study: Incubation times of SARS-CoV-2 variants fell over time
CIDRAP, University of Minnesota, August 22, 2022
(Posted: Aug 23, 2022 1PM)
As the dominant circulating strain of SARS-CoV-2 evolved from Alpha to Omicron, the incubation period from infection to symptoms or first positive COVID-19 test result gradually decreased, from 5 to 3.4 days, according to a systematic review and meta-analysis published today. The incubation period is the time from exposure to a pathogen like a virus to the time of first symptoms of the disease that the pathogen causes.
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer.
Kratz Christian P et al. Journal of the National Cancer Institute 2022 8
(Posted: Aug 19, 2022 11AM)
We conducted a meta-analysis of 11 studies that incorporated comprehensive germline testing for children and adolescents with cancer. ClinVar pathogenic/likely pathogenic variants (PVs) in genes of interest were compared to two control groups. Results were validated in a cohort of mainly European cases and controls.
Among 3,975 children/adolescents with cancer, significant associations with cancer risk were observed for PVs in BRCA1/2 (26 PVs vs 63 PVs among 27,501 controls, OR 2.78, 95%-CI 1.69—4.45, p<.001) and mismatch repair (MMR) genes (19 PVs vs 14 PVs among 27,501 controls, OR 7.33, 95%-CI 3.64—14.82, p<.001).
Diagnostic accuracy of telemedicine for detection of surgical site infection: a systematic review and meta-analysis
R Lathan et al, NPJ Digital Medicine, August 3, 2022
(Posted: Aug 03, 2022 6AM)
Summary sensitivity and specificity was 87.8% (95% CI, 68.4–96.1) and 96.8% (95% CI 93.5–98.4) respectively. The overall surgical site infection (SSI) rate was 5.6%. Photograph methods had lower sensitivity and specificity at 63.9% (95% CI 30.4–87.8) and 92.6% (95% CI, 89.9–94.5). Telemedicine is highly specific for SSI diagnosis is highly specific, giving rise to great potential for utilisation excluding SSI.
Cardiovascular safety of COVID-19 vaccines in real-world studies: a systematic review and meta-analysis
Y Chang et al, MEDRXIV, August 2, 2022
(Posted: Aug 03, 2022 6AM)
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
J Byun et al, Nature Genetics, August 1, 2022
(Posted: Aug 01, 2022 11AM)
To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to populations, but even common-variant associations influencing smoking behavior, such as those with CHRNA5 and CYP2A6, showed population specificity.
Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs
A Rebendenne et al, Nature Genetics, July 25, 2022
(Posted: Jul 25, 2022 5PM)
CRISPR knockout (KO) screens have identified host factors regulating severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) replication. Here, we conducted a meta-analysis of these screens, which showed a high level of cell-type specificity of the identified hits, highlighting the necessity of additional models to uncover the full landscape of host factors.
The Role of Children in SARS-CoV-2 Variant of Concerns Transmission within Households: A Meta-analysis
Y Zuo et al, MEDRXIV, July 22, 2022
(Posted: Jul 23, 2022 7AM)
We perform a meta-analysis of the role of children in the household transmission of both ancestral SARS-CoV-2 and SARS-CoV-2 VOCs. Unlike the ancestral virus, children infected with VOCs spread SARS-CoV-2 to an equivalent number of household contacts as infected adults. Similarly, unlike the ancestral virus, children within a household were equally as likely as adults to acquire SARS-CoV-2 from an infected family member. Interestingly, this same observation was noted when unvaccinated children exposed to VOCs were compared to unvaccinated adults exposed to VOCs. Together, these data suggest that the emergence of VOCs were associated with a fundamental shift in the epidemiology of SARS-CoV-2.
Past SARS-CoV-2 Infection Protection Against Reinfection: A Systematic Review and Meta-Analysis
COVID-19 Forecasting Team, SSRN, July 6, 2022
(Posted: Jul 09, 2022 11AM)
Our meta-analyses show that protection from recent infection and any symptomatic disease was high for ancestral, Alpha, Beta, and Delta variants but was substantially lower for the Omicron variant. Pooled effectiveness against reinfection by the Omicron variant was 38.8% (95% uncertainty interval [UI] 31.5–46.3) and 43.7% (18.4–74.4) against Omicron symptomatic disease. Mean pooled effectiveness was greater than 85% against severe disease (hospitalisation and death) for all variants, including Omicron. Protection from reinfection from ancestral, Alpha, and Delta variants declined over time but remained at 78.2% (38.9–95.1) at 40 weeks. Protection against reinfection by the Omicron variant declined more rapidly and was estimated at 29.0% (10.4–64.4) at 40 weeks.
Pharmacogenomics of Clozapine-induced agranulocytosis: a systematic review and meta-analysis.
Islam Farhana et al. The pharmacogenomics journal 2022 6
(Posted: Jun 20, 2022 10AM)
Results showed that individuals carrying the HLA-DRB1*04:02 allele had nearly sixfold (95% CI 2.20–15.80, pcorrected?=?0.03) higher odds of CIA with a negative predictive value of 99.3%. Previously unreplicated alleles, TNFb5, HLA-B*59:01, TNFb4, and TNFd3 showed significant associations with CIA after multiple-testing corrections. Our findings suggest that a predictive HLA-DRB1*04:02-based pharmacogenomic test may be promising for clinical implementation but requires further investigation.
Distributed learning for heterogeneous clinical data with application to integrating COVID-19 data across 230 sites
J Tong et al, NPJ Digital Medicine, June 14, 2022
(Posted: Jun 14, 2022 1PM)
We develop a distributed algorithm to integrate heterogeneous RWD from multiple clinical sites without sharing patient-level data. The proposed distributed conditional logistic regression (dCLR) algorithm can effectively account for between-site heterogeneity and requires only one round of communication. Our simulation study and data application with the data of 14,215 COVID-19 patients from 230 clinical sites in the UnitedHealth Group Clinical Research Database demonstrate that the proposed distributed algorithm provides an estimator that is robust to heterogeneity in event rates when efficiently integrating data from multiple clinical sites. Our algorithm is therefore a practical alternative to both meta-analysis and existing distributed algorithms for modeling heterogeneous multi-site binary outcomes.
Transcriptomics Meta-Analysis Predicts Two Robust Human Biomarkers for Severe Infection with SARS-CoV-2
J Clancy et al, MEDRXIV, June 6, 2022
(Posted: Jun 08, 2022 6AM)
Global reports of takotsubo (stress) cardiomyopathy following COVID-19 vaccination: a systematic review and meta-analysis
SK Ahmed et al, MEDRXIV, June 7, 2022
(Posted: Jun 08, 2022 6AM)
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Mahajan Anubha et al. Nature genetics 2022 5 (5) 560-572
(Posted: May 18, 2022 11AM)
We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 × 10-9), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability
Effectiveness of Covid-19 vaccines against SARS-CoV-2 Omicron variant (B.1.1.529): A systematic review with meta-analysis and meta-regression
NR Pratama et al, MEDRXIV, May 2, 2022
(Posted: May 03, 2022 7AM)
Compared to full dose only, a booster dose addition provides better protection against B.1.1.529 infection. Although the VE estimates of Ad26.COV2.S, BNT162b2, ChAdOx1 nCov-19, and mRNA-1273 vaccines against B.1.1.529 infection after both full and booster doses are generally moderate, and the booster dose provides excellent protection against severe infection, it is important to note that the VE estimates decline over time, suggesting the need for a regular Covid-19 booster injection after certain period of time to maintain VE.
Myopericarditis following COVID-19 vaccination and non-COVID-19 vaccination: a systematic review and meta-analysis
RR Ling et al, Lancet Resp Med, April 11, 2022
(Posted: Apr 12, 2022 0PM)
The overall risk of myopericarditis after receiving a COVID-19 vaccine is low. However, younger males have an increased incidence of myopericarditis, particularly after receiving mRNA vaccines. Nevertheless, the risks of such rare adverse events should be balanced against the risks of COVID-19 infection (including myopericarditis).
Safety of COVID-19 Vaccines During Pregnancy: A Systematic Review and Meta-Analysis
A Ciapponi et al, SSRN, April 1, 2022
(Posted: Apr 04, 2022 2PM)
We retrieved 8,837 records from the search strategy; 71 studies (61 clinical and 10 non-clinical studies, involving 17,719,495 pregnant persons and 389 pregnant animals, respectively) were included. Most studies (94%) were conducted in high-income countries and were cohort studies (51%). Less than 15% of studies were classified as high risk of bias. We identified nine COVID-19 vaccine studies, two preclinical studies, and seven involving 309,164 pregnant persons, mostly exposed to mRNA vaccines. Neither pregnancy outcomes nor reactogenicity exceeded the expected rates. The only exception was postpartum hemorrhage after COVID-19 vaccination reported by two studies. In conclusion, we found no safety concerns for currently administered COVID-19 vaccines during pregnancy.
Global Reports of Myocarditis Following COVID-19 Vaccination: A Systematic Review and Meta-Analysis
SK Ahmed et al, MEDRXIV, March 31, 2022
(Posted: Apr 01, 2022 7AM)
Prognostic factors for mortality, ICU and hospital admission due to SARS-CoV-2: A systematic review and meta-analysis of cohort studies in Europe
C Vardavas et al, MEDRXIV, March 24, 2022
(Posted: Mar 25, 2022 6AM)
Culturally adapting internet- and mobile-based health promotion interventions might not be worth the effort: a systematic review and meta-analysis
S Balci et al, NPJ Digital Medicine, March 23, 2022
(Posted: Mar 24, 2022 8AM)
Out of 9438 records, 13 randomized controlled trials (RCT) investigating culturally adapted health promotion IMI addressing healthy eating, physical activity, alcohol consumption, sexual health behavior, and smoking cessation included. From the included studies 10,747 participants were eligible. Culturally adapted IMI proved to be non-superior over active control conditions in short- (g?=?0.10, [95% CI -0.19 to 0.40]) and long-term (g?=?0.20, [95% CI -0.11 to 0.51]) in promoting health behavior. However, culturally adapted IMI for physical activity (k?=?3, N?=?296) compared to active controls yielded a beneficial effect in long-term (g?=?0.48, [95%CI 0.25 to 0.71]).
SARS-CoV-2 positivity in offspring and timing of mother-to-child transmission: living systematic review and meta-analysis.
Allotey John et al. BMJ (Clinical research ed.) 2022 3 e067696
(Posted: Mar 20, 2022 9AM)
GWAS and meta-analysis identifies multiple new genetic mechanisms underlying severe Covid-19.
EP Castineira et al, MEDRXIV, March 7, 2022
(Posted: Mar 08, 2022 7AM)
In this new data release from the GenOMICC (Genetics Of Mortality in Critical Care) study we include new microarray genotyping data from additional critically-ill cases in the UK and Brazil, together with cohorts of severe Covid-19 from the ISARIC4C and SCOURGE studies, and meta-analysis with previously-reported data. We find an additional \numconvincingnew new genetic associations. Many are in potentially druggable targets, in inflammatory signalling (JAK1, PDE4A), monocyte-macrophage differentiation (CSF2), immunometabolism (SLC2A5, AK5), and host factors required for viral entry and replication (TMPRSS2, RAB2A).
Diagnostic accuracy of mercurial versus digital blood pressure measurement devices: a systematic review and meta-analysis
M Muniyandi et al, Scientific Reports, March 1, 2022
(Posted: Mar 02, 2022 7AM)
The digital blood pressure monitoring has a moderate level of accuracy and the device can correctly distinguish hypertension with a pooled estimate sensitivity of 65.7% and specificity of 95.9%. After removing one study, which had very low sensitivity and very high specificity, the pooled sensitivity estimate was 79%, and the specificity was 91%. The meta-analysis of DOR suggests that the digital blood pressure monitor had moderate accuracy with a mercury sphygmomanometer. This will provide the clinician and patients with accurate information on blood pressure with which diagnostic and treatment decisions could be made.
Pharmacogenetic interventions to improve outcomes in patients with multimorbidity or prescribed polypharmacy: a systematic review
J Oshea et al, The PGX Journal, February 2022
(Posted: Feb 25, 2022 9AM)
Pharmacogenetics has potential as a component of medicines optimisation. Studies involving multi-medicine pharmacogenetics in adults with multimorbidity or polypharmacy, reporting on outcomes derived from relevant core outcome sets, were included in this systematic review. Narrative synthesis was undertaken to summarise the data; meta-analysis was inappropriate due to study heterogeneity. Fifteen studies of diverse design and variable quality were included. A small, randomised study involving pharmacist-led medicines optimisation, including pharmacogenetics, suggests this approach could have significant benefits for patients and health systems. However, due to study design heterogeneity and the quality of the included studies, it is difficult to draw generalisable conclusions.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J Barc et al, Nature Genetics, February 24, 2022
(Posted: Feb 25, 2022 9AM)
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population.
Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis
E Barba et al, The PGX journal, January 18, 2022
(Posted: Jan 18, 2022 7AM)
Azathioprine (AZA) and its metabolite, mercaptopurine (6-MP), are widely used immunosuppressant drugs. Polymorphisms in genes implicated in AZA/6-MP metabolism, reportedly, could account in part for their potential toxicity. In the present study we performed a systematic review and a meta-analysis, comprising 30 studies and 3582 individuals, to investigate the putative genetic association of two inosine triphosphatase (ITPA) polymorphisms with adverse effects in patients treated with AZA/6-MP.
Household secondary attack rates of SARS-CoV-2 by variant and vaccination status: an updated systematic review and meta-analysis
ZJ Madewell et al, MEDRXIV, January 11, 2022
(Posted: Jan 12, 2022 8AM)
Global Percentage of Asymptomatic SARS-CoV-2 Infections Among the Tested Population and Individuals With Confirmed COVID-19 Diagnosis- A Systematic Review and Meta-analysis
Q Ma et al, JAMA Network Open, December 14, 2021
(Posted: Dec 14, 2021 1PM)
What is the percentage of asymptomatic individuals with positive test results for SARS-CoV-2 among tested individuals and those with confirmed COVID-19 diagnosis? In this systematic review and meta-analysis of 95 unique studies with 29?776?306 individuals undergoing testing, the pooled percentage of asymptomatic infections was 0.25% among the tested population and 40.50% among the population with confirmed COVID-19. The high percentage of asymptomatic infections from this study highlights the potential transmission risk of asymptomatic infections in communities.
Disparities in COVID-19 Outcomes by Race, Ethnicity, and Socioeconomic Status
A Systematic-Review and Meta-analysis
S Magesh et al, JAMA Network Open, November 2021
(Posted: Nov 15, 2021 1PM)
n this systematic review and meta-analysis of 4.3 million patients from 68 studies, African American, Hispanic, and Asian American individuals had a higher risk of COVID-19 positivity and ICU admission but lower mortality rates than White individuals. Socioeconomic disparity and clinical care quality were associated with COVID-19 mortality and incidence in racial and ethnic minority groups. The area deprivation index was positively correlated with mortality rates in Asian American and Hispanic individuals (P?<?.001). Decreased access to clinical care was positively correlated with COVID-19 positivity in Hispanic individuals (P?<?.001) and African American individuals (P?<?.001).
Mapping the human genetic architecture of COVID-19: an update
The COVID-19 Host Genetics Initiative, MEDRXIV, November 11, 2021
(Posted: Nov 12, 2021 7AM)
The Coronavirus Disease 2019 (COVID-19) pandemic continues to pose a major public health threat especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity we formed the COVID19 Host Genetics Initiative. Here we present GWAS meta-analysis of up to 125,584 cases and over 2.5 million controls across 60 studies from 25 countries, adding 10 new genome-wide significant loci to the 13 we previously identified1. Genes in novel loci include SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.
Effectiveness of COVID-19 Vaccines and Post-vaccination SARS-COV 2 Infection, Hospitalization, and Mortality: a Systematic Review and Meta-analysis of Observational Studies
K Rahmani et al, MEDRXIV, November 3, 2021
(Posted: Nov 04, 2021 0PM)
Efficacy of COVID-19 vaccines in immunocompromised patients: A systematic review and meta-analysis
A Ryan et al, MEDRXIV, October 1, 2021
(Posted: Oct 02, 2021 7AM)
KRAS and BRAF Mutations in Stage II/III Colon Cancer: A Systematic Review and Meta-Analysis.
Formica Vincenzo et al. Journal of the National Cancer Institute 2021 9
(Posted: Sep 22, 2021 9AM)
This is a meta-analysis of adjuvant phase III trials in patients with stage II and III colon cancer with available data on the impact of KRAS/BRAF mutations on both disease-free survival (DFS) and overall survival (OS). Both KRAS and BRAF mutations were statistically significantly associated with both DFS and OS, with the mutation effect being enhanced by MSI adjustment. Effective adjuvant treatment for microsatellite stable BRAF or KRAS-mutated colon cancer represents an unmet clinical need.
Perturbations in Gut Microbiota Composition in Psychiatric Disorders: A Review and Meta-analysis.
Nikolova Viktoriya L et al. JAMA psychiatry 2021 9
(Posted: Sep 18, 2021 11AM)
This systematic review and meta-analysis found that gut microbiota perturbations were associated with a transdiagnostic pattern with a depletion of certain anti-inflammatory butyrate-producing bacteria and an enrichment of pro-inflammatory bacteria in patients with depression, bipolar disorder, schizophrenia, and anxiety.
Meta-analysis of rapid direct-to-PCR assays for the qualitative detection of SARS-CoV-2
RA Trevor et al, MEDRXIV, September 16, 2021
(Posted: Sep 17, 2021 6AM)
Meta-Analysis of Quality of Life in Cancer Patients Treated with Immune Checkpoint Inhibitors
BD Gonzales et al, JNCI, September 2021
(Posted: Sep 12, 2021 5PM)
Twenty-six of 20,323 publications met inclusion criteria. Global QOL did not change over time in patients treated with ICIs (k?=?26, n?=?6,974, P?=?.19). Larger improvements in global QOL was observed in patients receiving ICI vs. non-ICI regimens (k?=?16, ICI n?=?3,588, non-ICI n?=?2,948, P?<?.001). Physical functioning did not change in patients treated with ICIs (k?=?14, n?=?3,169, P=.47.
Effectiveness of vaccination against symptomatic and asymptomatic SARS-CoV-2 infection: a systematic review and meta-analysis
A Meggiolaro et al, MEDRXIV< August 28, 2021
(Posted: Aug 29, 2021 6AM)
The systematic review identified 27 studies eligible for the quantitative synthesis. Partially vaccinated individuals presented a RRR=73% (95%CI=59%-83%) for any positive SARS-CoV-2 PCR (RR=0.27) and a RRR=79% (95%CI=30%-93%) for symptomatic SARS-CoV-2 PCR (RR=0.21). Fully vaccinated individuals showed a RRR=94% (95%CI=88%-98%) for any SARS-CoV-2 positive PCR (RR=0.06) compared to unvaccinated. According to the subgroup meta-analysis, full BNT162b2 vaccination protocol achieved a RRR=84%-94% against any SARS-CoV-2 positive PCR and a RRR=68%-84% against symptomatic positive PCR.
The D614G virus mutation enhances anosmia in COVID-19 patients: Evidence from a systematic review and meta-analysis of studies from South Asia
CS von Barthled et al, MEDRXIV, August 12, 2021
(Posted: Aug 13, 2021 8AM)
Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis
P Hariharan et al, Scientific Reports, August 12, 2021
(Posted: Aug 12, 2021 7AM)
We performed gene and pathway-based association (GBA) tests on publicly available Coronary ARtery DIsease Genome wide Replication and Meta-analysis consortium Exome (n?=?120,575) and multi ancestry pan UK Biobank study (n?=?442,574) summary data using versatile gene-based association study (VEGAS2) and Multi-marker analysis of genomic annotation (MAGMA) to identify novel genes and pathways associated with CAD.
Asymptomatic SARS-CoV-2 infection: A systematic review and meta-analysis
P Sah et al, PNAS, August 2021
(Posted: Aug 10, 2021 11PM)
By analyzing over 350 papers, we estimated that more than one-third of infections are truly asymptomatic. We found evidence of greater asymptomaticity in children compared with the elderly, and lower asymptomaticity among cases with comorbidities compared to cases with no underlying medical conditions. Greater asymptomaticity at younger ages suggests that heightened vigilance is needed among these individuals, to prevent spillover into the broader community.
New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations
F Degenhardt et al, MEDRXIV, July 23, 2021
(Posted: Jul 24, 2021 8AM)
We describe an extended GWAS meta-analysis of 3,260 COVID-19 patients with respiratory failure and 12,483 population controls from Italy, Spain, Norway and Germany, as well as hypothesis-driven targeted analysis of the human leukocyte antigen (HLA) region and chromosome Y haplotypes. We include detailed stratified analyses based on age, sex and disease severity. In addition to already established risk loci, our data identify and replicate two genome-wide significant loci at 17q21.31 and 19q13.33 associated with severe COVID-19 with respiratory failure.
The landscape of driver mutations in cutaneous squamous cell carcinoma
D Chang et al, NPJ Genomic Medicine, July 16, 2021
(Posted: Jul 17, 2021 7AM)
Compared to other cancer subtypes with similar incidences and death tolls, our understanding of the somatic mutations driving cutaneous squamous cell carcinoma is limited. The main challenge is that these tumors have high mutation burdens, primarily a consequence of UV-radiation-induced DNA damage from sunlight, making it difficult to distinguish driver mutations from passenger mutations. We overcame this challenge by performing a meta-analysis of publicly available sequencing data covering 105 tumors from 10 different studies.
Development and validation of a risk prediction model of preterm birth for women with preterm labour symptoms (the QUIDS study): A prospective cohort study and individual participant data meta-analysis.
Stock Sarah J et al. PLoS medicine 2021 7 (7) e1003686
(Posted: Jul 14, 2021 7AM)
In this study, we found that a risk prediction model including vaginal fFN concentration and clinical risk factors showed promising performance in the prediction of spontaneous preterm birth within 7 days of test and has potential to inform management decisions for women with threatened preterm labor. Further evaluation of the risk prediction model in clinical practice is required to determine whether the risk prediction model improves clinical outcomes if used in practice.
Which children and young people are at higher risk of severe disease and death after SARS-CoV-2 infection: a systematic review and individual patient meta-analysis
R Harwood et al, MEDRXIV, July 8, 2021
(Posted: Jul 09, 2021 7AM)
Association Between Administration of IL-6 Antagonists and Mortality Among Patients Hospitalized for COVID-19: A Meta-analysis.
et al. JAMA 2021 7
(Posted: Jul 07, 2021 7AM)
In this prospective meta-analysis of clinical trials of patients hospitalized for COVID-19, administration of IL-6 antagonists, compared with usual care or placebo, was associated with lower 28-day all-cause mortality.
Genetics of substance use disorders in the era of big data
J Gelernter et al, Nat Rev Genetics, July 1, 2021
(Posted: Jul 02, 2021 7AM)
The past few years have seen remarkable progress in our understanding of the genetics, and therefore the biology, of substance use and abuse. Various studies — including of well-defined phenotypes in deeply phenotyped samples, as well as broadly defined phenotypes in meta-analysis and biobank samples — have revealed multiple risk loci for these common traits
The accuracy of saliva versus nasopharyngeal and/or oropharyngeal samples for the detection of SARS-CoV-2 in children. A rapid systematic review and meta-analysis
SK Dhillon et al, MEDRXIV, June 26, 2021
(Posted: Jun 27, 2021 7AM)
Universal Genetic Testing Is Far From a Reality in Patients With Ovarian Cancer
V Forster, Cancer Therapy Advisor, June 2021
(Posted: Jun 14, 2021 8AM)
Rates of genetic testing in ovarian cancer “remain well below the goal of universal testing,” according to authors of a systematic review and meta-analysis. For many years now, the recommendation from multiple organizations, including the Society of Gynecologic Oncology, has been for universal genetic assessment of women with ovarian cancer.
Clinical Value of Consensus Molecular Subtypes in Colorectal Cancer: A Systematic Review and Meta-Analysis
ST Hoorn et al, JNCI, June 2021
(Posted: Jun 07, 2021 8AM)
The consensus molecular subtypes (CMSs) of colorectal cancer (CRC) capture tumor heterogeneity at the gene-expression level. Currently, a restricted number of molecular features are used to guide treatment for CRC. We summarize the evidence on the clinical value of the CMSs.
Diagnostic accuracy of deep learning in medical imaging: a systematic review and meta-analysis
R Aggarwal et al, NPJ Digital Medicine, April 7, 2021
(Posted: Apr 09, 2021 7AM)
Heterogeneity was high between studies and extensive variation in methodology, terminology and outcome measures was noted. This can lead to an overestimation of the diagnostic accuracy of DL algorithms on medical imaging. There is an immediate need for the development of artificial intelligence-specific EQUATOR guidelines, particularly STARD, in order to provide guidance around key issues in this field.
Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis
The COVID-19 Host Genetics Initiative, MEDRXIV, March 12, 2021
(Posted: Mar 12, 2021 2PM)
We formed a global network of researchers to investigate the role of human genetics in SARS-COV-2 infection and COVID-19 severity. We describe the results of three genome-wide association meta-analyses comprising 49,562 COVID-19 patients from 46 studies across 19 countries worldwide. We reported 15 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19.
