Last data update: May 06, 2024. (Total: 46732 publications since 2009)
Records 1-3 (of 3 Records) |
Query Trace: Ghaji N[original query] |
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Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia.
Bean CJ , Boulet SL , Yang G , Payne AB , Ghaji N , Pyle ME , Hooper WC , Bhatnagar P , Keefer J , Barron-Casella EA , Casella JF , Debaun MR . Br J Haematol 2013 163 (2) 268-76 Genetic diversity at the human beta-globin locus has been implicated as a modifier of sickle cell anaemia (SCA) severity. However, haplotypes defined by restriction fragment length polymorphism sites across the beta-globin locus have not been consistently associated with clinical phenotypes. To define the genetic structure at the beta-globin locus more thoroughly, we performed high-density single nucleotide polymorphism (SNP) mapping in 820 children who were homozygous for the sickle cell mutation (HbSS). Genotyping results revealed very high linkage disequilibrium across a large region spanning the locus control region and the HBB (beta-globin gene) cluster. We identified three predominant haplotypes accounting for 96% of the betaS -carrying chromosomes in this population that could be distinguished using a minimal set of common SNPs. Consistent with previous studies, fetal haemoglobin level was significantly associated with betaS -haplotypes. After controlling for covariates, an association was detected between haplotype and rate of hospitalization for acute chest syndrome (ACS) (incidence rate ratio 0.51, 95% confidence interval 0.29-0.89) but not incidence rate of vaso-occlusive pain or presence of silent cerebral infarct (SCI). Our results suggest that these SNP-defined betaS -haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA. |
Trends in venous thromboembolism among pregnancy-related hospitalizations, United States, 1994-2009
Ghaji N , Boulet SL , Tepper N , Hooper WC . Am J Obstet Gynecol 2013 209 (5) 433 e1-8 OBJECTIVES: To evaluate national trends in the rate of pregnancy-related hospitalizations with venous thromboembolism (VTE) between 1994 and 2009 and estimate the prevalence of co-morbid conditions among these hospitalizations. STUDY DESIGN: An estimated 64,413,973 pregnancy-related hospitalizations among women 15-44 years of age were identified in the 1994-2009 Nationwide Inpatient Sample. Trends in VTE-associated pregnancy hospitalizations were evaluated using variance-weighted least squares regression. Chi-square tests were used to assess changes in prevalence of demographics and co-morbid conditions, and multivariable logistic regression was used to evaluate the likelihood of VTE during the study period after adjusting for co-morbid conditions. Antepartum, delivery, and postpartum hospitalizations were evaluated separately and reported using 4-year increments. RESULTS: From 1994-2009, there was a 14% increase in the rate of overall VTE-associated pregnancy hospitalizations while antepartum and postpartum hospitalizations with VTE increased by 17% and 47% respectively. Between 1994-1997 and 2006-2009, the prevalence of hypertension and obesity doubled among all VTE-associated pregnancy hospitalizations; significant increases in diabetes and heart disease were also noted. A temporal increase in the likelihood of a VTE diagnosis in pregnancy was observed for antepartum hospitalizations during 2006-2009 when compared with 1994-1997 (aOR 1.62, 95% CI 1.48-1.78). CONCLUSIONS: There has been an upward trend in VTE-associated pregnancy hospitalizations from 1994-2009 with concomitant increases in co-morbid conditions. Clinicians should have a heightened awareness of the risk of VTE among pregnant women particularly among those with co-morbid conditions, and have a low threshold for evaluation in women with symptoms or signs of VTE. |
Increased risk of venous thromboembolism is associated with genetic variation in heme oxygenase-1 in Blacks.
Bean CJ , Boulet SL , Ellingsen D , Trau H , Ghaji N , Hooper WC , Austin H . Thromb Res 2012 130 (6) 942-7 BACKGROUND: Venous thromboembolism (VTE) affects as many as 1 in 1000 individuals in the United States. Although Blacks are disproportionately affected by VTE, few genetic risk factors have been identified in this population. The inducible heme oxygenase-1 (HMOX1) gene encodes a key cytoprotective enzyme with anti-inflammatory, antioxidant and anticoagulant activity acting in the vascular system. A (GT)(n) microsatellite located in the promoter of the HMOX1 gene influences the level of response. METHODS AND RESULTS: Using the Genetic Attributes and Thrombosis Epidemiology (GATE) study, we examined the association between HMOX1 repeat length and VTE events in 883 Black and 927 White patients and matched controls. We found no association between HMOX1 genotypes and VTE in Whites. However, in Black patients, carrying two long (L) alleles (≥34 repeats) was significantly associated with provoked (odds ratio (OR) 1.86, 95% confidence interval (CI): 1.19-2.90) or recurrent (OR 3.13, 95% CI: 1.77-5.53) VTE events. CONCLUSIONS: We have demonstrated for the first time an association between genetic variation in HMOX1, and VTE in Blacks. Our results support a key role for the heme oxygenase system in protecting patients at increased risk for thrombosis and suggest a potential mechanism for targeted screening and intervention. |
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