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Last Posted: Apr 21, 2023
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The artificial sweetener erythritol and cardiovascular event risk.
Marco Witkowski et al. Nature medicine 2023 2

In initial untargeted metabolomics studies in patients undergoing cardiac risk assessment (n?=?1,157; discovery cohort), circulating levels of multiple polyol sweeteners, especially erythritol, were associated with incident (3 year) risk for major adverse cardiovascular events (MACE; includes death or nonfatal myocardial infarction or stroke). Subsequent targeted metabolomics analyses in independent US (n?=?2,149) and European (n?=?833) validation cohorts of stable patients undergoing elective cardiac evaluation confirmed this association (fourth versus first quartile adjusted hazard ratio (95% confidence interval), 1.80 (1.18–2.77) and 2.21 (1.20–4.07), respectively).

Gut microbial metabolism of 5-ASA diminishes its clinical efficacy in inflammatory bowel disease.
Raaj S Mehta et al. Nature medicine 2023 2

We developed a multi-omics workflow combining gut microbiome metagenomics, metatranscriptomics and metabolomics from the longitudinal IBDMDB cohort of 132 controls and patients with IBD. This associated 12 previously uncharacterized microbial acetyltransferases with 5-ASA inactivation, belonging to two protein superfamilies: thiolases and acyl-CoA N-acyltransferases. A cross-sectional analysis within the discovery cohort and subsequent prospective validation within the independent SPARC IBD cohort (n?=?208) found three of these microbial thiolases and one acyl-CoA N-acyltransferase to be epidemiologically associated with an increased risk of treatment failure among 5-ASA users.

Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.
Chen Yiheng et al. Nature genetics 2023 1 (1) 44-53

By conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, we identified associations with 690 metabolites at 248 loci and associations with 143 metabolite ratios at 69 loci. Integrating metabolite-gene and gene expression information identified 94 effector genes for 109 metabolites and 48 metabolite ratios. Using Mendelian randomization (MR), we identified 22 metabolites and 20 metabolite ratios having estimated causal effect on 12 traits and diseases.

Identification of serum metabolome signatures associated with retinal and renal complications of type 2 diabetes.
Tomofuji Yoshihiko et al. Communications medicine 2023 1 (1) 5

We profiled serum metabolites of persons with type 2 diabetes with both DR and DKD (N?=?141) and without complications (N?=?159) using a comprehensive non-targeted metabolomics approach with mass spectrometry. Based on the serum metabolite profiles, case–control comparisons and metabolite set enrichment analysis (MSEA) were performed. Here we show that five metabolites (cyclohexylamine, P?=?4.5?×?10-6; 1,2-distearoyl-glycero-3-phosphocholine, P?=?7.3?×?10-6; piperidine, P?=?4.8?×?10-4; N-acetylneuraminic acid, P?=?5.1?×?10-4; stearoyl ethanolamide, P?=?6.8?×?10-4) are significantly increased in those with the complications. MSEA identifies fatty acid biosynthesis as the type 2 diabetes complications-associated biological pathway (P?=?0.0020).

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.