rs113949240 - CABLES1, TMEM241

Magnitude 2.2 · 2 studies on file

Reported associations

• Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank. - Metabolic syndrome and related disorders (2021) · Lind L · PubMed 31928498

  The metabolic syndrome (MetS) is a description of a clustering of cardiometabolic risk factors in the same individual. This study searched for genetic loci associated with all five prespecified components of MetS to find a common pathophysiological link for this risk factor clustering. Using data from 291,107 individuals in the U.K. biobank, a genome-wide association study (GWAS) was performed versus each of the five components of the syndrome as continuous variables (glucose, systolic blood pressure, triglycerides, waist circumference, and high-density lipoprotein-cholesterol). Using false discovery rate <0.05, three loci were related to all five MetS components (rs7575523; nearest gene , rs3936511; intron of , and rs111970447; intron of ). Of those, seems the most interesting candidate f

• The genetics of a "femaleness/maleness" score in cardiometabolic traits in the UK biobank - Unknown journal (n.d.) · Unknown authors · PubMed 37277458

  ABSTRACT: We recently devised continuous "sex-scores" that sum up multiple quantitative traits, weighted by their respective sex-difference effect sizes, as an approach to estimating polyphenotypic "maleness/femaleness" within each binary sex. To identify the genetic architecture underlying these sex-scores, we conducted sex-specific genome-wide association studies (GWASs) in the UK Biobank cohort (females: n = 161,906; males: n = 141,980). As a control, we also conducted GWASs of sex-specific "sum-scores", simply aggregating the same traits, without weighting by sex differences. Among GWAS-identified genes, while sum-score genes were enriched for genes differentially expressed in the liver in both sexes, sex-score genes were enriched for genes differentially expressed

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.