rs11719526 - TMEM40

Magnitude 2.2 · 1 study on file

Reported associations

• Meta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction - Unknown journal (n.d.) · Unknown authors · PubMed 32605384

  ABSTRACT: Background - Left ventricular ejection fraction (EF) is an indicator of cardiac function, usually assessed in individuals with heart failure and other cardiac conditions. Although family studies indicate that EF has an important genetic component with heritability estimates up to 0.61, to date only six EF-associated loci have been reported. Methods - Here, we conducted a genome-wide association study (GWAS) of EF in 26,638 adults from the GERA and the UK Biobank cohorts. Results - A meta-analysis combining results from GERA and UK Biobank identified a novel locus: TMEM40 on chromosome 3p25 (rs11719526; β=0.47 and P=3.10x10−8) that replicated in Biobank Japan and confirmed recent findings implicating the BAG3 locus on chromosome 10q26 in EF variation, with the strongest associa

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