Expressive

rs10503871 - GTF2E2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis - Unknown journal (n.d.) · Unknown authors · PubMed 38632349

    ABSTRACT: We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One of these, PNPLA3 p.Ile148Met, interacts with alcohol intake, obesity and diabetes on the risk of cirrhosis and hepatocellular carcinoma (HCC). We develop a polygenic risk score that associates with the progression from cirrhosis to HCC. By focusing on prioritized genes from c

  • Genome-Wide Association Study of a Heart Failure-Related Metabolomic Profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study - Unknown journal (n.d.) · Unknown authors · PubMed 23934736

    ABSTRACT: Both the prevalence and incidence of heart failure (HF) are increasing, especially among African-Americans, but no large-scale, genome-wide association study (GWAS) of HF-related metabolites have been reported. We sought to identify novel genetic variants that are associated with metabolites previously reported to relate to HF incidence. GWASs of three metabolites identified previously as risk factors for incident HF (pyroglutamine, dihydroxy docosatrienoic acid and X-11787, being either hydroxy-leucine or hydroxy-isoleucine) were performed in 1260 African-Americans free of HF at the baseline examination of the Atherosclerosis Risk in Communities (ARIC) study. A significant association on chromosome 5q33 (rs10463316, MAF = 0.358, p-value = 1.92×10−10) was identified for pyrogl

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