rs112032422 - SMARCA4 - LDLR

Magnitude 2.2 · 3 studies on file

Reported associations

• Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism. - Diabetes (2022) · Li-Gao R, Hughes DA, van Klinken JB, de Mutsert R, Rosendaal FR, Mook-Kanamori DO, Timpson NJ, Willems van Dijk K · PubMed 34610981

  Humans spend the greater part of the day in a postprandial state. However, the genetic basis of postprandial blood measures is relatively uncharted territory. We examined the genetics of variation in concentrations of postprandial metabolites ( = 150 min) in response to a liquid mixed meal through genome-wide association studies (GWAS) performed in the Netherlands Epidemiology of Obesity (NEO) study ( = 5,705). The metabolite response GWAS identified an association between glucose change and rs10830963:G in the melatonin receptor 1B (β [SE] -0.23 [0.03], = 2.15 × 10 ). In addition, the locus led by rs458741:C showed strong associations with extremely large VLDL (XXLVLDL) particle response (XXLVLDL total cholesterol: β [SE] 0.17 [0.03], = 5.76 × 10 ; XXLVLDL cholesterol ester: β [SE] 0

• Large-scale genome-wide association study of coronary artery disease in genetically diverse populations - Unknown journal (n.d.) · Unknown authors · PubMed 35915156

  ABSTRACT: We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter million cases, in which existing studies are integrated with data from cohorts of White, Black, and Hispanic individuals from the Million Veteran Program. We document near equivalent heritability of CAD across multiple ancestral groups, identify 95 novel loci, including the first nine to be identified on the X-chromosome, detect the first eight genome-wide significant loci among Blacks and Hispanics, and demonstrate that two common haplotypes at the 9p21 locus are responsible for risk stratification in all populations except those of African origin, where these haplotypes are virtually absent. Moreover, in the largest GWAS for angiographically derived coronary atherosc

• Rare and common genetic determinants of metabolic individuality and their effects on human health - Unknown journal (n.d.) · Unknown authors · PubMed 36357675

  ABSTRACT: Garrod's concept of 'chemical individuality' has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals and identified 2,599 variant-metabolite associations (P < 1.25 × 10−11) within 330 genomic regions, with rare variants (minor allele frequency ≤ 1%) explaining 9.4% of associations. Jointly modeling metabolites in each region, we identified 423 regional, co-regulated, variant-metabolite clusters called genetically influenced metabotypes. We assigned causal genes for 62.4% of these genetically influenced meta

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