rs11741640 - RGS14

Magnitude 2.2 · 5 studies on file

Reported associations

• Genetic Variants Associated with Circulating Fibroblast Growth Factor 23. - Journal of the American Society of Nephrology : JASN (2019) · Robinson-Cohen C, Bartz TM, Lai D, Ikizler TA, Peacock M, Imel EA, Michos ED, Foroud TM, Akesson K, Taylor KD, Malmgren L, Matsushita K, Nethander M, Eriksson J, Ohlsson C, Mellström D, Wolf M, Ljunggren O, McGuigan F, Rotter JI, Karlsson M, Econs MJ, Ix JH, Lutsey PL, Psaty BM, de Boer IH, Kestenbaum BR · PubMed 30217807

  Fibroblast growth factor 23 (FGF23), a bone-derived hormone that regulates phosphorus and vitamin D metabolism, contributes to the pathogenesis of mineral and bone disorders in CKD and is an emerging cardiovascular risk factor. Central elements of FGF23 regulation remain incompletely understood; genetic variation may help explain interindividual differences. We performed a meta-analysis of genome-wide association studies of circulating FGF23 concentrations among 16,624 participants of European ancestry from seven cohort studies, excluding participants with eGFR<30 ml/min per 1.73 m to focus on FGF23 under normal conditions. We evaluated the association of single-nucleotide polymorphisms (SNPs) with natural log-transformed FGF23 concentration, adjusted for age, sex, study site, and principa

• Large scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32514122

  ABSTRACT: The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 x 10−9). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 associated with coronary artery disease and p.V326A of POT1 associated with lung cancer. We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and

• Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 40229599

  ABSTRACT: Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perform GWAS meta-analyses across seven cohorts in up to 42,629 cases and 740,619 controls and identify 25 genetic risk loci for male and female infertility. We additionally identify up to 269 genetic loci associated with follicle-stimulating hormone, luteinizing hormone, estradiol and testosterone through sex-specific GWAS meta-analyses (n = 6,095-246,862). Exome sequencing analyses reveal that women carrying testosterone-lowering rare variants in some genes are at risk of infertility. However, we find no local or genome-wide genetic correlation between female infertility and reproductive hormones. While infertility is genetically correlated with endometriosis and polycystic ovary

• Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants - Unknown journal (n.d.) · Unknown authors · PubMed 37919891

  ABSTRACT: Background Chronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome-wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry. Methods We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results More than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10-8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using b

• Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction - Unknown journal (n.d.) · Unknown authors · PubMed 41419686

  ABSTRACT: Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polyg

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