rs10025351 - SHROOM3
Magnitude 2.2 · 2 studies on file
Reported associations
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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
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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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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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aortic stenosis screening with echocardiography Moderate
C allele at rs10025351 is associated with increased aortic stenosis risk (1.03x odds); carriers warrant screening evaluation.
Discuss baseline transthoracic echocardiography with your cardiologist; follow-up interval based on findings.
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kidney function with eGFR testing Moderate
T allele at rs10025351 is associated with higher kidney function (eGFR); non-T carriers have genetically lower eGFR.
Annual eGFR via serum creatinine; more frequent if eGFR is below 60 mL/min/1.73m2.