rs10947789 - KCNK5
Magnitude 2.2 · 2 studies on file
Reported associations
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Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease - Unknown journal (n.d.) · Unknown authors · PubMed 29212778
ABSTRACT: Supplemental Digital Content is available in the text. Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and environmental factors. Ninety-seven genetic risk loci have been identified to date, but the identification of additional susceptibility loci might be important to enhance our understanding of the genetic architecture of CAD. Objective: To expand the number of genome-wide significant loci, catalog functional insights, and enhance our understanding of the genetic architecture of CAD. Methods and Results: We performed a genome-wide association study in 34 541 CAD cases and 261 984 controls of UK Biobank resource followed by replication in 88 192 cases and 162 544 controls from CARDIoGRAMplusC4D. We identified 75 loci that replicated and
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A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria - Unknown journal (n.d.) · Unknown authors · PubMed 30547231
ABSTRACT: Aims/hypothesis Identifying rare coding variants associated with albuminuria may open new avenues for preventing chronic kidney disease and end-stage renal disease, which are highly prevalent in individuals with diabetes. Efforts to identify genetic susceptibility variants for albuminuria have so far been limited, with the majority of studies focusing on common variants. Methods We performed an exome-wide association study to identify coding variants in a two-stage (discovery and replication) approach. Data from 33,985 individuals of European ancestry (15,872 with and 18,113 without diabetes) and 2605 Greenlanders were included. Results We identified a rare (minor allele frequency [MAF]: 0.8%) missense (A1690V) variant in CUBN (rs141640975, β = 0.27, p = 1.3 × 10−
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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coronary artery disease and myocardial infarction risk High
rs10947789 T-allele is genome-wide significantly associated with coronary artery disease risk, particularly myocardial infarction phenotype.
Discuss baseline cardiovascular risk assessment and establish screening protocol with healthcare provider.
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urine albumin-to-creatinine ratio (ACR) Low
rs10947789 C-allele is suggestively associated with increased urinary albumin excretion, reflecting glomerular and tubular kidney function.
Include urinary ACR testing in annual kidney function assessment.