rs11130326 - NEK4
Magnitude 2.2 · 2 studies on file
Reported associations
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Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors - Unknown journal (n.d.) · Unknown authors · PubMed 36154123
ABSTRACT: Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30,000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aims of our research were to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources. Methods: We present new cross-ancestry meta-analyzed GWAS results involving up to 81,669 VTE cases from 30 studies, with replication of novel loci in independent populations and loci characterization through in silico genomic interrogations. Results: In our genetic discovery effort that included 55,330
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Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population - Unknown journal (n.d.) · Unknown authors · PubMed 40465716
ABSTRACT: We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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venous thromboembolism risk and prevention strategies Moderate
NEK4 variant rs11130326 is associated with venous thromboembolism risk; healthcare discussion guides personalized prevention based on additional risk factors
discuss with healthcare provider, especially before surgery or prolonged immobilization
Screening
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kidney function with eGFR and serum creatinine Moderate
NEK4 variant rs11130326 is associated with chronic kidney disease risk; periodic screening enables early detection and intervention
annually starting at age 30-40, or as recommended by physician