rs11735005 - AFAP1
Magnitude 2.2 · 2 studies on file
Reported associations
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Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline - Unknown journal (n.d.) · Unknown authors · PubMed 40374629
ABSTRACT: Large-scale genomic studies focusing on the genetic contribution to human aging have mostly relied on cross-sectional data. With the release of longitudinally curated aging phenotypes by the UK Biobank (UKBB), it is now possible to study aging over time at genome-wide scale. In this work, we evaluated the suitability of competing models of change in realistic simulation settings, performed genome-wide association scans on simulation-validated measures of age-related deweekcline, and followed up with LD-score regression and Mendelian Randomization (MR) analyses. Focusing on global cognitive and physical function, we observed marked differences between baseline function (θ) and accelerated decline (Δ). Both outcomes showed distinct heritability levels (e.g., 31.38% versus 3.15%
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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.
Discuss with your doctor
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aortic stenosis genetic predisposition Moderate
T allele is associated with 9% increased aortic stenosis risk (p=8e-15, OR=1.09, n=5.5M) and alters AFAP1 expression in whole blood and other tissues
Inform cardiologist and primary care physician of this genetic association for risk stratification
Screening
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baseline echocardiographic screening for aortic stenosis Moderate
Genetic variant in AFAP1 associated with 9% increased aortic stenosis risk per T allele (p=8e-15, n=5.5M), with strong GWAS evidence and functional evidence showing altered AFAP1 expression
Discuss with cardiologist regarding baseline or periodic echocardiography