Expressive

rs11656174 - Y_RNA - POLRMTP1 x RPS18P12 - LINC02096

Magnitude 2.0 · 2 studies on file

Reported associations

  • Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline - Nature communications (2025) · Schoeler T, Pingault JB, Kutalik Z · 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%

  • Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease - Neurobiology of aging (2021) · Wang H, Yang J, Schneider JA, De Jager PL, Bennett DA, Zhang HY · PubMed 32450446

    ABSTRACT: Genome-wide association studies have identified many loci associated with Alzheimer's dementia. However, these variants only explain part of the heritability of Alzheimer's disease (AD). As genetic epistasis can be a major contributor to the "missing heritability" of AD, we conducted genome-wide epistasis screening for AD pathologies in two independent cohorts. First, we performed a genome-wide epistasis study of AD-related brain pathologies (Nmax = 1,318) in ROS/MAP. Candidate interactions were validated using cerebrospinal fluid biomarkers of AD in ADNI (Nmax = 1,128). Further functional analysis tested the association of candidate interactions with neuroimaging phenotypes. For tau and amyloid-β (Aβ) pathology, we identified 2,803 and 464 candidate SNP-SNP interaction

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