rs113523948 - HLA-DQB1 - MTCO3P1
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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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus - Unknown journal (n.d.) · Unknown authors · PubMed 33272962
ABSTRACT: Objective Systemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain SLE heritability and their putative causal variants are rarely prioritised, which make challenging to elucidate disease biology. To detect new SLE loci and causal variants, we performed the largest genome-wide meta-analysis for SLE in East Asian populations. Methods We newly genotyped 10 029 SLE cases and 180 167 controls and subsequently meta-analysed them jointly with 3348 SLE cases and 14 826 controls from published studies in East Asians. We further applied a Bayesian statistical approach to localise the putative causal variants for SLE associations. Results We identified 113 genetic regions includ
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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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Genetic risk assessment for systemic lupus erythematosus Moderate
HLA-DQB1 variant confers approximately 1.78-fold increased SLE risk per allele; discussion with physician can guide appropriate screening and monitoring
Screening
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Systemic lupus erythematosus clinical indicators Moderate
Early detection enables timely intervention to prevent SLE-related organ damage; genetic predisposition increases clinical yield of monitoring
Annual assessment for symptoms; discuss baseline evaluation with physician