Expressive

rs10882102 - HHEX - Y_RNA

Magnitude 2.0 · 3 studies on file

Reported associations

  • Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation - Unknown journal (n.d.) · Unknown authors · PubMed 38965376

    ABSTRACT: Data within biobanks capture broad yet detailed indices of human variation, but biobank-wide insights can be difficult to extract due to complexity and scale. Here, using large-scale factor analysis, we distill hundreds of variables (diagnoses, assessments and survey items) into 35 latent constructs, using data from unrelated individuals with predominantly estimated European genetic ancestry in UK Biobank. These factors recapitulate known disease classifications, disentangle elements of socioeconomic status, highlight the relevance of psychiatric constructs to health and improve measurement of pro-health behaviours. We go on to demonstrate the power of this approach to clarify genetic signal, enhance discovery and identify associations between underlying phenotypic structure and

  • Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes - Unknown journal (n.d.) · Unknown authors · PubMed 39379762

    ABSTRACT: Type 2 diabetes (T2D) genome-wide association studies (GWASs) often overlook rare variants as a result of previous imputation panels' limitations and scarce whole-genome sequencing (WGS) data. We used TOPMed imputation and WGS to conduct the largest T2D GWAS meta-analysis involving 51,256 cases of T2D and 370,487 controls, targeting variants with a minor allele frequency as low as 5 × 10−5. We identified 12 new variants, including a rare African/African American-enriched enhancer variant near the LEP gene (rs147287548), associated with fourfold increased T2D risk. We also identified a rare missense variant in HNF4A (p.Arg114Trp), associated with eightfold increased T2D risk, previously reported in maturity-onset diabetes of the young with reduced penetrance, but observed

  • Causal relationship and shared genetic loci between psoriasis and type 2 diabetes through trans-disease meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 33385400

    ABSTRACT: Psoriasis and type 2 diabetes (T2D) are complex conditions with significant impact on health. Psoriasis patients have higher risk of type 2 diabetes (~1.5 Odds Ratio) and vice versa, controlling for body mass index (BMI), yet there has been limited study comparing their genetic architecture. We hypothesized there are shared genetic components between psoriasis and T2D. Trans-disease meta-analysis (TDMA) was applied to 8,016,731 well-imputed genetic markers from large-scale meta-analyses of psoriasis (11,024 cases and 16,336 controls) and T2D adjusted for BMI (74,124 cases and 824,006 controls). We confirmed our findings in a hospital-based study (42,112 patients) and tested for causal relationships with multi-variable Mendelian randomization. Mendelian randomization identified a

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