Expressive

rs12201149 - SCAF8, TIAM2

Magnitude 2.0 · 2 studies on file

Reported associations

  • Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation - Nature human behaviour (2024) · Carey CE, Shafee R, Wedow R, Elliott A, Palmer DS, Compitello J, Kanai M, Abbott L, Schultz P, Karczewski KJ, Bryant SC, Cusick CM, Churchhouse C, Howrigan DP, King D, Davey Smith G, Neale BM, Walters RK, Robinson EB · 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

  • Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema - Human molecular genetics (2020) · Johansson Å, Rask-Andersen M, Karlsson T, Ek WE · PubMed 31361310

    ABSTRACT: Abstract Even though heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors, previous studies have not explained a large part of the genetics behind these diseases. In this genome-wide association study, we include 346 545 Caucasians from the UK Biobank to identify novel loci for asthma, hay fever and eczema and replicate novel loci in three independent cohorts. We further investigate if associated lead single nucleotide polymorphisms (SNPs) have a significantly larger effect for one disease compared to the other diseases, to highlight possible disease-specific effects. We identified 141 loci, of which 41 are novel, to be associated (P ≤ 3 × 10−8) with asthma, hay fever or eczema, analyzed separately or as dis

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.