Expressive

rs12023489 - DOCK7

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci - Unknown journal (n.d.) · Unknown authors · PubMed 34503513

    ABSTRACT: Background Genetic, lifestyle, and environmental factors can lead to perturbations in circulating lipid levels and increase the risk of cardiovascular and metabolic diseases. However, how changes in individual lipid species contribute to disease risk is often unclear. Moreover, little is known about the role of lipids on cardiovascular disease in Pakistan, a population historically underrepresented in cardiovascular studies. Methods We characterised the genetic architecture of the human blood lipidome in 5662 hospital controls from the Pakistan Risk of Myocardial Infarction Study (PROMIS) and 13,814 healthy British blood donors from the INTERVAL study. We applied a candidate causal gene prioritisation tool to link the genetic variants associated with each lipid to the most likely

  • Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people - Unknown journal (n.d.) · Unknown authors · PubMed 35998220

    ABSTRACT: Significance Our unique capacities for spoken and written language are fundamental features of what makes us human, yet the biological bases remain largely mysterious. We present a large-scale well-powered genome-wide association study meta-analysis of individual differences in reading- and language-related skills (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in tens of thousands of participants. The findings prompt a major reevaluation of prior literature claiming candidate gene associations in much smaller samples. Moreover, we use the novel genetic data as windows into multiple aspects of the biology of these important abilities, revealing molecular links to individual differences in neuroanatomy of language-related brain areas and enrich

  • A genetic map of human metabolism across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 41044249

    ABSTRACT: Genetic studies of human metabolism have been limited in scale and allelic breadth. Here we provide a data-driven map of the genetic regulation of circulating small molecules and lipoprotein characteristics (249 traits) measured using proton nuclear magnetic resonance spectroscopy across the allele frequency spectrum in ~450,000 individuals. Trans-ancestral meta-analyses identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank. We observe and classify extreme genetic pleiotropy, identify regulators of lipid metabolism, and assign effector genes at >100 loci through rare-to-common allelic series. We propose roles for genes less established in metabolic control (

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