Expressive

rs11715134 - CACNA2D2 - C3orf18

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetics of 35 blood and urine biomarkers in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 33462484

    ABSTRACT: Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n=363,228 individuals). We identify 1,857 loci associated with at least one trait, containing 3,374 fine-mapped associations, and additional sets of large-effect (> 0.1 sd) protein-altering, HLA, and copy-number variant associations. Through Mendelian Randomization analysis, we discover 51 causal relationships, including previously known agonistic effects of urate on gout and cystatin C on stroke. Finally, we develop polygenic risk scores for each biomarker and built 'multi-PRS' models for diseases using 35 PRSs simultaneously, which improved chronic kidney disease, type 2 diabetes, gout, and alcoholic cirr

  • Mapping genomic loci implicates genes and synaptic biology in schizophrenia - Unknown journal (n.d.) · Unknown authors · PubMed 35396580

    ABSTRACT: SUMMARY Schizophrenia has a heritability of 60-80%, much of which is attributable to common risk alleles. Here, in a 2-stage genome-wide association study of up to 76,755 people with schizophrenia and 243,649 controls, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes expressed in CNS neurons, excitatory and inhibitory, but not other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) as likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or UTR variation. We also implicate fundamental processes related to neuronal function, including synaptic organisation, differentiation, and transmission. Fine-mapped

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