Expressive

rs12147342 - SERPINA12 - SERPINA4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Efficient candidate drug target discovery through proteogenomics in a Scottish cohort - Unknown journal (n.d.) · Unknown authors · PubMed 40883583

    ABSTRACT: Understanding the genomic basis of human proteomic variability provides powerful tools to probe potential causal relationships of proteins and disease risk, and thus to prioritise candidate drug targets. Here, we investigated 6432 plasma proteins (1533 previously unstudied in large-scale proteomic GWAS) using the SomaLogic (v4.1) aptamer-based technology in a Scottish population from the Viking Genes study. A total of 505 significant independent protein quantitative trait loci (pQTL) were found for 455 proteins in blood plasma: 382 cis- (P < 5×10-8) and 123 trans- (P < 6.6×10-12). Of these, 31 cis-pQTL were for proteins with no previous GWAS. We leveraged these pQTL to perform causal inference using bidirectional Mendelian randomisation and colocalisation against comple

  • Genomic atlas of the human plasma proteome - Unknown journal (n.d.) · Unknown authors · PubMed 29875488

    ABSTRACT: Although plasma proteins have important roles in biological processes and are the direct targets of many drugs, the genetic factors that control inter-individual variation in plasma protein levels are not well understood. Here we characterize the genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study. We identify 1,927 genetic associations with 1,478 proteins, a fourfold increase on existing knowledge, including trans associations for 1,104 proteins. To understand the consequences of perturbations in plasma protein levels, we apply an integrated approach that links genetic variation with biological pathway, disease, and drug databases. We show that protein quantitative trait loci overlap with gene expression quantitative trait loci, as w

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