Expressive

rs12290253 - MMP10, WTAPP1, WTAPP1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 33067605

    ABSTRACT: Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knock-down experiments (ABCA1, TRIB1) and clinical trial results (CCR2, CCR5), with consistent regulation. Finally we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This id

  • Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations - Unknown journal (n.d.) · Unknown authors · PubMed 36168886

    ABSTRACT: Abstract Polygenic scores (PGS) can identify individuals at risk of adverse health events and guide genetics-based personalized medicine. However, it is not clear how well PGS translate between different populations, limiting their application to well-studied ethnicities. Proteins are intermediate traits linking genetic predisposition and environmental factors to disease, with numerous blood circulating protein levels representing functional readouts of disease-related processes. We hypothesized that studying the genetic architecture of a comprehensive set of blood-circulating proteins between a European and an Arab population could shed fresh light on the translatability of PGS to understudied populations. We therefore conducted a genome-wide association study with whole-genome

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