Expressive

rs118070675 - CACNA1H

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria. - The Journal of allergy and clinical immunology (2024) · McSweeney SM, Saklatvala J, Rispoli R, Ganier C, Woszczek G, Thomas L, Hveem K, Løset M, Dand N, Tziotzios C, Simpson M, McGrath JA · PubMed 37690594

    Urticaria is characterized by inappropriate mast cell degranulation leading to the development of wheals and/or angioedema. Twin and family studies indicate that there is a substantial heritable component to urticaria risk. Our aim was to identify genomic loci at which common genetic variation influences urticaria susceptibility. Genome-wide association studies of urticaria (including all subtypes) from 3 European cohorts (UK Biobank, FinnGen, and the Trøndelag Health Study [HUNT]) were combined through statistical meta-analysis (14,306 urticaria cases and 650,664 controls). Cases were identified via electronic health care records from primary and/or secondary care. To identify putative causal variants and genes, statistical fine-mapping, colocalization, and interrogation of publicly avai

  • 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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