Expressive

rs11934833 - LINC02272

Magnitude 2.2 · 2 studies on file

Reported associations

  • 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 37492107

    ABSTRACT: Summary We conducted a genome-wide association study (GWAS) analysis of diverticular disease (DivD) of intestine within 724,372 individuals and identified 150 independent genome-wide significant DNA variants. Integration of the GWAS results with human gut single-cell RNA sequencing data implicated gut myocyte, mesothelial and stromal cells, and enteric neurons and glia in DivD development. Ninety-five genes were prioritized based on multiple lines of evidence, including SLC9A3, a drug target gene of tenapanor used for the treatment of the constipation subtype of irritable bowel syndrome. A DivD polygenic score (PGS) enables effective risk prediction (area under the curve [AUC], 0.688; 95% confidence interval [CI], 0.645-0.732) and the top 20% PGS was associated with ∼3.6-fold

  • Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease - Unknown journal (n.d.) · Unknown authors · PubMed 30177863

    ABSTRACT: Diverticular disease is common and morbid. Treatments are limited due to poor understanding of its pathophysiology. To elucidate its etiology, we performed a genome-wide association study of diverticular disease (27,444 cases; 382,284 controls) in the UK Biobank and tested for replication in the Michigan Genomics Initiative (2,572 cases; 28,649 controls). We identified 42 loci associated with diverticular disease, 39 of them novel. Using DEPICT, we show that genes in these associated regions are significantly enriched for expression in mesenchymal stem cells and multiple connective tissue cell types and are co-expressed with genes that play a role in vascular and mesenchymal biology. Genes in these associated loci play roles in immunity, extracellular matrix biology, cell adhesio

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