rs11052722 - SYT10 - RNU6-400P

Magnitude 2.2 · 1 study 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

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