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Study Finds Variants Linked to Diverticular Disease, Presents Polygenic Score

Researchers have uncovered more than 150 genetic variants associated with risk of diverticular disease, which they then used to develop a polygenic risk score for the condition. Diverticular disease, which is marked by pouches that bulge out from the lining of the colon and can cause abdominal pain and bloating, becomes more common as people age. In a new study in Cell Genomics, a University of Queensland-led team conducted a genome-wide association study meta-analysis of 724,372 individuals from three studies, 78,399 of whom had diverticular disease and 645,973 of whom did not. Through this, the researchers identified 150 lead SNPs and by further folding in RNA sequencing data, their findings implicated colon myocytes, mesothelial and stromal cells, and enteric neurons and glia in mediating diverticular disease. Based on multiple lines of evidence, they prioritized 95 of the genes they identified, including SLC9A3 which encodes a sodium-proton exchanger that is the target of a drug for irritable bowel syndrome. The researchers additionally develop a polygenic risk score that could predict diverticular disease with nearly 69 percent accuracy. "These findings directly support that exploration of the genetic architecture of GI disorders is useful for understanding their causal mechanisms, which will further contribute to disease prevention, diagnoses, and treatment," the researchers write.