Abstract
Colonic diverticulosis is a very common condition. Many patients develop diverticulitis or other complications of diverticular disease. Recent genome-wide association studies (GWAS) consistently identified three major genetic susceptibility factors for both conditions, but did not discriminate diverticulititis and diverticulosis in particular due the limitations of registry-based approaches. Here, we aimed to confirm the role of the identified variants for diverticulosis and diverticulitis, respectively, within a well-phenotyped cohort of patients who underwent colonoscopy. Risk variants rs4662344 in Rho GTPase-activating protein 15 (ARHGAP15), rs7609897 in collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) and rs67153654 in family with sequence similarity 155 A (FAM155A) were genotyped in 1,332 patients. Diverticulosis was assessed by colonoscopy, and diverticulitis by imaging, clinical symptoms and inflammatory markers. Risk of diverticulosis and diverticulitis was analyzed in regression models adjusted for cofactors. Overall, the variant in FAM155A was associated with diverticulitis, but not diverticulosis, when controlling for age, BMI, alcohol consumption, and smoking status (ORadjusted 0.49 [95% CI 0.27–0.89], p = 0.002). Our results contribute to the assessment specific genetic variants identified in GWAS in the predisposition to the development of diverticulitis in patients with diverticulosis.
Highlights
Colonic diverticulosis is a very common condition
Colonic diverticulosis is a widespread gastrointestinal condition described as formation of diverticula, which are sac-like protrusions of mucosa and submucosa through muscularis externa[1,2]
In the combined analysis of these sample sets, three genetic loci that show genome wide-significance and may be associated with the risk of diverticular disease (DD) and/or diverticulitis were identified: intronic variants at the ARHGAP15 (Rho GTPase-activating protein 15), COLQ and family with sequence similarity 155 A (FAM155A) loci were significantly associated with DD
Summary
Colonic diverticulosis is a very common condition. Many patients develop diverticulitis or other complications of diverticular disease. Recent genome-wide association studies (GWAS) consistently identified three major genetic susceptibility factors for both conditions, but did not discriminate diverticulititis and diverticulosis in particular due the limitations of registry-based approaches. Our results contribute to the assessment specific genetic variants identified in GWAS in the predisposition to the development of diverticulitis in patients with diverticulosis. An Icelandic study group published a genome-wide association study (GWAS) searching for sequence variants that affect the www.nature.com/scientificreports risk of developing DD in the Icelandic population, containing a replication cohort of Danish individuals with DD10. In the combined analysis of these sample sets, three genetic loci that show genome wide-significance and may be associated with the risk of DD and/or diverticulitis were identified: intronic variants at the ARHGAP15 (Rho GTPase-activating protein 15), COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) and FAM155A (family with sequence similarity 155 A) loci were significantly associated with DD. Due to the similar genetic background of Germans and Lithuanians[15], a combined analysis was performed
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