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Updated: May 12, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Collagen (rs3134646) and ARHGAP15 (rs4662344) genetic variants may predispose to colonic diverticulosis
Piotr Nehring1, Grzegorz Placha2, Adam Przybyłkowski1
1Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
Purpose:
Colonic diverticulosis is a common condition in older adults in the entire world. Besides environmental factors, there are emerging data on underlying genetic predisposition to diverticula formation. The study aimed to identify genetic factors associated with colonic diverticulosis.
Patients And Methods:
The study involved 323 patients, 134 with colonic diverticulosis, and 189 healthy controls. In all study participants the following genetic variants were assessed using RT-PCR: rs1800587 in IL1, rs16944, and rs2853550 in IL1B, rs3134646, and rs6434304 in COL3A1, rs3771810, and rs3771863 in TACR1, rs4644560 in NK2R, rs4662344 in ARHGAP15, rs67153654 in FAM155A, and rs7848647 in TNFSF15.
Results:
Both, the allele C of the COL3A1 (rs3134646) variant and allele T of the ARHGAP15 (rs4662344) variant, were shown to be associated with diverticulosis, compared to healthy controls in co-dominant and recessive models. Both of them were more frequently reported in patients with colonic diverticulosis, compared to healthy controls. There were no allelic or genetic associations in patients with diverticulosis or diverticulitis compared to healthy controls, for the following genetic variants: IL1A (rs1800587), IL1B (rs16944, rs2853550), COL3A1 (rs6434304), TACR1 (rs3771810, rs3771863), NK2R (rs4644560), FAM155A (rs67153654) and TNFSF15 (rs7848647).
Conclusions:
The allele C of COL3A1 (rs3134646) and allele T of the ARHGAP15 (rs4662344) may predispose to colonic diverticulosis. When viewed in the context of previous studies, these findings suggest that the development of colonic diverticula may be influenced by the involvement and degradation of the extracellular matrix.
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