Universität zu Köln

Reichert, Matthias Christian, Kupcinskas, Juozas, Krawczyk, Marcin ORCID: 0000-0002-0113-0777, Juengst, Christoph, Casper, Markus, Gruenhage, Frank, Appenrodt, Beate, Zimmer, Vincent ORCID: 0000-0002-6298-4717, Weber, Susanne Nicole, Tamelis, Algimantas, Lukosiene, Jaune Ieva, Pauziene, Neringa, Kiudelis, Gediminas, Jonaitis, Laimas, Schramm, Christoph, Goeser, Tobias, Schulz, Antje, Malinowski, Maciej, Glanemann, Matthias, Kupcinskas, Limas and Lammert, Frank (2018). A Variant of COL3A1 (rs3134646) Is Associated With Risk of Developing Diverticulosis in White Men. Dis. Colon Rectum, 61 (5). S. 604 - 612. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1530-0358

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Abstract

BACKGROUND: Colonic diverticulosis is one of the most common gastroenterological disorders. Although diverticulosis is typically benign, many individuals develop diverticulitis or other aspects of diverticular disease. Diverticulosis is thought to stem from a complex interaction of environmental, dietary, and genetic factors; however, the contributing genetic factors remain unknown. OBJECTIVE: The aim of our present study was to determine the role of genetic variants within genes encoding for collagens of the connective tissue in diverticulosis. DESIGN: This was a transsectional genetic association study. SETTINGS: This study was conducted at three tertiary referral centers in Germany and Lithuania. PATIENTS: Single-nucleotide polymorphisms in COL3A1 (rs3134646, rs1800255) and COL1A1 (rs1800012) were genotyped in 422 patients with diverticulosis and 285 controls of white descent by using TaqMan assays. MAIN OUTCOME MEASURES: The association of colonoscopy-proven diverticulosis with genetic polymorphisms with herniations was assessed in multivariate models. RESULTS: The rs3134646, rs1800255, and rs1800012 variants were significantly associated with the risk of developing diverticulosis in the univariate model; however, these associations were not significant in the multivariate logistic regression analysis including additional nongenetic variables. When selectively analyzing sexes, the genotype AA (AA) in rs3134646 remained significantly associated with diverticulosis in men (OR, 1.82; 95% CI, 1.04-3.20; p = 0.04). LIMITATIONS: Because a candidate approach was used, additional relevant variants could be missed. Within our cohort of patients with diverticulosis, only a small proportion had diverticular disease and thus, we could not examine the variants in these subgroups. Functional studies, including the analysis of the involved collagens, are also warranted. CONCLUSIONS: Our study shows that a variant of COL3A1 (rs3134646) is associated with the risk of developing colonic diverticulosis in white men, whereas rs1800255 (COL3A1) and rs1800012 (COL1A1) were not associated with this condition after adjusting for confounding factors. Our data provide novel valuable insights in the genetic susceptibility to diverticulosis. See Video Abstract at http://links.lww.com/DCR/A504.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reichert, Matthias Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Kupcinskas, Juozas UNSPECIFIED UNSPECIFIED UNSPECIFIED Krawczyk, Marcin UNSPECIFIED orcid.org/0000-0002-0113-0777 UNSPECIFIED Juengst, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Casper, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Gruenhage, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Appenrodt, Beate UNSPECIFIED UNSPECIFIED UNSPECIFIED Zimmer, Vincent UNSPECIFIED orcid.org/0000-0002-6298-4717 UNSPECIFIED Weber, Susanne Nicole UNSPECIFIED UNSPECIFIED UNSPECIFIED Tamelis, Algimantas UNSPECIFIED UNSPECIFIED UNSPECIFIED Lukosiene, Jaune Ieva UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauziene, Neringa UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiudelis, Gediminas UNSPECIFIED UNSPECIFIED UNSPECIFIED Jonaitis, Laimas UNSPECIFIED UNSPECIFIED UNSPECIFIED Schramm, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Goeser, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Schulz, Antje UNSPECIFIED UNSPECIFIED UNSPECIFIED Malinowski, Maciej UNSPECIFIED UNSPECIFIED UNSPECIFIED Glanemann, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Kupcinskas, Limas UNSPECIFIED UNSPECIFIED UNSPECIFIED Lammert, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-187375
DOI:	10.1097/DCR.0000000000001001
Journal or Publication Title:	Dis. Colon Rectum
Volume:	61
Number:	5
Page Range:	S. 604 - 612
Date:	2018
Publisher:	LIPPINCOTT WILLIAMS & WILKINS
Place of Publication:	PHILADELPHIA
ISSN:	1530-0358
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PELVIC ORGAN PROLAPSE; ALPHA-1 POLYMORPHISM; III ALPHA-1; FIBER DIET; DISEASE; COLON; GENE; CONSTIPATION; POPULATION; HERNIA Multiple languages Gastroenterology & Hepatology; Surgery Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18737