Universität zu Köln

Reichert, Matthias C., Kupcinskas, Juozas, Schulz, Antje, Schramm, Christoph, Weber, Susanne N., Krawczyk, Marcin ORCID: 0000-0002-0113-0777, Juengst, Christoph, Casper, Markus, Gruenhage, Frank, Appenrodt, Beate, Zimmer, Vincent, Tamelis, Algimantas, Lukosiene, Jaune I., Pauziene, Neringa, Kiudelis, Gediminas, Jonaitis, Laimas, Goeser, Tobias, Malinowski, Maciej, Glanemann, Matthias, Kupcinskas, Limas and Lammert, Frank (2020). Common variation in FAM155A is associated with diverticulitis but not diverticulosis. Sci Rep, 10 (1). LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reichert, Matthias C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kupcinskas, Juozas UNSPECIFIED UNSPECIFIED UNSPECIFIED Schulz, Antje UNSPECIFIED UNSPECIFIED UNSPECIFIED Schramm, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Susanne N. 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 UNSPECIFIED UNSPECIFIED Tamelis, Algimantas UNSPECIFIED UNSPECIFIED UNSPECIFIED Lukosiene, Jaune I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauziene, Neringa UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiudelis, Gediminas UNSPECIFIED UNSPECIFIED UNSPECIFIED Jonaitis, Laimas UNSPECIFIED UNSPECIFIED UNSPECIFIED Goeser, Tobias 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:38-345544
DOI:	10.1038/s41598-020-58437-1
Journal or Publication Title:	Sci Rep
Volume:	10
Number:	1
Date:	2020
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DISEASE; RISK; MANAGEMENT; SMOKING Multiple languages Multidisciplinary Sciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/34554