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Title: Copy number variation of scavenger-receptor cysteine rich domains within DMBT1 and Crohn’s disease
Authors: Polley, S.
Prescott, N.
Nimmo, E.
Veal, C.
Vind, I.
Munkholm, P.
Fode, P.
Mansfield, J.
Andersen, P. S.
Satsangi, J.
Mathew, C. G.
Hollox, Edward
First Published: 27-Jan-2016
Publisher: Nature Publishing Group
Citation: European Journal of Human Genetics, 2016, Advance Online Publication
Abstract: Previous work has shown that the gene DMBT1, which encodes a large secreted epithelial glycoprotein known as salivary agglutinin, gp340, hensin or muclin, is an innate immune defence protein that binds bacteria. A deletion variant of DMBT1 has been previously associated with Crohn’s disease, and a DMBT1−/− knockout mouse has increased levels of colitis induced by dextran sulphate. DMBT1 has a complex copy number variable structure, with two, independent, rapidly mutating copy number variable regions, called CNV1 and CNV2. Because the copy number variable regions are predicted to affect the number of bacteria-binding domains, different alleles may alter host–microbe interactions in the gut. Our aim was to investigate the role of this complex variation in susceptibility to Crohn’s disease by assessing the previously reported association. We analysed the association of both copy number variable regions with presence of Crohn’s disease, and its severity, on three case–control cohorts. We also reanalysed array comparative genomic hybridisation data (aCGH) from a large case–control cohort study for both copy number variable regions. We found no association with a linear increase in copy number, nor when the CNV1 is regarded as presence or absence of a deletion allele. Taken together, we show that the DMBT1 CNV does not affect susceptibility to Crohn’s disease, at least in Northern Europeans.
DOI Link: 10.1038/ejhg.2015.280
ISSN: 1018-4813
eISSN: 1476-5438
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2016 Macmillan Publishers Limited All rights reserved. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
Appears in Collections:Published Articles, Dept. of Genetics

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