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  CEACAM6 Gene Variants in Inflammatory Bowel Disease

Glas, J., Seiderer, J., Fries, C., Tillack, C., Pfennig, S., Weidinger, M., et al. (2011). CEACAM6 Gene Variants in Inflammatory Bowel Disease. PLoS ONE, 6(4): e19319.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-8EC0-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-8EC1-F
Genre: Journal Article

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 Creators:
Glas, J., Author
Seiderer, J., Author
Fries, C., Author
Tillack, C., Author
Pfennig, S., Author
Weidinger, M., Author
Beigel, F., Author
Olszak, T., Author
Lass, U., Author
Göke, B., Author
Ochsenkühn, T., Author
Wolf, C.1, Author              
Lohse, P., Author
Müller-Myhsok, B.1, Author              
Diegelmann, J., Author
Czamara, D.1, Author              
Brand, S., Author
Affiliations:
1AG Müller-Myhsok, Bertram, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society, escidoc:1607154              

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 Abstract: Background: The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) acts as a receptor for adherent-invasive E. coli (AIEC) and its ileal expression is increased in patients with Crohn's disease (CD). Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD). Methodology: In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC), and 1,350 healthy, unrelated controls) was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839). In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. Conclusions: This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

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Language(s): eng - English
 Dates: 2011-04-29
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 563308
ISI: 000290024700131
 Degree: -

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Title: PLoS ONE
Source Genre: Journal
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Pages: - Volume / Issue: 6 (4) Sequence Number: e19319 Start / End Page: - Identifier: ISSN: 1932-6203