Genetic Association of DLG5 R30Q with Familial and Sporadic Inflammatory Bowel Disease in Men release_ap4zp5ahwrhbbeydoyhkmsschm

by Z. Lin, L. Poritz, A. Franke, T.Y. Li, A. Ruether, K.A. Byrnes, Y. Wang, A.W. Gebhard, C. MacNeill, N.J. Thomas, R. Wu, S. Schreiber (+1 others)


<jats:italic>Background</jats:italic>: The association of DLG5 R30Q with IBD has been replicated in several populations, but is not statistically significant in others. We studied the incidence of DLG5 alleles in a population of IBD patients from Pennsylvania.<jats:italic>Methods</jats:italic>: DLG5 R30Q (rs1248696) and G1066G (rs1248634) were analyzed with PCR-based RFLP methods in a total of 521 subjects, that included 105 individuals with IBD and 139 without IBD from a familial IBD registry, 107 with sporadic IBD, and 170 unrelated healthy controls. R30Q was further analyzed with SNPlex™ Genotyping System in 473 samples.<jats:italic>Results</jats:italic>: RFLP genotyping data showed that, DLG5 R30Q was significantly associated with IBD overall (<jats:italic>p</jats:italic>=0.006), and separately with CD (<jats:italic>p</jats:italic>=0.009) and UC (<jats:italic>p</jats:italic>=0.024). The association of R30Q with IBD was entirely due to a male-associated effect (male vs female<jats:italic>p</jats:italic>=0.015 vs 0.241 (IBD),<jats:italic>p</jats:italic>=0.024 vs 0.190 (CD), and<jats:italic>p</jats:italic>=0.019 vs 0.575 (UC)). The frequency of the A allele carriage was elevated in both affected and unaffected members in the familial IBD cohort compared to healthy controls (<jats:italic>p</jats:italic>=0.037). In the family pedigrees, we observed differences in the expression of IBD in individuals carrying the A allele between families.<jats:italic>Conclusions</jats:italic>: In the studied population, DLG5 R30Q was associated with all forms of IBD. An elevated presence of the R30Q variant was observed in all members of a familial IBD registry. This association of the R30Q variant with IBD was male-specific.
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Published in Disease Markers by Hindawi Limited
ISSN-L 0278-0240
Volume 27
Page(s) 193-201
Release Year 2009
Publisher Hindawi Limited
Primary Language en (lookup)

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Type  article-journal
Stage   published
Year   2009
DOI  10.1155/2009/167534
PubMed  20037206
PMC  PMC3835024
Wikidata  Q37328109
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ISSN-L:  0278-0240
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