Association of Ulcerative Colitis with Rare VNTR Alleles of the Human Intestinal Mucin Gene, MUC3

Ulcerative colitis (UC), a common form of inflammatory bowel disease, is a multifactorial disorder with significant genetic influence. Recently, evidence of linkage on chromosome 7q near the intestinal mucin gene MUC3 was reported by an affected sib-pair analysis. Previous reports indicate a possibl...

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Bibliographic Details
Published in:Human molecular genetics 1999-02, Vol.8 (2), p.307-311
Main Authors: Kyo, Kennoki, Parkes, Miles, Takei, Yoshiki, Nishimori, Hiroyuki, Vyas, Paulomi, Satsangi, Jack, Simmons, Jon, Nagawa, Hirokazu, Baba, Shozo, Jewell, Derek, Muto, Tetsuichiro, Mark Lathrop, G., Nakamura, Yusuke
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Colitis, Ulcerative - genetics
DNA - analysis
DNA - genetics
Gastroenterology. Liver. Pancreas. Abdomen
Gene Frequency
Humans
Intestinal Mucosa - metabolism
Medical sciences
Minisatellite Repeats - genetics
Mucin-3
Mucins - genetics
Odds Ratio
Other diseases. Semiology
Polymorphism, Genetic
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
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Summary:Ulcerative colitis (UC), a common form of inflammatory bowel disease, is a multifactorial disorder with significant genetic influence. Recently, evidence of linkage on chromosome 7q near the intestinal mucin gene MUC3 was reported by an affected sib-pair analysis. Previous reports indicate a possible mucin abnormality in UC patients, but whether genetic differences in a specific mucin gene are associated with UC is unknown. Here we analysed polymorphisms of variable number of tandem repeats (VNTRs) within this gene using DNAs obtained from 243 Japanese (75 patients with UC and 168 controls), and to confirm the result we undertook a two-stage examination using 328 Caucasian samples (72 and 85 with UC in the first and second stages, respectively, and 171 controls). When the frequency of patients carrying one or two rare VNTR alleles was compared with that of controls, a significant increase was found first in Japanese patients (odds ratio 2.72, 95% CI 1.17–6.32, P = 0.0308). In Caucasians, the odds ratio was 2.80 (95% CI 1.36–5.75, P = 0.0079) in the first stage, 2.43 (95% CI 1.20–4.92, P = 0.0196) in the second stage and 2.60 (95% CI 1.41–4.80, P = 0.0024) in total. The overall odds ratio was 2.64 (95% CI 1.60–4.33, P = 0.0001). This result suggests that rare alleles of the MUC3 gene may confer genetic predisposition to UC.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/8.2.307