Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3
Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3
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DOI：
10.1093/hmg/8.2.307
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发表时间：
1999-02-01
影响因子：
3.5
通讯作者：
Nakamura, Y
中科院分区：
文献类型：
--
作者：
Kyo, K;Parkes, M;Nakamura, Y
溃疡性结肠炎（UC）是一种常见的炎症性肠病，是一种具有显著遗传影响的多因素疾病。最近，证据的连锁染色体7 q附近的肠粘蛋白基因MUC 3的报道，受影响的同胞对分析。以往的报道表明UC患者可能存在粘蛋白异常，但特定粘蛋白基因的遗传差异是否与UC相关尚不清楚。在这里，我们分析了可变数目的串联重复序列（VNTR）在这个基因内使用的DNA从243日本（75例UC患者和168对照），并确认结果，我们进行了两个阶段的检查，使用328名白人样本（72和85与UC在第一和第二阶段，分别和171对照）。当携带一个或两个罕见的VNTR等位基因的患者的频率与对照组相比，一个显着增加，首先发现在日本患者（比值比2.72，95%CI 1.17-6.32，P = 0.0308）。在白人中，第一阶段的比值比为2.80（95%CI 1.36-5.75，P = 0.0079），第二阶段为2.43（95%CI 1.20-4.92，P = 0.0196），总比值比为2.60（95%CI 1.41-4.80，P = 0.0024）。总体比值比为2.64（95%CI 1.60-4.33，P = 0.0001），该结果表明MUGS基因的罕见等位基因可能赋予UC的遗传易感性。
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 MUGS gene may confer genetic predisposition to UC.