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马来西亚克罗恩病患者中炎症性肠病基因 5(IBD5)和白细胞介素-23 受体(IL23R)遗传多态性的相关性。

Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease.

机构信息

Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

出版信息

J Dig Dis. 2012 Sep;13(9):459-65. doi: 10.1111/j.1751-2980.2012.00617.x.

DOI:10.1111/j.1751-2980.2012.00617.x
PMID:22908971
Abstract

OBJECTIVE

This study was aimed to investigate the possible association of Crohn's disease (CD) with inflammatory bowel disease gene 5 (IBD5) IGR2198a_1 (rs11739135), IGR2096a_1 (rs12521868) and interleukin-23 receptor (IL23R) genetic variant (rs1004819) in the Malaysian population.

METHODS

Blood samples from 80 CD patients and 100 healthy controls were recruited. Genomic DNA was extracted and analyzed by polymerase chain reaction-restriction fragment length polymorphism.

RESULTS

The results revealed that there was an increased frequency of IGR2198a_1 C allele (8.8% in CD, 1.5% in controls, P < 0.05, OR 6.30, 95% CI 1.77-22.31) and IGR2096a_1 T allele (6.9% in CD, 1.5% in controls, P < 0.05, OR 4.85, 95% CI 1.33-17.69) in the CD patients as compared to the controls, suggesting the two variants were potential risk factors of CD. Both risk alleles (C and T) were highest in Indians. In contrast, no significant difference was observed for the IL23R gene variant (rs1004819) between these two groups (P = 0.941). All genotypes and alleles of this gene variant were present in equal ratios in the CD and control groups (OR 1.02, 95% CI 0.66-1.57 for T allele and OR 0.98, 95% CI 0.64-1.52 for C allele).

CONCLUSIONS

There is a strong association between both IBD5 locus variants but not the IL23R gene variant with CD in the Malaysian population. The IBD5 locus variants were highest in Indians, which may explain the increased susceptibility of this particular ethnic group to the disease.

摘要

目的

本研究旨在探讨炎症性肠病基因 5(IBD5)IGR2198a_1(rs11739135)、IGR2096a_1(rs12521868)和白细胞介素-23 受体(IL23R)基因变异(rs1004819)与马来西亚人群中克罗恩病(CD)之间的可能关联。

方法

招募了 80 名 CD 患者和 100 名健康对照者的血液样本。提取基因组 DNA 并通过聚合酶链反应-限制性片段长度多态性进行分析。

结果

结果显示,CD 患者的 IGR2198a_1 C 等位基因(8.8%,对照组 1.5%,P < 0.05,OR 6.30,95%CI 1.77-22.31)和 IGR2096a_1 T 等位基因(6.9%,对照组 1.5%,P < 0.05,OR 4.85,95%CI 1.33-17.69)的频率升高,表明这两个变体是 CD 的潜在危险因素。这两个风险等位基因(C 和 T)在印度人中最高。相比之下,两组之间的 IL23R 基因变体(rs1004819)没有观察到显著差异(P = 0.941)。该基因变体的所有基因型和等位基因在 CD 和对照组中以相等的比例存在(T 等位基因的 OR 为 1.02,95%CI 为 0.66-1.57,C 等位基因的 OR 为 0.98,95%CI 为 0.64-1.52)。

结论

在马来西亚人群中,IBD5 基因座的两个变体与 CD 之间存在很强的关联,但 IL23R 基因变体则没有。IBD5 基因座变体在印度人中最高,这可能解释了该特定族群对该疾病的易感性增加。

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