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突尼斯人群中细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因启动子外显子1多态性(49 A/G)与炎症性肠病的关联。

Association between CTLA-4 gene promoter (49 A/G) in exon 1 polymorphisms and inflammatory bowel disease in the Tunisian population.

作者信息

Ben Alaya Walid, Sfar Imen, Aouadi Houda, Jendoubi Saloua, Najjar Tawfik, Filali Azza, Gorgi Yousr, Ben Abdallah Taieb, Mouelhi Leila, Matri Samira, Ayed Khaled

机构信息

Charles Nicolle Hospital, Tunis-1006, Tunis, Tunisia.

出版信息

Saudi J Gastroenterol. 2009 Jan;15(1):29-34. doi: 10.4103/1319-3767.43285.

DOI:10.4103/1319-3767.43285
PMID:19568552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2702943/
Abstract

BACKGROUND/AIM: To investigate the possible association between the polymorphism of the CTLA-4 exon 1 +49 A/G and susceptibility to Crohn's disease (CD) and ulcerative colitis (UC) in the Tunisian population.

METHODS

The +49 A/G dimorphism was analyzed in 119 patients with CD, 65 patients with UC, and 100 controls by the polymerase chain reaction-restriction fragment length polymorphism method.

RESULTS

Significantly higher frequencies of the CTLA-4 +49A allele and A/A homozygous individuals were observed in patients with CD when compared with controls (pc = 0.0023 and pc = 0.0003, respectively). Analysis of CTLA-4 A/G polymorphism with respect to sex in CD showed a significant difference in A/A genotypes between female patients and controls (pc = 0.0001 and pc = 0.038, respectively). There were no differences in the subgroups of patients with CD.

CONCLUSIONS

Forty-nine A alleles and AA genotype are associated with CD susceptibility in Tunisians. Other genes involved in the T-cell regulation remain strong candidates for IBD susceptibility and require further investigation.

摘要

背景/目的:探讨突尼斯人群中细胞毒性T淋巴细胞相关抗原4(CTLA-4)外显子1 +49A/G多态性与克罗恩病(CD)及溃疡性结肠炎(UC)易感性之间的可能关联。

方法

采用聚合酶链反应-限制性片段长度多态性方法,对119例CD患者、65例UC患者及100例对照者进行+49A/G二态性分析。

结果

与对照组相比,CD患者中CTLA-4 +49A等位基因及A/A纯合个体的频率显著更高(分别为pc = 0.0023和pc = 0.0003)。对CD患者按性别分析CTLA-4 A/G多态性,结果显示女性患者与对照组之间A/A基因型存在显著差异(分别为pc = 0.0001和pc = 0.038)。CD患者各亚组之间无差异。

结论

在突尼斯人中,49A等位基因和AA基因型与CD易感性相关。其他参与T细胞调节的基因仍是炎性肠病易感性的有力候选基因,需要进一步研究。

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Inflammatory bowel disease: epidemiology, pathogenesis, and therapeutic opportunities.炎症性肠病:流行病学、发病机制及治疗机遇
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World J Gastroenterol. 2005 Jul 21;11(27):4188-93. doi: 10.3748/wjg.v11.i27.4188.
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