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首页> 外文期刊>World Journal of Gastroenterology >Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese.
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Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese.

机译：日本人CTLA4多态性等位基因与炎症性肠病的关联。

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摘要

AIM: To examine an association between the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene that plays a role in downregulation of T-cell activation and inflammatory bowel disease consisting of ulcerative colitis (UC) and Crohn's disease (CD) in the Japanese. METHODS: We studied 108 patients with UC, 79 patients with CD, and 200 sex-matched healthy controls, with respect to three single nucleotide polymorphisms (SNPs) in CTLA4, such as C-318T in the promoter region, A+49G in exon 1 and G+6230A in the 3' untranslated region (3'-UTR) by a PCR-restriction fragment length polymorphism method, and to an (AT)(n) repeat polymorphism in 3'-UTR by fragment analysis with fluorescence-labeling on denaturing sequence gels. Frequency of alleles and genotypes and their distribution were compared statistically between patients and controls and among subgroups of patients, using chi (2) and Fisher exact tests. RESULTS: The frequency of A/A patients than in controls (3.7% vs 11.0%, P = 0.047, odds ratio (OR) = 0.311). Moreover, the frequency of "G/G" genotype at the A+49G SNP site was significantly higher in CD patients with fistula (48.6%) than those without it (26.2%) (P = 0.0388, OR=2.67). CONCLUSION: The results suggest that CTLA4 located at 2q33 is a determinant of UC and responsible for fistula formation in CD in the Japanese.
机译：目的：研究在日本人中，在下调T细胞活化和炎症性肠病（包括溃疡性结肠炎（UC）和克罗恩病（CD））中起作用的细胞毒性T淋巴细胞抗原4（CTLA4）基因之间的关联。方法：我们研究了108例UC患者，79例CD患者和200个性别匹配的健康对照者，研究CTLA4中的三个单核苷酸多态性（SNP），例如启动子区域的C-318T，外显子的A + 49G。通过PCR限制性片段长度多态性方法检测3'非翻译区（3'-UTR）中的1和G + 6230A，并通过荧光标记进行片段分析，确定3'-UTR中的（AT）（n）重复多态性在变性序列凝胶上。使用chi（2）和Fisher精确检验，比较了患者和对照组之间以及患者亚组之间的等位基因和基因型频率及其分布。结果：A / A患者的发生率高于对照组（3.7％vs 11.0％，P = 0.047，优势比（OR）= 0.311）。此外，患有瘘管的CD患者（48.6％）比没有瘘管的CD患者在A + 49G SNP位点的“ G / G”基因型频率显着更高（P = 0.0388，OR = 2.67）。结论：结果表明，CTLA4位于2q33是UC的决定因素，并且是日本人CD中瘘管形成的原因。

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