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白细胞介素 17A 和白细胞介素 17F 的遗传多态性及其与中国汉族人群炎症性肠病的关系。

Genetic polymorphisms of interleukin 17A and interleukin 17F and their association with inflammatory bowel disease in a Chinese Han population.

机构信息

Department of Gastroenterology, The First Affiliated Hospital of Nanjing Medical University, China.

出版信息

Inflamm Res. 2013 Aug;62(8):743-50. doi: 10.1007/s00011-013-0629-9. Epub 2013 May 8.

Abstract

OBJECTIVE

Interleukin-17A and interleukin-17F (IL-17A and IL-17F) are candidate genes for chronic inflammatory disease. We investigated the association between IL17A/F gene polymorphisms and susceptibility to and clinical features of inflammatory bowel disease (IBD).

METHODS

A total of 270 ulcerative colitis (UC) patients, 82 Crohn's disease (CD) patients and 268 healthy controls were recruited in this study. Genomic DNA was extracted and analyzed for IL17A/F gene polymorphisms using ligase detection reaction allelic technology.

RESULTS

Compared to the controls, the mutant allele C for IL17F rs763780 was significantly more common in CD patients [14.0 vs 8.4 %, P = 0.033, odds ratio (OR) 1.18, 95 % confidence interval (CI) 1.41-3.04] and was associated with the disease lesion location. This variant of IL17F rs763780 also had a weak correlation with the age of UC onset (P = 0.05, OR 0.97, 95 % CI 0.94-1.00). The IL17A (rs2275913, G-197A) variant had a weak association with the severity of disease: patients with the mutant allele A tended to suffer mild active UC. The haplotype (GGTT) of IL17A formed with four single nucleotide polymorphisms (rs2275913, rs8193037, rs8193038, and rs3804513) was associated with an increased risk of UC (P = 0.034, OR 4.58, 95 % CI 1.54-13.64).

CONCLUSIONS

The IL17F (rs763780, 7488T/C) variant was associated with an increased risk for the development of CD, and affected some clinical features of UC and CD. The IL17A (rs2275913, G-197A) variant had a weak association with the severity of UC. There was a risk haplotype in IL17A which could increase the risk of UC.

摘要

目的

白细胞介素-17A 和白细胞介素-17F(IL-17A 和 IL-17F)是慢性炎症性疾病的候选基因。我们研究了 IL17A/F 基因多态性与炎症性肠病(IBD)易感性和临床特征的关系。

方法

本研究共纳入 270 例溃疡性结肠炎(UC)患者、82 例克罗恩病(CD)患者和 268 例健康对照者。提取基因组 DNA,采用连接酶检测反应等位基因技术分析 IL17A/F 基因多态性。

结果

与对照组相比,CD 患者中 IL17F rs763780 的突变等位基因 C [14.0%比 8.4%,P=0.033,比值比(OR)1.18,95%置信区间(CI)1.41-3.04]更为常见,且与疾病病变部位有关。IL17F rs763780 这一变体与 UC 发病年龄也有弱相关性(P=0.05,OR 0.97,95%CI 0.94-1.00)。IL17A(rs2275913,G-197A)变异与疾病严重程度有弱相关性:携带突变等位基因 A 的患者易患轻度活动期 UC。由四个单核苷酸多态性(rs2275913、rs8193037、rs8193038 和 rs3804513)组成的 IL17A 单体型(GGTT)与 UC 发病风险增加相关(P=0.034,OR 4.58,95%CI 1.54-13.64)。

结论

IL17F(rs763780,7488T/C)变异与 CD 的发病风险增加有关,并影响 UC 和 CD 的一些临床特征。IL17A(rs2275913,G-197A)变异与 UC 的严重程度有弱相关性。IL17A 中存在一个风险单体型,可能增加 UC 的发病风险。

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