IL-17基因多态性与中国汉族人群炎症性肠病的关系

目的:研究IL-17A和IL-17F的5个多态性位点与中国汉族人炎症性肠病之间的关系.方法:采用病例-对照研究方法,收集确诊的溃疡性结肠炎(ulcerative colitis,UC)和克罗恩病(Crohn’s disease,CD)患者共350例(UC270例;CD80例),健康对照组268例,收集外周血标本2mL,提取DNA,运用LDR(ligasedetection reaction allelic)技术进行多态性检测.采用SPSS17.0软件进行数据分析.结果:CD患者中IL-17F(rs763780,7488T/C)突变等位基因C的频率明显高于对照组(13.8%vs8.4%,P=0.044,OR=1.74,95%CI1.01-2.99).在亚型分析中,rs763780基因多态性与CD病变范围有关,突变等位基因C在CD回结肠型患者中的频率明显高于对照组(P=0.02).IL-17A(rs2275913,G-197A)与UC患者疾病的严重程度有弱相关性,含有突变基因A的患者倾向于临床轻型.IL-17F(rs763780,7488T/C)多态性与U C患者发病年龄之间有弱相关性,T/C基因型患者趋向于年轻型(P=0.046).结论:IL-17F rs763780基因多态性与CD易感性之间有弱相关性,在亚组分析中发现rs763780与CD的病变范围和UC的发病年龄有关.IL-17A rs2275913基因多态性与UC疾病严重程度呈负相关.

Association between interleukin-17 gene polymorphisms and inflammatory bowel disease in Chinese patients

AIM: To investigate the association of five single nucleotide polymorphisms in the interleukin 17 (IL-17) gene with the susceptibility to inflammatory bowel disease in Chinese population. METHODS: This is a case-control study. A total of 350 subjects, including 270 subjects with ulcerative colitis (UC) and 80 subjects with Crohn’ s disease (CD), were recruited. There were another 268 subjects as control group. Blood samples were collected to extract DNA to detect IL17A/F gene polymorphisms using ligase detection reaction allelic (LDR) technology. Genotype and allele associations were calculated using SPSS 17.0 software package. RESULTS: The frequency of IL-17F (rs763780,7488T/C) variant allele C was significantly higher in CD patients than in controls (13.8% vs 8.4%, P = 0.044, OR = 1.74, 95%CI 1.01-2.99). In the subgroup analysis, the rs763780 was correlated with the extent of CD lesions, and the frequency of variant allele C was significantly higher in ileocolon group than in non-UC group (P = 0.02). The IL-17A (rs2275913, G-197A) variant was found to have a weak association with disease severity; patients with mutant allele gene A tend to have mild lesion. There is a weak correlation between IL-17F (rs763780, 7488T/C) polymorphism and age (OR = 0.97, 95%CI 0.94-1.00), and patients with genotype T/C tend to be younger at onset (P = 0.046). CONCLUSION: There is a weak association between IL-17F polymorphisms and CD susceptibility. IL-17F rs763780 was associated with the extent of CD lesions and the onset age of UC. The IL-17A rs2275913 polymorphism was negatively correlated with disease severity in UC patients.