目的:探讨杀菌/通透性增加蛋白(BPI)基因Glu216Lys多态性与中国汉族人群炎症性肠病(IBD)发病及各种临床特征的相关性.方法:纳入286例确诊的汉族IBD患者[173例克罗恩病(CD)和113例溃疡性结肠炎(UC)]及年龄、性别匹配的332名健康人进行病例对照研究.采用引物介导的限制性分析PCR方法检测基因分型；应用单因素分析和Logistic回归模型分析该位点多态性对IBD发病及临床特征的影响.结果:CD和UC病例组与正常对照组间Glu216Lys基因型和等位基因频率差异均无统计学意义(均P＞0.05)；进一步分析Glu216Lys与CD和UC的临床特征关系,差异均无统计学意义(P＞0.05).结论:BPI基因Glu216 Lys多态性与中国汉族人群IBD发病和临床特征无明显相关.IBD的遗传易感性具有种族差异性.%AIM: To investigate the association between Glu216Lys polymorphism of bactericidal/permeability-increasing protein (BPI) gene and inflammatory bowel disease (IBD) in Chinese Han population and to elucidate the potential intERαctions between genotypes and clinical features. METHODS: The single nucleotide polymorphism (SNP) of Glu216Lys was genotyped in 286 IBD patients, including 173 Crohn disease (CD) and 113 ulcERαtive colitis (UC) cases, and 332 age- and sex-matched healthy controls by primer-introduced restriction analysis PCR (PIRA-PCR). Univariate a-nalysis and Logistic regression model were used to evaluate the influences of Glu216Lys polymorphism on IBD clinical features. RESULTS: No significant difference in the frequency of the genotypes and alleles between cases and controls (CD group vs control group, P >0.05; UC group vs control group, P >0. 05) was observed. Glu216Lys polymorphism had no relationship with the clinical types of UC and CD (P > 0. 05). CONCLUSION: The SNP of Glu216Lys in BPI is not associated with IBD in Chinese Han population. The contribution of genetic determinants is significantly different among ethnicities.
展开▼
