杀菌/通透性增加蛋白基因Glu216Lys多态性与中国汉族人群炎症性肠病无关

 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 Glu216Lys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。

Glu216Lys polymorphism of bactericidal/permeability-increasing protein gene has no association with inflammatory bowel disease in Chinese Han population

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 interactions 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 ulcerative colitis (UC) cases, and 332 age- and sex-matched healthy controls by primer-introduced restriction analysis PCR (PIRA-PCR). Univariate analysis 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．