10q21基因rs10761659多态性与广西壮族人群炎症性肠病的相关性

Association of 10q21 gene rs10761659 polymorphism with susceptibility to inflammatory bowel disease in a Guangxi Zhuang population

目的:研究10q21基因rs10761659多态性与广西壮族人群炎症性肠病(inflammatory bowel disease,IBD)易感性的相关性.方法:采用病例对照研究,分别收集2009-08/2012-10广西区域无血缘关系的壮族73例和汉族67例IBD患者及广西区域无血缘关系的壮族70例和汉族78例健康对照者的肠黏膜组织.使用酚-氯仿法提取基因组DNA,PCR扩增目的片段,RFLP筛查rs10761659突变点,基因测序法再进一步证实突变位点,最后统计该多态性位点的基因型频率及等位基因频率,分析其分布与广西壮族人群IBD的相关性.结果:广西壮族及汉族IBD患者与正常对照者均发现了10q21基因rs10761659突变型纯合子、突变型杂合子及野生型纯合子,但其基因型频率及等位基因频率分布在克罗恩病(Chron's disease)患者、溃疡性结肠炎(ulcerative colitis)患者及正常对照者中差异均无统计学意义(P>0.05);壮族与汉族病例组比较,其基因型频率分布也无统计学差异(P>0.05).结论:10q21基因rs10761659多态性与中国广西壮族人群炎症性肠病无明显相关性.

AIM： To analyze the association of 10q21 gene rs10761659 polymorphism with susceptibility to inflammatory bowel disease （IBD） in a Zhuang population from Guangxi, China. METHODS： A case-control study was conducted from August 2009 to October 2012, which included intestinal tissue samples of 73 Zhuang and 67 Han unrelated IBD patients and 70 Zhuang and 78 Han unrelated healthy volunteers in Guangxi. Genomic DNA was extracted from intestinal tissue using the phenol-chloroform method. The rs10761659 locus of the 10q21 gene was amplified by polymerase chain reaction （PCR）, genotyped by restriction fragment length polymorphism （RFLP） and verified by gene sequencing. RESULTS： The homozygous mutant, heterozygous mutant and wild-type genotypes of the rs10761659 locus were found in both IBD patients and healthy controls, but the distribution of genotypes and allele frequencies was not significantly different among Crohn＇s disease, ulcerative colitis and control groups （P 〉 0.05）. No significant difference was detected in the 10q21 gene rs10761659 polymorphism between Zhuang and Han patients with Crohn＇s disease or ulcerative colitis （P 〉 0.05）. CONCLUSION： The rs10761659 polymorphism of the 10q21 gene is not associated with susceptibility to IBD in the Zhuang population in Guangxi.