广西人群中IL22基因启动子区rs2227513AG位点多态性的研究.docVIP

广西人群中IL22基因启动子区rs2227513AG位点多态性的研究 　　【关键词】 IL-22;单核苷酸多态性;种群 　　中图分类号：R394.5 文献标识?a：A DOI：10.3969/j.issn.1003-1383.2018.01.001 　　A study of rs2227513A/G polymorphism in the promoter region of IL-22 gene in Guangxi population 　　WANG Rong，HUANG Huatuo，LU Yulan，QIN Haimei，TAN Tan，LEI Ming，WANG Junli，WEI Yesheng 　　【Abstract】 Objective To study the distribution characteristic of rs2227513A/G polymorphism in Guangxi people and distribution difference with other ethnic groups. 　　Methods rs2227513A/G loci of the IL-22 gene in 280 Guangxi people were examined by using SNaPshot technique and DNA sequencing，and distribution differences in different genders and groups were analyzed statistically. 　　Results AA and AG genotypes were found in rs2227513A/G in Guangxi population，and distribution frequency was 95.0% and 5.0%，respectively.There was no statistically significant difference in genotype and allele frequency between different genders in Guangxi population（Pgt;0.05）.Compared with the distribution frequencies of genotype and allele in the population of Italy and Mexico which were published by human genome project（HapMap），difference was statistically significant（Plt;0.05），but not statistically significant compared with those in Beijing and Japan（Pgt;0.05）. 　　Conclusion rs2227513A/G polymorphism of IL-22 gene has differences in different races and regions. 　　【Key words】 IL-22;single nucleotide polymorphism;population 　　白细胞介素-22（Interleukin-22，IL-22）被Dumoutier等发现于2000年，属于IL-10家族成员之一[1]。IL-22主要由活化T淋巴细胞、NK细胞、Th17细胞等分泌，具有复杂的生物学功能。其主要通过与对应的受体（IL-22R）结合后通过激活下游信号转导及转录活化因子3（STAT3）而发挥着抗炎/促炎的双重作用，其作用受到局部炎性微环境及部分细胞因子（如IL-17）表达的影响[2～3]。已有报道IL-22在微生物感染、哮喘、皮肤病、自身免疫性疾病等的发病中扮演着重要角色[4～5]。随着分子生物学技术的逐步发展，IL-22基因多态性与疾病的关系成了近年来的研究热点。故我们筛选出IL-22基因启动子区中次要等位基因大于10%的单核苷酸多态性（single nucleotide polymorphism，SNP）位点rs2227513A/G进行基因分型，并分析其基因多态性在广西人群中的分布特点，这不仅有助于了解IL-22基因多态性在不同地区、种族中的分布情况，还可为进一步研究其对疾病的影响提供科学的基础资料。 1 对象与方法 　　1.1 研究对象 　　研究对象来自我院体检中心，各临床检查及实验室指标均正常的健康者。共280例，包括男性103例，女性177例，年龄18～