广西壮族人群与汉族人群白细胞介素-12家族基因多态性分布与差异比较  

The distribution difference of IL-12 family polymorphisms between Zhuang population and Han population

作　　者：卢建勇 黄信顺 薛焱[1] 杨子聪[1] 张舒 黄瑛[2] 施莹[1] LU Jian - yong, HUANG Xin - shun, XUE Yan, YANG Zi - cong, ZHANG Shu, HUANG Ying, SHI Ying.(Department of Cardiovascular Medicine, People＇s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, Guangxi, Chin)

机构地区：[1]广西壮族自治区人民医院心血管内科,广西南宁530021 [2]广西壮族自治区人民医院超声科,广西南宁530021

出　　处：《广东医学》2018年第18期2741-2745,共5页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(编号:81460061;81460081);广西医疗卫生适宜技术研究与开发项目(编号:S201546)

摘　　要：目的分析白细胞介素-12(interleukin-12,IL-12)家族细胞因子单核苷酸基因多态性(single nucleotide polymorphisms,SNP)位点在壮族及汉族间的分布差异,为IL-12家族基因多态性相关疾病的地域性关联研究提供一定的理论依据。方法共纳入254例壮族健康人群及429例汉族健康人群进行分析。使用Puregene DNA提取试剂盒提取DNA,使用Sequenom MassArray系统对基因进行分型。结果 IL-12家族细胞因子IL-27p28基因上rs17855750、rs181206、rs40837位点,EBi3基因rs428253、rs393581位点、IL-12p35基因rs2243115、rs568408、rs582054、rs583911位点,IL-12p40基因rs3212227、rs56167332位点等位基因分布频率在两个民族间分布差异无统计学意义(P> 0. 05),EBi3 rs4740位点等位基因在两个民族间分布存在统计学差异,壮族人群中AA基因型分布频率明显高于汉族人群(26. 8%vs. 18. 9%,P=0. 034),壮族人群A等位基因分布频率明显高于汉族人群(51. 8%vs. 44. 9%,P=0. 014)。结论 EBi3 rs4740位点等位基因在两个民族间分布存在统计学差异,壮族人群中AA基因型分布频率明显高于汉族人群,这种差异可能是广西某些区域性疾病或疾病区域性特点的基因遗传原因之一。Objective To investigate the distribution difference of IL-12 family polymorphisms between Zhuang population and Han population,thus to provide the evidences for understanding of the distinctive characteristics of IL-12 family related diseases. Methods Our study enrolled 254 Zhuang healthy individuals and 429 Han healthy individuals.DNA was extracted usign Puregene DNA kits,and SNP genotyping were conducted using Sequenom MassArray System.Results There was no significant difference in rs17855750,rs181206,rs40837 in IL-27 p28; rs428253,rs393581 in EBi3; rs2243115,rs568408,rs582054,rs583911 in IL-12 p35; or rs3212227,rs56167332 in IL-12 p40 between Zhuang and Han healthy populations. The frequency of EBi3 rs4740 AA genotype in Zhuang population was significantly higher than that in Han population（ 26. 8% vs. 18. 9%,P = 0. 034）; and EBi3 rs4740 A allele was significantly higher in Zhuang healthy subjects than in Han healthy subjects（ 51. 8% vs. 44. 9%,P = 0. 014）. Conclusion There are significant differences in frequencies of genotype and allele distributions of EBi3 rs4740 between Zhuang and Han populations,suggesting a genetic factor of IL-12 family related diseases.

关 键 词：IL-12家族 基因多态性 分布特点 壮族人群 

分 类 号：R394[医药卫生—医学遗传学]