云南汉族人群CD40基因多态性与2型糖尿病的相关性  

Polymorphisms in CD40 Gene were Associated with T2DM in A Chinese Han population from Yunnan Province

作　　者：张新文[1] 陶文玉[2] 赵凎 杨曼[2] 陈珺 王晓苓[2] 周紫云 赵雨笛 刘楠楠 史荔[1] 李奕平[2] ZHANG Xinwen;TAO Wenyu;ZHAO Gan;YANG Man;CHEN Jun;WANG Xiaoling;ZHOU Ziyun;ZHAO Yudi;LIU Nannan;SHI Li;LI Yiping(Institute of Medical Biology,Chinese Academy of Medical Sciences ＆ Peking Union Medical College,Kunming 650118,Yunnan,China;Department of Endocrinology and Metabolism,The Second People＇s Hospital of Y-unnan Province ＆ The First Hospital of Yunnan University ＆ The Fourth Affiliated Hospital of Kunming Medical University,Kunming 650021,Yunnan,China;School of Life Science,Yunnan University,Kunming 650500,Yunnan,China)

机构地区：[1]中国医学科学院&北京协和医学院医学生物学研究所,云南昆明650118 [2]云南省第二人民医院&云南大学第一医院&昆明医科大学第四附属医院,内分泌代谢科,云南昆明650021 [3]云南大学生命科学学院,云南昆明650500

出　　处：《贵州医科大学学报》2018年第5期508-512,共5页Journal of Guizhou Medical University

基　　金：国家自然科学基金项目(31660313、30960148);云南省科技厅-昆明医科大学应用基础研究联合专项(2013FB181)

摘　　要：目的:研究CD40基因单核苷酸多态性(SNPs)位点rs1883832和rs4810485与云南汉人群2型糖尿病(T2DM)的相关性。方法:选取云南地区汉族人群T2DM患者343例作为病例组,健康体检者325例作为对照组,采用Taqman探针法对CD40基因SNPs位点rs1883832和rs4810485进行基因分型,分析其等位基因和基因型在病例组和对照组中的分布特征;构建2个SNPs位点的单倍型,分析各单倍型在2组中的分布差异。结果:rs4810485等位基因G在病例组中的分布频率显著高于对照组(P=0.014),该位点等位基因G可能是云南汉族人群T2DM发生的风险因素(OR=1.323、95%CI为1.057~1.655,P<0.05);rs1883832等位基因和基因型在两组中分布频率比较,差异无统计学意义(P>0.05);单倍型分析结果显示rs1883832C-rs4810485G单倍型可能会增加T2DM发生风险的因素(OR=1.43、95%CI为1.15~1.78,P<0.05)。结论:CD40基因SNPs位点rs4810485等位基因G和rs1883832C-rs4810485G单倍型可能是云南汉族人群T2DM发生的风险因素。Objective： To investigate the association of single nucleotide polymorphisms（ SNPs） in CD40 gene（ rs1883832 and rs4810485） with type 2 diabetes mellitus（ T2DM） in a Yunnan Han population. Methods： Taqman assay was used to genotype rs1883832 and rs4810485 in 343 T2DM patients and 325 healthy individuals. And the allelic and genotypic distribution of the SNPs in T2DM patients and healthy controls were analyzed. Additionally,the haplotypes were constructed and the association of the haplotypes with T2DM was analyzed. Results： The results showed that the allelic frequency of rs4810485 G was significantly higher in T2DM patients than healthy controls（ P = 0. 014）,and rs4810485 G may be a risk factor for T2DM in Yunnan Han population（ OR = 1. 323,95% CI：1. 057 - 1. 655,P〈0. 05）. However,there was no significant difference of the allelic and genotypic frequencies of rs1883832 between T2DM and control groups（ P〉0. 05）. In addition,the haplotype frequency of rs1883832 C-rs4810485 G was significantly higher in T2DM group（ P〈0. 05,OR = 1. 43;95% CI： 1. 15 - 1. 78）. Conclusion： Our results showed that the G allele of rs4810485 and the rs1883832 C-rs4810485 G haplotype might be associated with high risk of T2DM in a Yunnan Han population.

关 键 词：2型糖尿病 CD40基因 炎症反应 基因多态性 汉族 相关性分析 云南 

分 类 号：R587.1[医药卫生—内分泌]