PPARG基因taqSNPs遗传模型及单体型与2型糖尿病的相关性  

Study on Relationship Between taq SNPs Genetic Model and Haplotypes of PPARG Gene and Type 2 Diabetes Mellitus

作　　者：多力坤·买买提玉素甫[1] 祖克拉.肉孜 宋曼殳[2] 赵飞飞[2] 伊力哈木.乃扎木 

机构地区：[1]新疆大学生命科学与技术学院,新疆 乌鲁木齐 830046 [2]首都医科大学公共卫生与家庭医学学院,北京 100069

出　　处：《新疆大学学报（自然科学版）》2015年第4期399-409,505,共11页Journal of Xinjiang University(Natural Science Edition)

基　　金：新疆维吾尔自治区自然科学基金项目(2013211A016);国家自然科学基金项目(31460285)

摘　　要：目的:探讨柯尔克孜人群PPARG基因taq SNPs位点遗传模型及单体型与2型糖尿病的关系.方法:选取柯尔克孜族50例对照和50例2型糖尿病患者分别分为对照和病例组.选择PPARG基因23个SNPs(rs1151999,rs1175540,rs17036242,rs1875796,rs1899951,rs2292101,rs2881654,rs2921190,rs2938397,rs2959272,rs2959273,rs2972162,rs3856806,rs4135247,rs4135275,rs4684846,rs6782475,rs709151,rs7615916,rs7626560,rs9310401,rs9817428,rs1801282),用MALDI-TOF-MS方法对所选SNP位点进行基因分型,并应用对照病例遗传模型及单体型分析方法进行相关性研究.结果:PPARG基因所选的23个SNP位点具有多态性(MAF≥0.05).rs1801282、rs1899951、rs2881654、rs2972162位点基因型在对照和病例组中的分布除了在隐性模型中未见显著的统计学意义之外,在共显性模型和显性模型均存在显著的统计学意义(P<0.001,P<0.05),rs2921190、rs2959272、rs1875796、rs1151999位点基因型在对照和病例组中的分布除了在共显性模型和隐性模型中未见显著的统计学意义之外,在显性模型存在显著的统计学意义(P<0.05).PPARG基因单体型区块Ⅰ7个SNPs(rs4684846,rs9817428,rs17036242,rs9310401,rs1801282,rs1899951,rs7615916)位点组成的4种主要单体型中GAACGAA单体型组间分布具有统计学差异(χ2=4.935,P=0.0263,P<0.05).单体型区块Ⅱ6个SNPs(rs2938397,rs2292101,rs2959273,rs4135275,rs709151,rs1175540)位点组成的6种主要的单体型组间分布均无统计学差异(P>0.05).结论:共显性、显性和隐性3个遗传模型下PPARG基因的rs1801282,rs1899951,rs2881654,rs2921190,rs2959272,rs1875796,rs4135275,rs1151999位点变异可能与柯尔克孜族人T2DM相关,GAACGAA单体型可能是柯尔克孜族T2DM的遗传标记.Objective： To study the relationship of PPARG gene haplotype with type 2 diabetes in Kirgiz people. Methods： Select 50 control and 50 patients with type 2 diabetes from Kirgiz people as control and case groups. Select 23 SNPs of PPARG gene（rs1151999, rs1175540, rs17036242, rs1875796, rs1899951,rs2292101, rs2881654, rs2921190, rs2938397, rs2959272, rs2959273, rs2972162, rs3856806, rs4135247, rs4135275,rs4684846, rs6782475, rs709151, rs7615916, rs7626560, rs9310401, rs9817428, rs1801282）, applied MALDITOF-MS-SNP genotyping methods for genotyping, and used case-control haplotypes analysis to study correlation. And studed corrilation through contrast with case genetic model and haplotype analysis method.Results： 23 SNP loci selected from PPARG gene have polymorphism（MAF = 0.05）. Distribution of rs1801282, rs1899951, rs2881654, rs2972162 locus in case patients and control group showed no significant statistical significance in the recessive model, but in the codominant and dominant models there are statistical significance（P0.001, P0.05）. Distribution of rs2921190, rs2959272, rs1875796, rs1151999 locus genotype in case patients and control group showed no statistical significance in the codominant and recessive model, but there are statistically significance in the dominant model（P0.05）. In four main haplotype＇s composed of seven SNPs（rs4684846, rs9817428, rs17036242, rs9310401 and rs1801282, rs1899951, rs7615916）site on PPARG gene haplotype block I, GAACGAA haplotype＇s distribution among groups have significant difference（χ2=4.935, P =0.0263,P0.05）.Distribution among groups in six main haplotype＇s composed of six SNPs（rs2938397, rs2292101, rs2959273, rs4135275, rs709151, rs1175540） site on haplotype block II, there are no significant difference（P0.05）. Conclusion： Under the three genetic models of codominant, dominant and recessive, PPARG gene＇s rs1801282, rs1899951, rs2881654, rs2921190, rs2959272, rs1875796, rs4135275,rs1151999 sites variation may be associated with

关 键 词：2型糖尿玻 PPARG 单体型 对照病例 柯尔克孜族 

分 类 号：Q349.5[生物学—遗传学]