新疆哈萨克族代谢综合征患者 PPARγ基因rs3856806、rs12490265、rs1797912和 rs1175543单体型和连锁不平衡分析  

Analysis of haplotype and linkage disequilibrium of PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 in patients with metabolic syndrome in Kazakhs of Xinjiang

作　　者：张眉[1] 马儒林[1] 郭恒[1] 丁玉松[1] 张景玉[1] 刘佳铭[1] 徐上知[1] 芮东升[1] 何佳[1] 闫贻忠 齐春娜[1] 郭淑霞[1] 

机构地区：[1]石河子大学医学院预防医学系,832002

出　　处：《中华内分泌代谢杂志》2016年第2期93-97,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：“十一五”国家科技支撑计划（2009BA182B04）;新疆生产建设兵团国际科技合作项目（2009YD33）

摘　　要：目的：探讨PPARγ基因rs3856806、rs12490265、rs1797912和rs1175543位点连锁不平衡及单体型对新疆哈萨克族人群代谢综合征的影响。方法应用MALDI-TOF-MS检测245例代谢综合征患者和244例对照者 PPARγ基因位点多态性。结果（1） rs3856806T 等位基因：12．53％对17．01％， rs12490265A等位基因：31．84％对38．52％，rs1797912C等位基因：35．31％对43．24％，rs1175543G等位基因：40．61％对47．54％，代谢综合征组上述等位基因频率均低于对照组（均P＜0．05）。（2） rs1797912与rs1175543、rs12490265与rs1175543之间均存在强的连锁不平衡。（3） AGCC和GAAT单体型频率在两组间有差异（均P＜0．05）。（4）同时携带rs3856806T、rs12490265A、rs1797912C、rs1175543G者患代谢综合征的风险是上述位点CGAA等位基因携带者的0．267倍。结论 PPARγ基因位点多态性与哈萨克族代谢综合征相关，rs1175543分别与rs1797912、rs12490265间均存在强的连锁不平衡，AGCC和GAAT单体型及同时携带TACG等位基因是代谢综合征的保护因素。Objective To investigate the effect of haplotype and linkage disequilibrium of PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 in patients with metabolic syndrome （ MS） in Kazakhs of Xinjiang.Methods MALDI-TOF-MS was used to detect PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 genotypes in 489 subjects （ including 245 MS and 244 controls ） .Results （ 1 ） The frequencies of rs3856806T, rs12490265A, rs1797912C and rs1175543G alleles for MS group in Kazakhs were all significantly lower than those for controls [ rs3856806T allele：12.53% vs 17.01%; rs12490265A allele： 31.84% vs 38.52%;rs1797912C allele：35.31%vs 43.24%;rs1175543G allele：40.61%vs 47.54%（all P〈0.05）].（2）Significant linkage disequilibrium were observed between PPARγgene rs1797912 and rs1175543, rs12490265, and rs1175543 polymorphisms.（3）AGCC and GAAT were significantly different between MS and control group in Kazakhs（both P〈0.05）.（4） Carrying rs3856806T, rs12490265A, rs1797912C, rs1175543G was 0.267 times that of carrying rs3856806C, rs12490265G, rs1797912A, rs1175543A.Conclusions The PPARγgene rs3856806, rs12490265, rs1797912 and rs1175543 polymorphisms were associated with metabolic syndrome in Kazakhs.There were very strong linkage disequilibrium between PPARγgene rs1797912 and rs1175543, rs12490265 and rs1175543 polymorphisms, The AGCC haplotype and GAAT haplotype may serve as protective factors of metabolic syndrome.Carrying rs3856806T, rs12490265A, rs1797912C, and rs1175543G may confer lower risk of MS in Kazakhs.

关 键 词：哈萨克族 代谢综合征 PPARΓ 单体型 连锁不平衡 

分 类 号：R589[医药卫生—内分泌]