GIRK4基因多态性与新疆南疆地区维吾尔族原发性高血压的关联研究  

Association of GIRK4 gene polymorphisms with essential hypertension in obese ethnics Uygur from southern Xinjiang

作　　者：李南方[1] 杨海[1] 张德莲[1] 胡燕荣[1] 王红梅[1] 张菊红[1] 姚晓光[1] 洪静[1] 周玲[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压中心、新疆高血压研究所,乌鲁木齐830001

出　　处：《中华医学遗传学杂志》2014年第1期88-92,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81260129）

摘　　要：目的研究GIRK4基因多态性与新疆南疆地区维吾尔族人群原发性高血压的相关性。方法采取病例一对照研究方法，筛选1194名体重指数（body mass index，BMI）〉18．5kg／m。的人群，按高血压诊断标准，将收缩压≥140mmHg和（或）舒张压≥90mmHg作为高血压组（482例），收缩压≤140mmHg和（或）舒张压≤90mmHg作为正常组（712人），其中男性461人，女性733人。提取两组血样的基因组DNA，PCR扩增GIRK4基因并测序。结果通过对GIRK4基因测序，在上述人群中发现171C／T（rs6590357）、5126A／G（rs4937391）、6262A／C（rs2604204）、-20559C／G（rs11221497）等4个多态位点，其基因型分布均符合Hard—Weinberg平衡（P〉0．05）。连锁不平衡分析显示，rs11221497位点与rs4937391、rs2604204、rs6590357位点之间位点存在连锁不平衡（D’〈0．001），后3个位点之间连锁平衡（D’〉0．9）；rs6590357、rs4937391、rs2604204等3个位点的基因型在高血压组和对照组间的频率分布差异无统计学意义（P〉0．05）；rs11221497位点CC基因型平均收缩压[（132．69±26．9）mmHg）]高于CG基因型[（127．4±22．7）mmHg]及GG基因型[（121．1±26．3）mmHg]；CC基因型舒张压[（79．4±15．6）mmHg]也高于CG基因型[（77．1±14．1）mmHg]和GG基因型[（72．9±14．8）mmHg]，其中CC型与GG型间平均收缩压及舒张压差异有统计学意义（P〈0．05）；基因频率分析显性模型显示rs11221497位点CC基因型在高血压组分布频率高于正常组，两组间比较差异有统计学意义[P〈0．05，OR-0．67（0．49～0．93）]；Logistic回归分析显示，在校正吸烟、年龄、BMI后，rs11221497位点与新疆维吾尔族肥胖人群高血压相关。单倍型分析发现,H6单倍型（C—G-C-G）在正常组中分布明显高于高血压组，差异有统计学意义（P〈0．05），是其保护性因子。结论GIRK4基因rs11221497位点可能和新疆�Objective To assess the association of polymorphisms of G protein coupled inwardly- rectifying potassium channels 4 （GIRK4） gene with essential hypertension in ethnic Uygurs from southern Xinjiang. Methods A total of 1194 （461 males and 733 females） Uygur residents aged 30 to 70 and with a body mass index （BMI） over 18.5 kg/m^2 were selected from Hetian region. All of the subjects have received questionnaire survey, physical examination, biochemical analysis and blood pressure measurement. They were divided into hypertensive group and normotensive group. Genotyping by the TaqMan polymerase chain reaction method was performed for 4 common single nucleotide polymorphisms （rs4937391, rs2604204, rs6590357 and rs1122149）, and a ease-control study was carried out. Results Genotype distributions of rs4937391, rs2604204, rs6590357 and rs1122149 in both groups were in Hardy Weinberg equilibrium （P） 0.05）. The average systolic blood pressure of CC genotype of rs11221497 single nucleotide polymorphism （SNP） [（132.69±26. 9） mmHg）] was higher than the CG genotype [（127. 4±22. 7） mmHg] and GG genotype [（121.1±26.3） mmHg]. There has a significantly difference in average systolic and diastolic blood pressures between CC and GG genotypes （P〈0.05）. A case-control association analysis revealed that the rs11221497 SNP was in association with essential hypertension with the dominant model [P〈0.05, OR = O. 67 （0.49-0.93） ]. Haplotype analysis indicated that H6 （C-G-C-G） was significantly more common in normotensive group than hypertensive group （P=0. 001）. Conclusion The rs11221497 SNP of the GIRK4 gene is associated with essential hypertension in ethnic Uygur population in Xinjiang.

关 键 词：GIRK4基因 遗传多态性 维吾尔族 原发性高血压 

分 类 号：R544.1[医药卫生—心血管疾病]