ATP1B1基因变异与蒙古族、汉族原发性高血压的相关性研究  

Correlation among Mongolian,Han nationality essential hypertension and ATP1B1 gene mutation

作　　者：常培叶[1] 赵平 刘志跃[3] 秦莉[4] 

机构地区：[1]内蒙古医科大学附属医院核医学科,内蒙古呼和浩特010050 [2]内蒙古自治区人民医院心内科 [3]内蒙古医科大学病理生理学教研室 [4]内蒙古鄂尔多斯市中心医院检验科

出　　处：《心血管康复医学杂志》2016年第3期234-241,共8页Chinese Journal of Cardiovascular Rehabilitation Medicine

基　　金：中国科学院"西部之光"人才培养计划项目(2012年);内蒙古自然科学基金杰出青年项目(2012JQ04)~~

摘　　要：目的:探讨ATP1B1基因在蒙古族、汉族原发性高血压中的作用。方法:采用病例—对照研究的方法在内蒙古自治区锡林郭勒盟选择蒙古族高血压患者212例(蒙古族高血压组),蒙古族正常者217例(蒙古族正常对照组),汉族高血压患者200例(汉族高血压组),汉族正常者216例(汉族正常对照组)。采用多重聚合酶链反应和多重连接酶反应进行基因分型并构建单体型。结果:ATP1B1基因共挑选出13个tagSNP位点,在蒙古族人群中,ATP1B1基因rs1200130位点的基因型和等位基因型频率在高血压组和正常对照组之间差异有统计学意义(P<0.05);在汉族人群中,ATP1B1基因rs3766031位点基因型频率在高血压组和正常对照组间差异有统计学意义(P<0.05),其余SNP位点的基因型频率和等位基因型频率在高血压组和正常对照组之间差异均无统计学意义(P均>0.05)。单体型分析显示:ATP1B1基因构成的单体型ACT的频率在蒙古族高血压组显著低于正常对照组(10.2%比15.0%,P=0.03),在汉族人群中ATP1B1基因构成的各单体型的频率在高血压组和正常对照组间的分布差异均无统计学意义(P均>0.05)。结论:ATP1B1基因rs1200130位点多态性和蒙古族原发性高血压有关;充分携带单体型ACT的个体发生高血压的风险降低。Objective： To explore the role of ATP1B1 gene in Mongolian and Han nationality patients with essential hyper-tension （EH）. Methods： Using cas-control method,a total of 212 Mongolian nationality EH patients （Mongolian EH group）,217 Mongolian nationality normal subjects （Mongolian normal control group）,200 （Han nationality EH group） and 216 Han nationality normal subjects （Han normal control group） were selected from XilinGol League of Inner Mongolia autonomous region. Multiplex polymerase chain reaction and multiplused to perform genotyping and establish haplotype. Results： A total of 13 tagSNPs were selected from ATP1B1 gene. A-mong Mongolian population, there were significant difference in rs1200130 genotype and allele frequencies of ATP1B1 gene betweenEH group and normal control group,P 〈 0. 05 ; among Han population, there was significant difference in狉3766031 genotype frequency of ATP1B1 gene between EH group and normal control group,P〈0. 05nificant difference in other SNP genotypes and allele frequencies between EH group and all. Haplotype analysis indicated that compared with Mongolian normal control group,there wahaplotype ACT frequency of ATP1B1 gene （15. 0% vs. 10. 2% ,P =0. 03） in Mongonificant difference in all haplotypes between Han nationality EH group and Han normal control group,P 〉 0 . 05 all. Conclusion： Rs1200130 SNP polymorphism of ATP1B1 gene is related to Mongolian EH; risk of hypertension reduces in indvidual sufficiently carrying haplotype ACT.

关 键 词：高血压 钠钾交换ATP酶 多态性 单核苷酸 

分 类 号：R544.109[医药卫生—心血管疾病]