摘要
目的研究上皮细胞钠离子通道β亚单位基因SCNN1B羧基端单核苷酸多态性与北京市汉族高血压家系原发性高血压的关系。方法在北京市汉族常住人群中纳入原发性高血压家系108个（433人）,分成高血压患者组（229人）、高血压患者第一代和第二代亲属（血压正常）组（118人）和高血压患者配偶（血压正常）组（86人）。检测生化指标及心电图Sv1＋Rv5数值,并分析SCNN1B基因13号外显子及两翼部分单核苷酸多态性。结果在SCNN1B基因13号外显子的两翼部分符合最小等位基因频率≥5%的位点只有两个即rs3743966（A/T）、rs34618783（A/G）。3组间比较,高血压组的AA/rs3743966基因型频率明显高于其他两组（55.5%比44.9%和32.6%,χ^2=13.768,P〈0.01）,TT基因型频率明显低于其他两组（9.6%比15.3%和38.3%,χ^2=37.205,P〈0.01）。rs34618783位点基因型频率在3组间比较,差异无统计学意义。TT/rs3743966纯合子组的收缩压和舒张压水平比AA纯合子组平均低15.69 mmHg和9.14 mmHg,差异有统计学意义（均为P〈0.01）,其他生化指标在3组间比较差异均无统计学意义（均为P〉0.05）。多因素Logistic回归分析显示,TT/rs3743966基因型进入方程（OR：0.239,95%CI：0.117～0.489,P〈0.001）。结论 SCNN1B基因rs3743966位点TT基因型可能是北京市汉族高血压家系原发性高血压的保护性因素之一。
Objective To investigate the relationship between common polymorphisms in the Cterminus of SCNN1 B gene encoding the β- subunit of epithelial sodium channel（ ENaC） and essential hypertension（ EH） in Beijing Chinese hypertensive families. Methods A total of 433 subjects from 108 essential hypertension families were recruited. They were divided into three groups： EH probands（ n =229）,first- and second-degree relatives（ without EH） of probands（ n = 118） and spouses（ without EH）（ n =86）. Biochemical indicators,Sv1 ＋Rv5 of ECG and systematic screening of the C-terminus of SCNN1 B were performed. Results rs3743966 and rs34618783 satisfied minor allele frequency≥5% were found.Compared with the control subjects,hypertensive patients（ probands） were observed with a significantly higher frequency of AA genotype of rs3743966（ 55. 5% vs. 44. 9% and 32. 6%,χ^2= 13. 768,P〈0. 01）and a significantly lower frequency of TT genotype（ 9. 6% vs. 15. 3% and 38. 3%,χ^2= 37. 205,P〈0. 01）. There were no differences in terms of rs34618783 genotype frequencies among the three groups.Homozygotes for the rarer T allele had on average a 15. 69 mmHg lower SBP and a 9. 14 mmHg lower DBP than homozygotes for the common A allele（ both P〈0. 01）. In multivariable regression analyses,TT genotype of rs3743966 was found to be an independent protective factor of hypertension（ OR： 0. 239,95%CI： 0. 117-0. 489,P〈0. 001）. TT genotype of rs3743966 may be an independent protective factor of hypertension in Beijing Chinese hypertensive families.
出处
《中国心血管杂志》
2014年第4期252-256,共5页
Chinese Journal of Cardiovascular Medicine
关键词
上皮细胞钠通道
基因
单核苷酸多态性
原发性高血压
Epithelial sodium channel
Gene
Single nucleotide polymorphism
Essential hypertension
