醛固酮合成酶基因多态性与哈萨克族人群高血压的关系

Aldosterone Synthase Gene(Cyp_(11)B_2) C-344T Polymorphism and its Association with Essential Hypertension in Kazak Population

目的探讨醛固酮合成酶(Cyp11B2)基因C-344T多态性与哈萨克族原发性高血压易感相关性。方法采用病例-对照相关分析,高血压患者354例(男性/女性=163/191),平均年龄52.80±11.46岁;正常血压对照360人(男性/女性=169/191),平均年龄41.96±13.78岁,均为哈萨克族牧民。应用聚合酶链反应/限制性片段长度多态性(PCR/RFLP)分析和PCR产物直接测序鉴定Cyp11B2调控区C-344T基因型。结果 (1)血脂测定结果表明,高血压组血清中TG、TC、ApoA、ApoB尿酸和肌酐水平明显高于对照组(P:0.0001～0.01)。(2)高血压组的BMI值远远高于对照组(P<0.0001)。(3)C-344T位点基因型分布在病例-对照,及男性/女性组均符合Hardy-weinberg遗传平衡定律。(4)高血压组(男性+女性)与对照组(男性+女性)基因型和等位基因频率分布无明显差异;按男、女性分组分析,高血压组男性-344C等位基因频率较对照组男性稍有增加,(47.24%vs38.17%,P=0.043)。结论本文研究结果表明,肥胖(BMI>24kg/m2)和高血脂可能是哈萨克族人群原发性高血压患病率高的重要危险因素,醛固酮合成酶C-344T多态性仅仅增加男性易感高血压的危险性。

Objective To investigate the genetic polymorphism of C-344T in the promoter geion of aldosterone synthase gene（Cyp11B2） and its association with essential hypertension in Kazak population.Methods We conducted a case-control study including 354 hypertensive patients（M/F=163/191）,mean aged 52.80±11.46 years and 360 heathy controls（M/F=169/191）,mean aged 41.96±13.78 years,who were recruited in the Aletai region of Xinjiang Uygur Autonomous Region.The genotyping of C-344T was performed using polymerase chain reaction-restriction fragment length polymorphism（PCR/RFLP） and PCR/sequencing technology.Results The levels of TG,TC,ApoA,ApoB,UA and Cr in plasma were significantly higher in hypertensive patients than those in controls（P：0.0001~0.01）.BMI in hypertensive patients was significantly larger than that in controls（P0.0001）.The distribution of C-344T genotype frequency in hypertensive patients and controls as well as in men and women were in accordance with the Hardy-Weinbery equeilibrium.No statistical differences in C-344T allele and genotype frequency distributions between hypertensives patients（men＋women） and control subjects were found,however,the difference of allele-344T frequency distribution between male hypertensives and male control subjects was statistically significant（47.24% vs 38.17%,P=0.043）,but not in the female.Conclusion Overweigh or obesity and high levels of TG,TC and UA are the risk factors for EH in Kazak,and allele-344T was associated with EH in men,not in women.