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目的:研究血管紧张素Ⅱ1型受体(angiotensinⅡtype 1 receptor,AT1R)基因rs388915多态性与汉族人群原发性高血压(EH)的相关性,为EH的诊断、治疗及易感性研究提供依据。方法:选取在北京安贞医院就诊的北方汉族原发性高血压患者640例(EH组)和442例体检血压正常者(正常对照组NT),应用荧光定量聚合酶链反应方法进行AT1R基因rs388915位点的多态性检测,比较不同分组人群的差异。结果:rs388915位点在EH组和NT组的基因型分别为GG型23/8、AG型211/125、AA型393/305;G等位基因频率分别为79.5%/83.9%,A等位基因频率分别为20.5%/16.1%。2组之间基因型和等位基因频率差异有统计学意义(分别为P=0.03;P=0.01)。显性模型、加性模型在2组间差异有统计学意义(P=0.019;P=0.03)。根据性别进行亚组分析,在女性人群中,EH组和NT组基因型分别为GG型7/3、AG型87/51、AA型132/127,2组之间基因型频率有差异(P=0.045);G等位基因频率28.7%/15.7%和A等位基因频率71.3%/84.3%,发现2组差异无统计学意义(P=0.000)。男性人群中,2组(EH/NT)患者基因型分别为GG型6/5、AG型124/74、AA型261/178,2组间差异无统计学意义(P=0.26);G等位基因频率19.5%/16.3%和A等位基因频率81.5%/83.7%,2组间差异无统计学意义(P=0.15)。经Logistic逐步回归分析,rs388915等位基因与EH发病密切相关(P=0.024,OR=1.341,95%Cl=1.039～1.1731)。结论:AT1R基因rs388915多态性可能与中国北方汉族人群原发性高血压的发病有关,特别是在女性人群中。
Objective: To investigate the association between rs388915 polymorphism of angiotensin Ⅱ type 1 receptor (AT1R) gene and essential hypertension (EH) in Han population, and to provide basis for the diagnosis, treatment and susceptibility of EH. Methods: One hundred and sixty-six patients with EH and 442 normal subjects with NT in our hospital were enrolled in Ahn Jung Hospital of Beijing. Fluorescent quantitative polymerase chain reaction (PCR) was used to detect the AT1R gene rs388915 Site polymorphism detection, differences in different groups of people. Results: The genotypes of rs388915 in EH group and NT group were GG type 23/8, AG type 211/125 and AA type 393/305, respectively. The frequencies of G allele were 79.5% / 83.9% The gene frequencies were 20.5% / 16.1% respectively. There was a significant difference in genotype and allele frequency between the two groups (P = 0.03; P = 0.01, respectively). Dominant model, additive model in the two groups the difference was statistically significant (P = 0.019; P = 0.03). According to the gender subgroup analysis, in the female population, the genotype frequencies of EH group and NT group were GG 7/3, AG 87/51, AA 132/137 respectively = 0.045). The G allele frequency was 28.7% / 15.7% and the A allele frequency was 71.3% / 84.3%. There was no significant difference between the two groups (P = 0.000). In the male population, genotypes of GG 6/5, AG 124/13, AA 261/178 in two groups (EH / NT) were no significant difference between two groups (P = 0.26); G The frequency of the allele was 19.5% / 16.3% and the frequency of the A allele was 81.5% / 83.7%. There was no significant difference between the two groups (P = 0.15). Logistic regression analysis showed that the rs388915 allele was closely associated with the pathogenesis of EH (P = 0.024, OR = 1.341, 95% Cl = 1.039-1.1731). Conclusion: The rs388915 polymorphism of AT1R gene may be related to the incidence of essential hypertension in Han population in northern China, especially in female population.