论文部分内容阅读
目的探讨血管紧张素Ⅱ 1型受体及2型受体基因(AT1R、AT2R)多态性与中国汉族人群肾上腺醛固酮腺瘤(A-PA)发病风险的相关性。方法提取148例APA组织DNA及192例正常人群外周血DNA;采用MGB-Taqman探针法对AT1R基因(rs5182、rs5186)和AT2R基因(rs5194、rs1403543)4个SNP位点进行基因型检测。SNPassoc 1.5-3软件分析Hardy-Weinberg平衡以及AT1R、AT2R基因多态性与APA发病危险的关联性。结果 4个位点基因型分布均符合Hardy-Weinberg平衡(P均>0.05)。APA组AT2R基因rs5194位点A等位基因频率(0.49)要高于正常人群组(0.35)(χ2=12.08,P=0.001)。以rs5194纯合子基因型GG为参照,纯合子基因型AA和杂合子基因型GA的APA发病风险均增高(OR=2.66,95%CI=1.45-4.87和OR=1.67,95%CI=1.02-2.74)。rs5194位点多态性在显性模型、隐性模型以及加性模型中均与APA发病相关联(OR=1.94,95%CI=1.23-3.06,P=0.003;OR=2.01,95%CI=1.17-3.45,P=0.01;OR=1.64,95%CI=1.21-2.20,P=0.001)。结论AT2R基因rs5194位点多态性和APA发病相关联,对该SNP位点的检测可能可以对预测APA的发病危险提供有用的遗传信息。
Objective To investigate the relationship between the polymorphisms of angiotensin Ⅱ type 1 receptor and type 2 receptor gene (AT1R, AT2R) and the risk of adrenal aldosteronism (A-PA) in Chinese Han population. Methods The DNA of 148 APA tissues and 192 normal controls were collected for DNA sequencing. The genotypes of AT1R gene (rs5182, rs5186) and AT2R gene (rs5194, rs1403543) were detected by MGB-Taqman probe. SNPassoc 1.5-3 software analysis of Hardy-Weinberg equilibrium and AT1R, AT2R gene polymorphisms associated with the risk of APA. Results The distribution of genotypes of four loci were in accordance with Hardy-Weinberg equilibrium (all P> 0.05). The frequency of allele A at rs5194 of AT2R gene in APA group (0.49) was higher than that in normal group (0.35) (χ2 = 12.08, P = 0.001). The risk of APA in homozygous genotype AA and heterozygous genotype GA was higher than that of genotype G5 of rs5194 (OR = 2.66, 95% CI = 1.45-4.87 and OR = 1.67, 95% CI = 1.02- 2.74). The rs5194 polymorphism was associated with APA in the dominant, recessive and additive models (OR = 1.94, 95% CI = 1.23-3.06, P = 0.003; OR = 2.01, 95% CI = 1.17-3.45, P = 0.01; OR = 1.64, 95% CI = 1.21-2.20, P = 0.001). Conclusion The rs5194 polymorphism of AT2R gene is associated with the pathogenesis of APA. The detection of this SNP locus may provide useful genetic information for predicting the risk of APA.