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研究β2-肾上腺素能受体(β2-AR)基因Arg16/Gly多态性与新疆哈萨克族人群原发性高血压(EH)的关系。入选564例(30～70)岁的哈萨克族牧民。EH组347例、正常血压组217例。采用聚合酶链反应-限制性酶切片段多态性(PCR-RFLP)技术检测和分析该人群β2-AR基因Arg16/Gly多态性,观察各基因型和等位基因频率在该人群EH和正常血压组的分布。β2-AR基因Arg16/Arg、Arg16/Gly、Gly16/Gly三种基因型频率在该人群EH组中分别为:32.6%、43.2%、24.2%;在对照组中其相应频率分别为30.9%、47.0%、22.1%,两组间基因型频率和等位基因频率均无统计学差异。为排除年龄的影响,将该人群按年龄分为30岁～、40岁～、50岁～、(60～70)岁四个亚组,发现在30岁～39岁年轻人群亚组中EH组Gly16/Gly纯合型频率(33.3%)明显高于正常血压组(13.8%),差异有统计学意义(P=0.039);进一步做χ2分割,将Arg16/Arg型及Arg16/Gly型合并后,再进行两两比较,差异仍有统计学意义(P=0.012)。其余三个亚组中不同基因型及等位基因频率在EH组和正常血压组的分布无显著性差异。β2-AR基因Gly16/Gly纯合型可能是新疆哈萨克族40岁以下年轻人原发性高血压的易感基因。
To investigate the relationship between the Arg16 / Gly polymorphism of β2-adrenoceptor (β2-AR) gene and essential hypertension (EH) in Xinjiang Kazak population. Selected 564 cases (30 to 70) -year-old Kazakh herdsman. EH group 347 cases, 217 cases of normal blood pressure group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect and analyze the Arg16 / Gly polymorphism of β2-AR gene in this population. The frequencies of EH and Normal blood pressure group distribution. The genotype frequencies of Arg16 / Arg, Arg16 / Gly and Gly16 / Gly of β2-AR gene were 32.6%, 43.2% and 24.2% in the EH group respectively. The corresponding frequencies in the control group were 30.9% 47.0% and 22.1% respectively. There was no significant difference in genotype frequency and allele frequency between the two groups. To exclude the impact of age, the population was divided into four groups according to age, 30 years old, 40 years old, 50 years old, (60-70 years old), and found in the EH group The frequency of Gly16 / Gly homozygote (33.3%) was significantly higher than that of the normal blood pressure group (13.8%) (P = 0.039), and then further divided by χ2, Arg16 / Arg and Arg16 / Gly , And then any pairwise comparison, the difference was still statistically significant (P = 0.012). There was no significant difference in the frequencies of different genotypes and alleles in the other three subgroups between the EH group and the normotensive group. The Gly16 / Gly homozygote of β2-AR gene may be a predisposing gene for essential hypertension in young people under 40 years of age in Xinjiang Kazakhs.