β2-肾上腺素能受体基因Arg16/Gly多态性与新疆哈萨克族高血压的关系

Association between Arg16/Gly Polymorphism of β_2-Adrenergic Receptor Gene and Hypertension in Kazakans of Xinjiang

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。

The aim of the study was to investigate the relationship between Arg16/Gly polymorphism of β2-adrenergic receptor gene（β2-AR）and essential hypertension（EH）in Kazakans of Xinjiang.The case-control study recruited 564 subjects from Kazakans of Xinjiang,China,with age from 30 to 70,347 subjects suffered from EH and 217 subjects were normotensive.The polymerase chain reaction-restriction fragment length polymorphism technique was developed to genetype the Arg16/Gly polymorphism of β2-AR gene.The frequencies of genotypes Arg16/Arg,Arg16/Gly,Gly16/Gly in EH group were 32.6%,43.2%,24.2%,respectively,and in normtensive group were 30.9%,47.0%,22.1%,respectively.No significant differences were found in frequencies of both genotypes and alleles between hypertensive and normotensive groups in this population（P0.05）.To eliminate influence of age,all subjects are divided into 4 subgroups with different age-segment,which were 30～,40～,50～,and（60～70）years old.That frequency of Gly16/Gly genotype in EH group was significantly higher than normotensive group in subgroup of（30～39）years old（P=0.039）,and there was still significant difference between EH and normotensive group when Arg16/Arg and Arg16/Gly were combined（P=0.012）are found.No significant differences were found in other three subgroup.These data show that Gly16/Gly genotype of β2-AR gene may play an important role in development of hypertension in young kazakans（40 years old）of Xinjiang.