β_2肾上腺素能受体基因Arg16/Gly的多态性与新疆哈萨克族男性左室肥厚的相关性

Correlativity between β2-adrenergic receptor gene +46 Arg16/Gly polymorphism and left ventricular hypertrophy in males of Kazakh nationality in Xinjiang

目的探讨β2肾上腺素能受体（β2-adrenergic receptor，ADRβ2）基因＋46A—G（Arg16／Gly）的多态性在哈萨克族男性左室肥厚（LVH）发生中的作用。方法采集191例20～69岁哈萨克族人的遗传标本，采用聚合酶链反应-限制性酶切片段长度多态性（PCR—RFLP）技术分析ADRβ2基因＋46A—G的多态性。根据心电图的结果，将所有样本分为LVH组及非LVH组，观察各基因型和等位基因的分布频率与LVH的关系。结果哈萨克族男性LVH组与非LVH组间基因型频率的分布存在统计学差异（P〈0．05）。进一步用logistic回归模型扣除年龄、血压的影响后，显示携带GG基因型的个体发生LVH的风险为AA基因型个体的0．475倍。结论ADRβ2基因＋46A→G基因的多态性与哈萨克族男性LVH相关，GG基因型可能是哈萨克族男性LVH发生的保护性因子。

AIM To investigate the relationship between polymorphism of β2-Adrenergic receptor （ADRβ2） gene ＋ 46 A→G Arg16/Gly and left ventricular hypertrophy （LVH） in males of Kazakh nationality in Xinjiang. METHODS A total of 191 males of Kazakhs nationality aged from 20 to 69subjects were divided into two groups according to absence or presence of LVH determined by electrocardiography. The genotypes of ADRβ2 gene Arg16/Gly variant were detected by the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique and its distribution and relationship to LVH were investigated. RESULTS Significant differences in genotypes distributions were found between LVH and non-LVH groups （ P 〈 0.05 ）, though no significant differences of allele frequencies distribution were seen between the two groups. After adjustment age and blood pressure by logistic regression model, the LVH risk of the individuals with GG genotype was 0. 475 folds compared with the that of individuals with AA homozygote genotype. CONCLUSION Polymorphism of ADRβ2 gene Arg16/Gly is associated with LVH of males of Kazakh nationality and the GG genotype may be the protective factor of LVH.