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目的既往的研究发现:β2肾上腺素受体基因(β2-adrenergic receptor,β2-AR)距离编码区起始点上游1023位碱基G→A多态同中国汉族人群重度高血压相关,本研究旨在探索此多态与另外两个群体—哈萨克族及维吾尔族原发性高血压的相关性。方法选择新疆巴里坤县牧区哈萨克族牧民高血压病患者186例及正常血压者171例;选择新疆吐鲁番地区维吾尔族农民高血压病患者160例,正常血压者193例。应用PCR-RFLP法分别对入选样本进行β2-AR基因G(-1023)A位点扩增和基因分型。结果β2-AR基因G(-1023)A多态在两群体中均符合Hardy-Weinberg平衡。GG,AG,AA 3种基因型在哈萨克族及维吾尔族正常人群中频率分别为0.318,0.576,0.106和0.409,0.409,0.181,两民族基因型频率分布差异有统计学意义(P<0.05);该位点各基因型频率及等位基因频率在哈萨克族高血压病组和正常对照组中差异无统计学意义,但根据血压高低对高血压病组进行分组后发现:哈萨克族重度高血压组和正常对照组基因型频率差异有统计学意义(P<0.05),哈萨克族重度高血压组AA型频率(0.168)高于正常血压组(0.126);维吾尔族群体中基因型频率及等位基因频率在高血压组和正常对照组中差异均无统计学意义,根据血压程度对高血压组进行分组后也未发现轻、中、重度高血压组同正常对照组基因型频率有差异。结论β2-AR基因G(-1023)A多态性与哈萨克族人群重度高血压相关,验证了汉族人群中的研究结果。
Objective Previous studies have found that β2-adrenergic receptor (β2-AR) is associated with severe hypertension in Chinese Han population at the position 1023 bp upstream from the start of the coding region Explore the association of this polymorphism with two other groups - Essential Hypertension in Kazak and Uigur. Methods A total of 186 cases of hypertension and 187 cases of normal blood pressure among Kazak herdsmen in pastoral area of Barkol County, Xinjiang were selected. 160 cases of Uighur peasants hypertension and 193 cases of normal blood pressure were selected in Turpan, Xinjiang. The PCR-RFLP method was used to amplify and genotype the G (-1023) A site of β2-AR gene. Results The G (-1023) A polymorphism of β2-AR gene was in accordance with Hardy-Weinberg equilibrium in both groups. The frequencies of genotypes of GG, AG and AA were 0.318,0.576,0.106 and 0.409,0.409,0.181 respectively in Kazakh and Uygur nationality population. The frequency distribution of genotypes of two genotypes was statistically significant (P <0.05). There were no significant differences in the frequencies of genotypes and alleles between Kazakens and Hypertension patients in Kazak Hypertension group. However, according to the level of blood pressure in Hypertension group, (P <0.05). The frequency of AA genotype in Kazak severe hypertension group (0.168) was higher than that in normal blood pressure group (0.126). The genotype frequencies and alleles in Uygur population There was no significant difference in the frequency between the hypertensive group and the normal control group. There was also no difference in the genotype frequencies of mild, moderate and severe hypertension group and normal control group after grouping the hypertension group according to the degree of blood pressure. Conclusions The G (-1023) A polymorphism of β2-AR gene is associated with severe hypertension in Kazakh population, which validates the findings in Han population.