β_2肾上腺素受体基因5个位点SNPs与河南汉族原发性高血压关系的研究

The Association of 5 SNPs in β_2-adrenergic Receptor Gene and Essential Hypertension in Han Population of Henan Province

目的探讨β2肾上腺素受体(AR)基因5个位点单核苷酸多态性(SNP)与河南汉族原发性高血压的相关性。方法应用PCR-RFLP的方法,检测汉族原发性高血压患者163例和正常血压者172例的β2-AR基因5个位点的SNPs,并运用χ2检验分析数据,探讨β2-AR基因+523(C/A)位点、+1053(G/C)位点、+1239(G/A)位点、-1343(G/A)位点和-1429(A/T)位点多态性及其与河南汉族原发性高血压的相关性。结果 5个SNPs除-1429位点外,基因型分布均符合Hardy-Weinberg平衡,其中+1053(G/C)位点、-1343(G/A)位点和-1429(A/T)位点的基因型分布在高血压和对照组间的差异无统计学意义(χ2=4.342,0.498和5.237,P>0.05),+523(C/A)位点和+1239(G/A)位点在两组中差异具有统计学意义(χ2=9.781和13.920,P<0.01)。3种单体型(AACCA、GAGCA和GGGCA)在两组间的差异也有统计学意义(P<0.05)。结论我国河南汉族人群中β2-AR基因+532位点和+1239位点SNP与原发性高血压相关,可能是原发性高血压遗传的易感性标志之一。

Objective To study the association of SNPs of β2-adrenergic receptor gene and essential hypertension of Han population in Henan Province. Methods The samples including 163 patients with essential hypertension and 172 controls with normal blood pressure were collected from unrelated Han population. Five SNPs Genotypes of β2-AR were detected by PCR-RFLP method. Results The genotype frequencies of four SNPs except for site -1429 were in the Hardy-Weinberg equilibrium. No significant difference was observed in the distribution of genotypes of the SNP at site ＋1053, -1343 and -1429 between the two groups （χ^2=4.342, 0.498 and 5.237, all P〉0.05）. But the distribution of genotypes of the other SNPs （at ＋523 and ＋1239） in hypertension group was significantly different from those in control group （χ^2=9.781 and 13.920, all P〈0.01）. Conclusion These results indicate that the SNPs at ＋523 and ＋1239 of β2-adrenergic receptor gene may be associated with essential hypertension in Han population of Henan province.