宁夏回族人群eNOS基因多态性与原发性高血压关联性分析

Association between four SNPs of eNOS gene and EH in Ningxia Hui population

目的探讨在宁夏地区回族人群中eNOS基因4个SNP位点与原发性高血压(EH)的关联性。方法采用PCR-RFLP方法对134例EH患者及115例健康个体eNOS基因rs2070744(T>C)、rs1799983(G>T)、rs1800780(A>G)和rs3918181(A>G)共4个SNP位点进行检测。EH组与对照组间基因型频率、等位基因频率的差异比较采用χ2检验,并采用SHEsis在线分析软件对单倍型进行分析。结果 EH组和健康对照组间,rs1800780位点和rs1799983位点基因型频率的分布差异有统计学意义(P<0.05)。rs1799983位点等位基因频率的分布差异有统计学意义(P<0.05),其等位基因G的频率在EH组低于健康对照组,且OR值为3.851(95%CI:2.236～6.631)。4个SNP位点共检出15种单倍型,其中单倍型CGAG、TTAG、TGGG、TTGG、TTGA在宁夏回族健康人群及EH患者中差异有统计学意义(P<0.05)。单倍型CGAG、TGGG的OR值为0.352、0.600,95%CI小于1;单倍型TTAG的OR为2.689,95%CI大于1。结论 rs1799983位点等位基因G为宁夏回族人群易患EH的危险因子,单倍型CGAG与TGGG可降低回族EH的患病风险,而单倍型TTAG可增加回族EH的患病风险。

Objective To investigate the correlation between 4SNPs of eNOS gene and EH in Ningxia Hui population,and to provide theory basis for taking precautions against.Methods Polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）genotyping method were carried out to examine SNPs at rs2070744（TC）,rs1799983（GT）,rs1800780（A G）and rs3918181（AG）sites of eNOS gene,including 134EH patients and 115healthy individuals in Ningxia Hui population.For EH patient-control haplotype analyses,SHEsis online haplotype analysis software was applied.Results The genotypic frequencies of rs1800780and rs1799983had significant difference between patients group and normal group（P0.05）;The allele frequency of rs1799983had significant difference between patients group and normal group（P0.05）;and the frequency of G allele in EH group was less than healthy controls,which OR value was 3.851（95%CI：2.236-6.631）.According to the four SNP sites 15kinds of haplotype were detected,of which haplotype CGAG,TTAG,TGGG,TTGG,TTGA in Ningxia Hui healthy people and in patients with EH had a statistics difference（P0.05）.haplotype CGAG,TGGG OR of 0.352,0.600,95%CIless than 1;haplotype TTAG OR 2.689,95%CI greater than 1.Conclusion haplotype with the emergence of CGAG,TGGG may reduce the risk of EH Hui nationality.haplotype the emergence of TTAG may increase the risk of EH Hui nationality.