Ma Hou-Xun, Xie Zheng-Xiang, Niu Yong-Hong, Li Zhang-Yong, Zhou Ping
Department of Geriatrics, The First Affiliated Hospital of Chongqing University of Medical Sciences, Chongqing 400016, China.
Yi Chuan. 2006 Jan;28(1):3-10.
To study single nucleotide polymorphisms (SNP) in A-922G, T-786C and G894T of endothelial nitric oxide synthase (NOS3) and to correlate the distribution of their allelic combinations with hypertension in Chinese Han nationality population, genomic DNA was isolated from venous blood leukocytes from 192 unrelated patients with hypertension (95 females and 97 males) and 122 healthy unrelated individuals (46 females and 76 males) as controls. SNPs of NOS3 A-922G, T-786C and G894T were genotyped by allele-specific primer (ASP) PCR. The distribution of genotype combinations of three SNPs was determined by clustering analysis. There were no difference in allele genotype distribution frequency and haplotype frequency of NOS3 G894T, NOS3 A-922G and NOS3 T-786C between the essential hypertension group and the healthy population (P>0.05). According to sex stratification, no association between essential hypertension and SNP of NOS3 A-922G,NOS3 T-786C or NOS3 G894T has been found in either the male subgroup or the female subgroup. In respect of allele genotype combination frequency in the natural distribution of NOS3 A-922 G, NOS3 T-786C and NOS3 G894T SNP, there was significant difference only in the allele genotype combination frequency of NOS3 G894G+A-922G+T-786T between the hypertension group and the healthy group (P<0.05, Chi2=4.5944). According to sex stratification, there were no significant difference in all above allele genotype combination frequency in three sites of NOS3 SNP between the hypertension male subgroup and the healthy male subgroup (P>0.05). There was significant difference in the allele combination frequency of NOS3 G894G +A-922G+T-786C between the hypertension female subgroup and the healthy female subgroup(P<001, Chi2=8.502). There was no association of SNP in NOS3 A-922G, NOS3 T-786C or NOS3 G894T with hypertension in the Chinese Han nationality population, nor was there a sex difference. The combination frequency of allele NOS3 G894G + A-922G + T-786C in the hypertension female subgroup was much lower than that in the healthy female subgroup, suggesting that female population with this combination genotype may be less susceptible to hypertension.
为研究内皮型一氧化氮合酶（NOS3）基因A-922G、T-786C和G894T位点的单核苷酸多态性（SNP），并探讨其等位基因组合分布与中国汉族人群高血压的相关性，从192例无亲缘关系的高血压患者（95例女性，97例男性）和122例无亲缘关系的健康个体（46例女性，76例男性）的静脉血白细胞中提取基因组DNA作为对照。采用等位基因特异性引物（ASP）PCR对NOS3基因A-922G、T-786C和G894T位点的SNP进行基因分型。通过聚类分析确定3个SNP位点基因型组合的分布情况。原发性高血压组与健康人群在NOS3 G894T、NOS3 A-922G和NOS3 T-786C位点的等位基因基因型分布频率和单倍型频率差异无统计学意义（P>0.05）。按性别分层，在男性亚组和女性亚组中，原发性高血压与NOS3 A-922G、NOS3 T-786C或NOS3 G894T位点的SNP均无关联。就NOS3基因A-922G、T-786C和G894T位点SNP自然分布中的等位基因基因型组合频率而言，高血压组与健康组仅在NOS3 G894G+A-922G+T-786T的等位基因基因型组合频率上存在显著差异（P<0.05，χ2=4.5944）。按性别分层，原发性高血压男性亚组与健康男性亚组在NOS3基因3个位点的上述所有等位基因基因型组合频率上差异均无统计学意义（P>0.05）。原发性高血压女性亚组与健康女性亚组在NOS3 G894G+A-922G+T-786C的等位基因组合频率上存在显著差异（P<0.01，χ2=8.502）。中国汉族人群中NOS3基因A-922G、T-786C或G894T位点的SNP与高血压无关联，也无性别差异。原发性高血压女性亚组中NOS3 G894G+A-922G+T-786C等位基因组合频率远低于健康女性亚组，提示具有这种组合基因型的女性人群可能对高血压的易感性较低。
