Yang B, Xu J R, Liu X M, Yang Y, Na X F, Li M, Wang Y J
Key Laboratory of the Ministry of Education for Conservation and Utilization of Special Biological Resources in Western China, Yinchuan, China.
Genet Mol Res. 2013 Mar 26;12(3):3821-9. doi: 10.4238/2013.March.26.2.
We investigated a possible association of polymorphism of the eNOS gene and essential hypertension in the Chinese Hui population; polymorphisms of rs2070744 (T>C), rs1799983 (G>T), rs1800780 (A>G), and rs3918181 (A>G) loci of the eNOS gene were examined. We found that the genotypic frequencies at rs1799983 and rs1800780 loci differed significantly between patients with essential hypertension and control cohorts. The allelic frequency of the rs1799983 locus also differed significantly between essential hypertension patients and non-essential hypertension controls in this population. Additionally, the G allele of the rs1799983 locus was less frequent in the essential hypertension patients than in controls, with an odds ratio (OR) value of 3.851 [95% confidence interval (95%CI) = 2.236-6.631]. This is an indication of a protective factor of essential hypertension in Chinese Hui people. Haplotype analysis using the 4 SNPs revealed 15 haplotypes. Haplotype frequencies of CGAG, TTAG, TGGG, TTGG, and TTGA were significantly different in essential hypertension patients compared to non-essential hypertension controls. Individuals with haplotypes CGAG [χ² = 7.371, OR (95%CI) = 0.352 (0.161-0.770)] and TGGG [χ² = 6.180, OR (95%CI) = 0.600 (0.400- 0.899)] appear less likely to have essential hypertension. However, Chinese Hui with the haplotype TTAG are at risk to develop essential hypertension [χ² = 10.816, OR (95%CI) = 2.689 (1.466-4.932)]. We conclude that polymorphism of the eNOS gene is associated with susceptibility to essential hypertension in the Chinese Hui population.
我们研究了中国回族人群中内皮型一氧化氮合酶（eNOS）基因多态性与原发性高血压之间可能存在的关联；检测了eNOS基因rs2070744（T>C）、rs1799983（G>T）、rs1800780（A>G）和rs3918181（A>G）位点的多态性。我们发现，原发性高血压患者与对照队列在rs1799983和rs1800780位点的基因型频率存在显著差异。在该人群中，原发性高血压患者与非原发性高血压对照在rs1799983位点的等位基因频率也存在显著差异。此外，rs1799983位点的G等位基因在原发性高血压患者中的频率低于对照组，优势比（OR）值为3.851 [95%置信区间（95%CI）= 2.236 - 6.631]。这表明在中国回族人群中它是原发性高血压的一个保护因素。使用这4个单核苷酸多态性（SNP）进行单倍型分析，共发现15种单倍型。与非原发性高血压对照相比，原发性高血压患者中CGAG、TTAG、TGGG、TTGG和TTGA单倍型的频率存在显著差异。具有CGAG单倍型的个体[χ² = 7.371，OR（95%CI）= 0.352（0.161 - 0.770）]和TGGG单倍型的个体[χ² = 6.180，OR（95%CI）= 0.600（0.400 - 0.899）]患原发性高血压的可能性似乎较小。然而，具有TTAG单倍型的中国回族人群患原发性高血压的风险较高[χ² = 10.816，OR（95%CI）= 2.689（1.466 - 4.932）]。我们得出结论，eNOS基因多态性与中国回族人群原发性高血压的易感性相关。
