肿瘤坏死因子β基因A80C多态与原发性高血压

目的：研究肿瘤坏死因子β（tumor necrosis factor-β，TNF-β）基因外显子l中的A80C多态与汉族人群原发性高血压的相关性。方法：采用基质辅助激光解析电离飞行时间质谱（MALDI-TOF-MS）检测方法．在122例原发性高血压患者和202名健康对照者中，对TNF-β基因外显子1的A80C多态进行基因分型。结果：A80C多态的基因型分布及其等位基因频率在2组间相比均无显著性差异（P〉0．05）。但在女性高血压患者中，其CC、CA和4A基因型分布与对照组相比有明显差异（P〈0．05），女性CC基因型高血压的发病危险是A等位基因携带者的2．27倍95％可信区间（CI）：1．111-4．656]，其等位基因频率在2亚组间相比则无显著性差异（P〉0．05）。女性CC基因型高血压患者的血清总胆固醇和低密度脂蛋白胆固醇浓度亦明显升高（P〈0．01）。结论：TNF-β基因外显子1的A80C多态可能与女性原发性高血压的发生相关，尤其是携带CC基因型的女性。

A80C polymorphism of tumor necrosis factor-β gene and essential hypertension

Objective To investigate the association between A 80C polymorphism in exon 1 of tumor necrosis factor-β （TNF-β） gene and essential hypertension （EH） in Chinese Han population. Methods The A80C polymorphism in exon 1 of TNF-β gene was analyzed by matrix-assisted laser desorption/ionization time of flight mass spectrometry （MALDI-TOF-MS） in 122 patients with EH and 202 healthy controls. Results The genotype distribution and alleles frequencies of A 80C polymorphism were not significantly different between the two groups （P〉0.05）. However, further subgroup analysis showed that the genotype distribution of A80C polymorphism was significantly different between EH group and control group in females （P〈0.05）. The odds ratio of EH in females carrying CC genotype compared with A allele carriers was 2.27 （95% CI：1.111-4.656）. Allele frequency was not significantly different between the two subgroups （/〉〉0.05）. Serum total cholesterol and low-density lipoprotein cholesterol（LDL-C） levels in female EH patients carrying CC genotype were significantly higher （P〈0.01）. Conclusions ASOC polymorphism in exon 1 of TNF-β gene might be associated with the development of hypertension in Chinese female Han population, especially in those carrying CC genotype.