Essential hypertension is one of the most common multi- factorial diseases, affecting 20%--30% of the human popula- tion （Ibrahim and Damasceno, 2012）. Based on the results of twin studies, adoption studies and statistical analyses of blood pressure （BP） across various pedigrees, it has been estimated that 30%--50% of the variability in blood pressure among the general population is genetically determined （Garcia et al., 2003）. Although the genetic mechanisms of essential hyper- tension have not been studied well, investigations for the genes that constitute the renin-angiotensin system （RAS） appear to be particularly promising, since this system plays a central role in the regulation of blood pressure （Ferrario, 2010）.
目的:探讨血色沉着病基因(hemochromatosis,HFE)标签单核苷酸多态(tag single nucleotide polymorphism,tag SNPs)与云南汉族、彝族和哈尼族原发性高血压发病的关联性。方法:采用病例-对照关联研究策略,运用聚合酶链式反应-限制性片段长度多态方法,对云南940例汉族人、598例彝族人和661例哈尼族人进行HFE基因5个标签SNPs(rs9366637、rs1799945、rs2071303、rs1800758、rs2858996)的多态进行检测。结果:检测到rs9366637位点在不同民族人群与高血压发病的关联性结果不一致。汉族整体人群和男性人群中,发现rs9366637位点C等位基因和CC基因型是高血压发病的风险因子;而在哈尼族混合和女性人群,发现该位点T等位基因和TT基因型是高血压发病的风险因子;在彝族人群,未发现rs9366637位点多态与高血压发生相关。此外,发现rs2858996T等位基因和TT基因型在汉族整体和男性人群是高血压发病的保护因子。结论:HFE基因rs9366637和rs2858996位点可能是云南汉族和哈尼族高血压发生的易感标记,在云南汉族和哈尼族人群中值得关注。
