Essential hypertension is one of the most common multifactorial diseases,affecting 20%-30%of the human population (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 hypertension 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). As the first and rate-limiting enzyme in initiating the endocrine cascade of RAS,rennin was considered to be an essential regulator in BP control,and thus much attention has focused on elucidating the mechanisms by which renin activity may be regulated.Previously,a 46-kDa protein named renin binding protein(RnBP) was proposed to play a role in
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。
