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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。
Objective: To investigate the association of tag single nucleotide polymorphism (tag SNPs) of hemochromatosis (HFE) with the incidence of essential hypertension in Han, Yi and Hani ethnic groups in Yunnan Province. Methods: By using the case-control study, we used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect five HFE gene SNPs in 940 Hans, 598 Yi people and 661 Hani people in Yunnan Province (rs9366637 , Rs1799945, rs2071303, rs1800758, rs2858996) polymorphisms were detected. Results: The rs9366637 locus was found to be inconsistent with the prevalence of hypertension in different ethnic groups. Han population and the total population of men and found that rs9366637 C allele and CC genotype is a risk factor for the incidence of hypertension; and Hani mixed and female population found that the site T allele and TT genotype Hypertension risk factors; in Yi population, rs9366637 polymorphism was not found associated with hypertension. In addition, the rs2858996T allele and the TT genotype were found to be protective factors for hypertension in both Han and males. CONCLUSIONS: rs9366637 and rs2858996 sites of HFE gene may be susceptible markers of hypertension in Han and Hani ethnic groups in Yunnan Province, which deserves attention in Han and Hani ethnic groups in Yunnan Province.