EPAS1基因rs1868092位点多态性与中国藏族人群高原红细胞增多症的相关性研究

Study on the Correlation between Polymorphism of EPAS1 Gene rs1868092 and High Altitude Polycythemia in Tibetan Population

探讨EPAS1基因rs1868092位点多态性与藏族人群高原红细胞增多症(HAPC)的相关性。方法:用TaqMan探针法对80例藏族HAPC患者和85例藏族健康受试者EPAS1基因SNP rs1868092位点进行检测,分析SNP rs1868092位点与HAPC发生的相关性。结果:HAPC患者EPAS1基因rs1868092位点GG基因型的频率(11.250%vs.2.353%,P=0.005,OR=7.375,95%CI=1.508~36.066)和等位基因G的频率(33.125%vs.16.471%,P<0.001,OR=2.512,95%CI=1.490~4.234)显著高于健康受试者,差异有统计学意义;显性模式下HAPC患者的GG+AG基因型频率(P=0.002,OR=2.774,95%CI=1.466~5.249)显著高于健康受试者,差异有统计学意义。结论:EPAS1基因SNP rs1868092位点的G等位基因是西藏地区藏族人群发生HAPC的风险因子。

Objective:To explore the correlation between the polymorphism of rs1868092 in EPAS1 gene and high altitude polycythemia(HAPC)in Tibetan population.Methods:A TaqMan probe was used to examine of the EPAS1 gene SNP rs1868092 locus in 80 Tibetan HAPC patients and 85 healthy Tibetan analysis to investigate the correlation between the SNP rs1868092 locus and the occurrence of HAPC.Results:The frequency of EPAS1 gene rs1868092 genotype GG(11.250%vs.2.353%,P=0.005,OR=7.375,95%CI is 1.508-36.066)and allele G(33.125%vs.16.471%,P<0.001,OR=2.512,95%CI is 1.490-4.234)was significantly higher than that in the healthy subjects,with statistical significance.Under the dominant model,the frequency of GG+AG genotypes in HAPC patients(P=0.002,OR=2.774,95%CI is 1.466-5.249)was significantly higher than that in healthy controls,with statistical significance.Conclusion:The G allele of the rs1868092 SNP locus of the EPAS1 gene is a risk factor for Tibetan population to develop HAPC.