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目的探讨中国平原汉族人群中EPAS1基因多态性同急性高原病(acute mountain sickness,AMS)易感性的关系。方法采取病例对照研究方法,根据AMS路易斯湖评分系统(LLS)对受试者进行AMS的判定。采用聚合酶链反应-连接酶检测反应方法(PCR-LDR)测定80例AMS患者和86例健康对照组人群EPAS1基因位点rs2044456、rs4953348的基因多态性。结果 AMS组及对照组中基因位点rs2044456、rs4953348均检测出AA、AG、GG基因型,rs2044456位点基因型及等位基因频率组间差异无统计学意义;rs4953348位点AG基因型频率与GG基因型频率相比,组间差异具有统计学意义(OR=0.453,95%CI 0.226～0.908,P=0.026);AMS组A等位基因频数显著低于对照组(25.0%vs 35.5%,OR=0.607,95%CI 0.377～0.975,P=0.039)。分别比较各位点不同基因型心率及血氧饱和度水平,发现该两个位点不同基因型携带者高原血氧饱和度具有统计学差异(P<0.05)。结论位点rs4953348基因多态性与mAMS易感性相关,携带AG基因型的人群患AMS的风险性可能较携带GG基因型人群低,而A等位基因则可能是mAMS的保护性因素;各位点不同基因型均同血氧饱和度有较强关联性(P<0.05)。
Objective To investigate the relationship between the polymorphism of EPAS1 gene and susceptibility to acute mountain sickness (AMS) in Chinese Han Chinese. Methods A case-control study was conducted to determine AMS in subjects based on the AMS Lake Louise scoring system (LLS). Polymerase chain reaction-ligase assay (PCR-LDR) was used to detect the polymorphisms of rs2044456 and rs4953348 in EPAS1 locus in 80 AMS patients and 86 healthy controls. Results The genotypes of AA, AG and GG were detected in rs2044456 and rs4953348 of AMS group and control group, but genotype and allele frequency of rs2044456 locus were not significantly different between AMS group and control group. The frequency of AG genotype in rs4953348 (OR = 0.453, 95% CI 0.226-0.908, P = 0.026). The frequency of allele A in AMS group was significantly lower than that in control group (25.0% vs 35.5%, P < OR = 0.607, 95% CI 0.377-0.975, P = 0.039). We compared the heart rate and oxygen saturation levels of different genotypes at each locus and found that there was a significant difference (P <0.05) in the oxygen saturation between the two loci and the genotype carriers. Conclusion The locus rs4953348 polymorphism is associated with the susceptibility to mAMS. The risk of AMS in the AG genotype may be lower than that in the GG genotype, while the A allele may be the protective factor of mAMS. Different genotypes had a strong correlation with oxygen saturation (P <0.05).