摘要
目的探讨内皮PAS蛋白1（EPAS1）基因rs6756667、rs7583392多态性与汉族男性人群高原红细胞增多症（HAPC）的相关性。方法选择HAPC患者318例（HAPC组）与高原同期汉族男性健康对照316例（对照组），采用PCR．HRM分析方法检测EVAS1基因rs6756667及rs7583392多态性位点基因型。搜集人类单倍体计划数据库中北京汉族人群和既往文献中藏族人群的基因多态性数据，与本研究数据进行比较。结果rs6756667及rs7583392存在AA、AG、GG基因型。rs6756667的这三种基因型在HAPC组和对照组中的频率分别为1．9％、16．0％、82．1％和3．2％、22．8％、74．0％，差异有统计学意义（P=0．049），其中GG基因型频率在HAPC组显著高于对照组（p=o．025），而A等位基因频率与G等位基因频率在HAPC组和对照组间的分布有显著差异（P=0．011，OR=0．645，95％CI0．459～0．908）。rs7583392三种基因型在HAPC组和对照组中的频率分别为77．7％、18．6％、3．7％和69．0％、24．0％、7．0％，但频率分布不满足Hardy-Weinberg平衡。与人类单倍体计划数据库中北京汉族人群的数据相比，HAPC组rs6756667基因型及等位基因频率分布无差异，但与既往文献中藏族人群相比差异有统计学意义（χ2=76．133，P〈0．0001）。结论EPAS1基因rs6756667多态性与汉族男性HAPC的发生存在相关性，A等位基因可能是HAPC的保护因素，而GG基因型可能是HAPC的危险因素。
Objective To investigate the correlation between rs6756667 and rs7583392 polymorphism of endothelial Per-Arnt-Sire domain protein 1 （EPAS 1） and high altitude polycythemia（HAPC） in male Han population. Methods A total of 318 individuals with HAPC and 316 male individuals without HAPC （controls） of Han population were enrolled in this study, and genotypes of rs6756667 and rs7583392 were identified by polymerase chain reaction-high resolution melting analysis method. Polymorphism data of this study were compared with that collected from Han males in Beijing in the International HapMap Project database and Tibetan population from previous literature. Results Genotypes ofAA, AG and GG were found in rs6756667 and rs7583392 polymorphism. The frequencies of the three genotypes of rs6756667 in HAPC group and control group were 1.9%, 16.0%, 82.1% and 3.2%, 22.8%, 74.0%, respectively. The distribution of genotypes showed significant difference between HAPC group and control group （P=0.049）, with frequency of GG genotype in HAPC group was markedly higher than that of control group （P=0.02S）. The frequencies of A allele and G allele were significantly different between HAPC group and control group （P=0.011, OR=0.645,95%CI=0.459-0.908）. The frequencies of the three genotypes of rs7583392 in HAPC group and control group were 77.7%, 18.6%, 3.7% and 69.0%, 24.0%, 7.0%, respectively, while the frequency distribution of rs7583392 did not match the Hardy-Weinberg equilibrium test. Compared with Han Chinese in Beijing, there was no significant difference in frequency distribution of genotypes or alleles of rs6756667 polymorphism in this study, while statistically significant significance was found as compared with Tibetan population as found from previous literature（χ2=76.133, P〈0.0001）. Conclusion Polymorphism of rs6756667 in EPAS1 is associated with the occurrence of HAPC in male Han population, the A allele may be a protective factor against HAPC, while the genotype of GG may be a risk factor of HAP
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2012年第12期1120-1124,共5页
Medical Journal of Chinese People's Liberation Army
基金
国家科技支撑计划(2009BAI85B01)
国家973项目(2012CB518201)~~
关键词
高原病
红细胞增多症
内皮PAS蛋白1
多态性
单核苷酸
altitude sickness
polycythemia
endothelial pas domain-containing protein 1
polymorphism, single nucleotide
