摘要
目的探讨rs10932688、rs12655827、rs2017869、rs4572038、rs4984295、rs11581271、rs17052028、rs3009568、rs4906864多态性位点与HAPE相关关系。方法采用病例对照研究,选取汉族HAPE患者135例,汉族健康对照者137例。采用改良多重高温连接酶检测法检测rs10932688、rs12655827、rs2017869、rs4572038、rs4984295、rs11581271、rs17052028、rs3009568、rs4906864单核苷酸位点的多态性并行相关分析。结果 rs10932688、rs12655827、rs2017869、rs4572038、rs4984295、rs11581271、rs17052028、rs3009568的基因型频率在HAPE组和对照组之间差异均无统计学意义。rs4906864的基因型TT在HAPE组（14.8%）和对照组（0.08%）间差异有显著性（P〈0.05）,odds ratio为0.425（0.187-0.966）;等位基因T在HAPE组（38.5%）和对照组（29.9%）间差异有显著性（P〈0.05）,odds ratio为0.682（0.477-0.973）。结论 rs4906864的基因型TT和等位基因T在HAPE组和对照组间差异有显著性,可能与HAPE病理生理过程相关。
Objective To investigate the relationships between 9 SNP loci,namely the rs10932688,rs12655827,rs2017869,rs4572038,rs4984295,rs11581271,rs17052028,rs3009568 and rs4906864 polymorphisms and the susceptibility to high altitude pulmonary edema（ HAPE） in Han Chinese. Methods The rs10932688,rs12655827,rs2017869,rs4572038,rs4984295,rs11581271,rs17052028,rs3009568 and rs4906864 polymorphisms were genotyped by improved multiple ligase detection reaction（ iMLDR） in 135 Han- Chinese HAPE patients and137 Han- Chinese Healthy people as control. Results There was no significant difference in the Genotypic and Allelic frequencies of those SNPs between HAPE patients and Health Controls（ P〈0. 05） except rs4906864. The genotype TT of rs4906864 were significantly more prevalent among the HAPE group（ 14. 8%） than the Control group（ 0.08%）（ P〈 0.05） with the odds ratio 0.425（ 0.187 -0.966）. The T allele were also significantly more prevalent among the HAPE group（ 38. 5%） than the Control group（ 29. 9%,P〈 0. 05） with the odds ratio 0. 682（ 0. 477- 0. 973）. Conclusions The results suggested that the genotype and allelic frequencies of rs4906864 may associated with the pathophysiology process of HAPE.
出处
《青海医学院学报》
CAS
2014年第3期153-159,共7页
Journal of Qinghai Medical College
基金
国家自然科学基金项目(31160232)
国家重点基础研究发展规划项目(2012CB518200)
国际科技合作与交流项目(2011DFA32720)
青海省重点实验室发展专项(2014-Z-Y-30
2014-Z-Y-07)
青海省高原医学应用基础重点实验室项目(2013-Z-Y05)
关键词
HAPE
EGLN1
单核苷酸多态性
high altitude pulmonary edema Single nucleotide polymorphism Association
