低氧诱导因子1α基因rs11549465多态性与山西省汉族人群阻塞性睡眠呼吸暂停低通气综合征易感性的关系研究

Relationship between HIF-1αgene rs11549465 polymorphism and susceptibility of OSAHS in Han ethnic group in Shanxi Province

目的探讨低氧诱导因子(HIF)-1α基因rs11549465单核苷酸多态性与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)易感性的关系。方法利用生物信息学工具对HIF-1α基因进行基础研究,获得这个基因的基本生物学信息。选择经多导睡眠图诊断为OSAHS患者131例。选择129例无打鼾、睡眠呼吸史和日间嗜睡症状,性别、年龄与OSAHS患者相似的受试者作为对照组。在ABI3730 DNA分析平台上进行测序,以确定rs11549465的基因型。结果HIF-1α基因存在单核苷酸多态性rs11549465。在携带TT基因型的候选者中,OSAHS患病风险增加。结论HIF-1α基因rs11549465单核苷酸多态性可能是评价OSAHS易感性的重要分子标记。

Objective To investigate the relationship between HIF-1αgene rs11549465,single nucleotide polymorphism and susceptibility of OSAHS.Methods Basic research on HIF-1αgenes was carried out by using bioinformatics tools to obtain basic biological information of the two genes.One hundred and thirty-one patients who were diagnosed as having OSAHS by PSG were selected in this study.129 subjects without evidence of snoring,sleep breath history and daytime sleepiness with their sex and age similar to OSAHS patients were selected as controls.Sequencing was carried out on the ABI 3730 DNA analysis platforms to determine the genotypes of rs11549465.Results Single nucleotide polymorphism rs11549465 was found in the HIF-1αgene.Risk of OSAHS prevalence increased in candidates carrying the TT genotype.Conclusion rs11549465 single nucleotide polymorphism may be important molecule marker for evaluating susceptibility of OSAHS.