ABCA3基因多态性与新生儿呼吸窘迫综合征易感性关系研究

Relationship between ABCA3 gene polymorphisms and genetic susceptibility of neonatal respiratory distress syndrome

目的探讨ATP结合盒转运蛋白A3基因(ABCA3)rs13332514(C.1059G/A)、rs117515055(C.213C/T)两个多态性位点与陕西汉族人群新生儿呼吸窘迫综合征(NRDS)的遗传易感性。方法用SNaPshot多重微测序技术检测60例陕西汉族NRDS患者和120名健康对照者ABCA3基因rs13332514(C.1059G/A)、rs117515055(C.213C/T)两个多态性位点。结果rs117515055位点有两种基因型,对其进行比较,发现T等位基因在病例组(5.1%)高于对照组(3.1%),但是差异无统计学意义;rs13332514位点CC基因型频率及C等位基因频率在病例组高于对照组(50.8%vs44.1%,69.5%vs63.5%),差异亦无统计学意义。结论 rs117515055位点的T等位基因及rs13332514位点的C等位基因可能与汉族人群的NRDS有关,还需扩大样本量做进一步研究。

Objective To study the relationship between rs13332514（C.1059G/A）and rs117515055（C.213C/T）） polymorphisms of ABCA3 and genetic susceptibility of neonatal respiratory distress syndrome （ NRDS） in Shaanxi Han nationality .Methods Polymorphisms of two sites （C.1059G/A, C.213C/T） in ABCA3 gene （rs13332514, rs117515055） were genotyped in 60 NRDS patients in Shaanxi Han nationality and in 120 healthy controls by Snapshot multiplex minisequencing technology .Results There were two genotypes in rs 117515055 site, with higher percentage of T allele in the case group （5.1%） than in the control group （3.1%）, but the difference was not statistically significant .CC genotype frequency and C allele frequency at rs 13332514 site in case group were higher than in control group （50.8%vs 44.1%, 69.5%vs 63.5%）, but the differences were not significant .Conclusion The T allele at rs117515055 site and C allele at rs13332514 site may be associated with NRDS of the Han population , but further studies are needed to be conducted with large samples.