ATP结合盒转运蛋白A1多态性与汉族人群原发性开角型青光眼易感性的关联研究  

The association of ABCA1 polymorphism with susceptibility of primary open angle glaucoma

作　　者：蔡晖[1] 王永强[2] Cai Hui;Wang Yongqiang(Department of Ophthalmology,Huangshi Second Hospital,Huangshi,Hubei 435000;Department of Ophthalmology,General Hospital of Jinan Military Region,Jinan,Shandong 250031,China)

机构地区：[1]湖北省黄石市第二医院眼科,435000 [2]济南军区总医院眼科

出　　处：《临床眼科杂志》2018年第3期224-226,共3页Journal of Clinical Ophthalmology

摘　　要：目的分析ATP结合盒转运蛋白A1(ABCA1)基因多态性与原发性开角型青光眼(POAG)易感性的关系。方法选取本院100例POAG患者(实验组)与100例正常健康人(对照组),采集静脉血并提取血液DNA,使用聚合酶链反应(PCR)和DNA测序检测ABCA1基因rs363717和rs914545位点多态性,并比较不同基因型与POAG患病风险的关系。结果两组中ABCA1基因在rs363717和rs914545位点的基因型分布符合哈迪-温伯格定律。rs363717位点中,两组的基因型频率分布无统计学差异(P>0.05),但等位基因频率分布具有统计学差异(P<0.05)。rs914545位点中,两组的基因型频率及等位基因频率分均有统计学差异(P<0.05)。两组中ABCA1基因多态性单倍型分析发现,CGT单倍型携带者患POAG的风险较大。结论 ABCA1基因多态性与POAG的患病风险存在一定的关联,CGT单倍型携带者患POAG的风险较大,其中rs914545位点基因平衡可能是患病风险增加的主要原因。Objective To analyze the relationship between ABCA1 polymorphism and susceptibility of primary open angle glaucoma(POAG).Methods 100 cases of POAG patients(experimental group)and 100 cases of healthy people were enrolled in our hospital.Venous blood was collected and extracted for DNA.The rs363717 and rs914545 polymorphism of ABCA1 were detected by polymerase chain reaction(PCR)and Sanger sequencing.Results The locus site of rs363717 and rs914545 in the two groups were in line with Hardy-Weinberg law.The difference in genotype frequencies between the two groups was not significant in rs363717 site(P>0.05),whereas the difference in allele frequencies was significant(P<0.05).The difference of genotype and allele frequencies between the two groups were significant in rs914545 site.CGT haplotype carrier people appeared to have higher risk of POAG by haplotype analysis.Conclusions There is certain relationship between ABCA1 polymorphism and risk of POAG.CGT haplotype carrier people appear to have higher risk of POAG,and rs3758078 locus site balance may be related to the increased risk.

关 键 词：原发性开角型青光眼 ABCA1 多态性 关联 

分 类 号：R775.2[医药卫生—眼科]