ABCA1、ABCC5基因单核苷酸多态性与原发性闭角型青光眼的关系  

Relationship between single nucleotide polymorphisms of ABCA1 and ABCC5 genes and primary angle-closure glaucoma

作　　者：李红月 辛晓蓉[2] LI Hong-yue;XIN Xiao-rong(Department of Ophthalmology,Qinghai Renji Hospital,Xining 810000,China;Department of Ophthalmology,Qinghai Red Cross Hospital,Xining 810000,China)

机构地区：[1]青海仁济医院眼科,西宁市810000 [2]青海红十字医院眼科,西宁市810000

出　　处：《广西医学》2020年第4期381-385,共5页Guangxi Medical Journal

基　　金：国家自然科学基金(81460086)。

摘　　要：目的分析三磷酸腺苷结合盒转运子A1(ABCA1)、三磷酸腺苷结合盒转运子C5(ABCC5)基因单核苷酸多态性(SNP)与原发性闭角型青光眼(PACG)的相关性。方法选取96例PACG患者为研究组,72例单纯白内障患者为对照组。检测两组患者眼部参数,以及外周血ABCA1基因rs914545位点及ABCC5基因rs1401999位点基因分型。采用Logistic回归模型分析PACG发病的影响因素。结果研究组的前房深度、前房容积、最佳矫正视力、中央前房深度低于对照组,而眼压高于对照组(均P<0.05)。研究组ABCA1基因rs914545位点TT基因型和T等位基因的频率,以及ABCC5基因rs1401999位点GG基因型和G等位基因的频率均高于对照组(均P<0.05)。Logistic回归分析显示,ABCA1基因rs914545位点TT基因型及ABCC5基因rs1401999位点GG基因型均是PACG发病的危险因素(均P<0.05)。结论ABCA1、ABCC5基因多态性与PACG发病有关,携带ABCA1基因rs914545位点TT基因型及ABCC5基因rs1401999位点GG基因型者发生PACG的风险更大。Objective To analyze the correlation between single nucleotide polymorphisms(SNPs)of adenosine triphosphate-binding cassette transporter A1(ABCA1)and adenosine triphosphate-binding cassette transporter C5(ABCC5)genes and primary angle-closure glaucoma(PACG).Methods Ninety-six PACG patients were selected as study group and 72 patients with simple cataract as control group.The eye parameters of the patients in the two groups were measured,and the genotypes of peripheral blood ABCA1 locus rs914545 and ABCC5 locus rs1401999 were detected as well.Logistic regression model was used to analyze the influencing factors of developing PACG.Results The study group had lower anterior chamber depth,anterior chamber volume,best corrected visual acuity and central anterior chamber depth,as well as higher intraocular pressure than the control group(all P<0.05).The study group reported higher frequencies of genotype TT and allele T at ABCA1 locus rs914545,along with higher frequencies of genotype GG and allele G at ABCC5 locus rs1401999,in comparison with the control group(all P<0.05).Logistic regression analysis revealed that genotype TT at ABCA1 locus rs914545 and genotype GG at ABCC5 locus rs1401999 were the risk factors for developing PACG(all P>0.05).Conclusion The polymorphisms of ABCA1 and ABCC5 genes are related to the pathogenesis of PACG.Higher risk of developing PACG is observed in individuals carrying genotype TT at ABCA1 locus rs914545 or genotype GG at ABCC5 locus rs1401999.

关 键 词：原发性闭角型青光眼 三磷酸腺苷结合盒转运子A1 三磷酸腺苷结合盒转运子C5 单核苷酸多态性 发病风险 

分 类 号：R775.2[医药卫生—眼科]