Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population.

IF 1.9 4区医学 Q2 OPHTHALMOLOGY

International journal of ophthalmology Pub Date : 2025-05-18 eCollection Date: 2025-01-01 DOI:10.18240/ijo.2025.05.09

Asghar Shayannia, Kobra Foroughi, Mohammad Hassan Emamian, Hassan Hashemi, Akbar Fotouhi

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引用次数: 0

Abstract

Aim: To examine whether rs2472493 and rs248032 in the ABCA1 gene, rs3785176 in the PMM2 gene, and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma (POAG) in an Iranian population.

Methods: Totally 82 POAG patients and 172 healthy controls were enrolled. The selected gene polymorphisms were analyzed using TaqMan SNP Genotyping Assay using deoxyribonucleic acid (DNA) extracted from blood samples. Allelic and genotypic frequencies were evaluated using the Chi-square test. The association between the genotypes of single nucleotide polymorphisms (SNPs) and POAG was assessed using multiple logistic regression models. The linkage disequilibrium and haplotype block structure were assessed using the Haploview 4.2 software.

Results: The results showed a significant association between allele frequencies of rs2472493 in the ABCA1 gene locus and POAG [odds ratio (OR)=1.58, 95% confidence intervals (CI)=1.04-2.39, P=0.031]. The rs3785176 in the PMM2 gene was also associated with POAG in additive and over dominant genotypes. Moreover, haplotype analysis showed a significant association of two estimated haplotypes of rs2472493/rs2487032 with POAG. The AA haplotype showed a reduction in POAG risk (OR=0.41, 95%CI=0.202-0.834, P=0.012), while the GG haplotype was associated with the disease. In addition, this study could not discover any association between genotype and allele frequency of rs248032 in the ABCA1 gene, and rs11827818 in ARHGEF12 gene and POAG.

Conclusion: rs2472493 in the ABCA1 gene can be considered a genetic susceptibility locus for POAG. The haplotype constructed with ABCA1 gene SNPs (rs2472493/rs2487032) is associated with POAG.

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ABCA1、PMM2和ARHGEF12基因多态性变异与伊朗人群青光眼的风险

目的：探讨ABCA1基因中的rs2472493和rs248032、PMM2基因中的rs3785176和ARHGEF12基因中的rs11827818是否与伊朗人群原发性开角型青光眼（POAG）有关。方法：82例POAG患者和172例健康对照。选取的基因多态性采用TaqMan SNP基因分型分析，采用从血样中提取的脱氧核糖核酸（DNA）进行分析。采用卡方检验评估等位基因和基因型频率。采用多元逻辑回归模型评估单核苷酸多态性（snp）基因型与POAG之间的关系。采用Haploview 4.2软件进行连锁不平衡和单倍型块结构评估。结果：ABCA1基因位点rs2472493等位基因频率与POAG存在显著相关性[比值比(OR)=1.58, 95%可信区间(CI)=1.04 ~ 2.39， P=0.031]。PMM2基因中的rs3785176在加性和超显性基因型中也与POAG相关。此外，单倍型分析显示，rs2472493/rs2487032的两种估计单倍型与POAG显著相关。AA单倍型可降低POAG风险（OR=0.41, 95%CI=0.202 ~ 0.834， P=0.012），而GG单倍型与该病相关。此外，本研究未发现ABCA1基因rs248032、ARHGEF12基因rs11827818的基因型和等位基因频率与POAG存在关联。结论：ABCA1基因rs2472493可能是POAG的遗传易感位点。ABCA1基因snp构建的单倍型（rs2472493/rs2487032）与POAG相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International journal of ophthalmology Medicine-Ophthalmology

CiteScore

2.50

自引率

7.10%

发文量

3141

审稿时长

4-8 weeks

期刊介绍： · International Journal of Ophthalmology-IJO (English edition) is a global ophthalmological scientific publication and a peer-reviewed open access periodical (ISSN 2222-3959 print, ISSN 2227-4898 online). This journal is sponsored by Chinese Medical Association Xi’an Branch and obtains guidance and support from WHO and ICO (International Council of Ophthalmology). It has been indexed in SCIE, PubMed, PubMed-Central, Chemical Abstracts, Scopus, EMBASE , and DOAJ. IJO JCR IF in 2017 is 1.166. IJO was established in 2008, with editorial office in Xi’an, China. It is a monthly publication. General Scientific Advisors include Prof. Hugh Taylor (President of ICO); Prof.Bruce Spivey (Immediate Past President of ICO); Prof.Mark Tso (Ex-Vice President of ICO) and Prof.Daiming Fan (Academician and Vice President, Chinese Academy of Engineering. International Scientific Advisors include Prof. Serge Resnikoff (WHO Senior Speciatist for Prevention of blindness), Prof. Chi-Chao Chan (National Eye Institute, USA) and Prof. Richard L Abbott (Ex-President of AAO/PAAO) et al. Honorary Editors-in-Chief: Prof. Li-Xin Xie(Academician of Chinese Academy of Engineering/Honorary President of Chinese Ophthalmological Society); Prof. Dennis Lam (President of APAO) and Prof. Xiao-Xin Li (Ex-President of Chinese Ophthalmological Society). Chief Editor: Prof. Xiu-Wen Hu (President of IJO Press). Editors-in-Chief: Prof. Yan-Nian Hui (Ex-Director, Eye Institute of Chinese PLA) and Prof. George Chiou (Founding chief editor of Journal of Ocular Pharmacology & Therapeutics). Associate Editors-in-Chief include: Prof. Ning-Li Wang (President Elect of APAO); Prof. Ke Yao (President of Chinese Ophthalmological Society) ; Prof.William Smiddy (Bascom Palmer Eye instituteUSA) ; Prof.Joel Schuman (President of Association of University Professors of Ophthalmology,USA); Prof.Yizhi Liu (Vice President of Chinese Ophtlalmology Society); Prof.Yu-Sheng Wang (Director of Eye Institute of Chinese PLA); Prof.Ling-Yun Cheng (Director of Ocular Pharmacology, Shiley Eye Center, USA). IJO accepts contributions in English from all over the world. It includes mainly original articles and review articles, both basic and clinical papers. Instruction is Welcome Contribution is Welcome Citation is Welcome Cooperation organization International Council of Ophthalmology(ICO), PubMed, PMC, American Academy of Ophthalmology, Asia-Pacific, Thomson Reuters, The Charlesworth Group, Crossref,Scopus,Publons, DOAJ etc.