Analysis of SMOC2 gene variants in familial and non-familial primary open angle glaucoma Pakistani patients.

IF 1.9 4区医学 Q2 OPHTHALMOLOGY International journal of ophthalmology Pub Date : 2024-12-18 eCollection Date: 2024-01-01 DOI:10.18240/ijo.2024.12.05

Ashok Kumar Narsani, Feriha Fatima Khidri, Muhammad Rafiq, Jalpa Bai, Hina Shaikh, Yar Muhammad Waryah, Syed Habib Ahmed Naqvi, Preety Kumari, Mahesh Kumar Lohano, Ali Muhammad Waryah

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Abstract

Aim: To find out the association of secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding 2 (SMOC2) gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma (POAG) patients.

Methods: A total of 212 POAG patients, comprising 124 familial and 88 non-familial, were enrolled. For genotyping the SMOC2 variant rs2255680, amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) method and PCR-restriction fragment length polymorphism (PCR-RFLP) were utilized for analyzing rs13208776 variant.

Results: The mean age of familial POAG patients was 50.92±9.12y, with 78 males and 46 females. The mean age of non-familial POAG patients was 53.14±13.44y, with 52 males and 36 females. The SMOC2 gene variant rs13208776 showed the significant association with POAG between familial and non-familial groups. The homozygous G/G variant was frequent among non-familial (60.2%) whereas the heterozygous G/A variant was more frequent in familial POAG patients (46%). There were significant differences in G/A variant between familial and non-familial glaucoma patients, and the risk was decreased to 0.53-fold in non-familial glaucoma patients [odds ratio (OR): 0.53; 95% confidence interval (CI): 0.29-0.94; P=0.033] in codominant model. The risk was further reduced to 0.49-fold (95%CI: 0.28-0.86; P=0.012) in dominant model for non-familial patients. No significant association of SMOC2 gene variant rs2255680 between familial and non-familial glaucoma patients was found in our population. The haplotype analysis showed the decreased risk for TA [OR: 0.48 (95%CI: 0.29-0.79); P=0.004] and an increased risk for TG [OR=2.28 (95%CI: 1.22-4.25); P=0.01] haplotypes.

Conclusion: Current findings show significant association of SMOC2 gene variant rs13208776 with POAG between familial and non-familial Pakistani patients.

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巴基斯坦家族性与非家族性原发性开角型青光眼SMOC2基因变异分析。

目的：探讨家族性和非家族性原发性开角型青光眼（POAG）患者分泌蛋白酸性和富含半胱氨酸（SPARC）相关的模块化钙结合2 （SMOC2）基因变异rs2255680和rs13208776与基因型和表型特征的关系。方法：共纳入212例POAG患者，其中家族性124例，非家族性88例。采用扩增难解突变系统(ARMS)-聚合酶链反应（PCR）法和限制性片段长度多态性（PCR- rflp）法对SMOC2变异rs2255680进行基因分型。结果：家族性POAG患者平均年龄为50.92±9.12y，其中男性78例，女性46例。非家族性POAG患者的平均年龄为53.14±13.44y，男性52例，女性36例。SMOC2基因变异rs13208776在家族性和非家族性人群中与POAG显著相关。纯合子G/G变异常见于非家族性POAG患者（60.2%），而杂合子G/A变异常见于家族性POAG患者（46%）。家族性和非家族性青光眼患者的G/A变异有显著性差异，非家族性青光眼患者的风险降低至0.53倍[优势比（OR）： 0.53；95%置信区间（CI）： 0.29-0.94；P=0.033]。风险进一步降低至0.49倍(95%CI: 0.28-0.86；P=0.012)。在我们的人群中没有发现家族性和非家族性青光眼患者与SMOC2基因变异rs2255680有显著关联。单倍型分析显示TA风险降低[OR: 0.48 (95%CI: 0.29-0.79)；P=0.004]和TG风险增加[OR=2.28 (95%CI: 1.22-4.25)；单P = 0.01)。结论：目前的研究结果表明，在家族性和非家族性巴基斯坦患者中，SMOC2基因变异rs13208776与POAG有显著相关性。

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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.

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