{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:38:20Z","timestamp":1767983900585,"version":"3.49.0"},"reference-count":0,"publisher":"Press of International Journal of Ophthalmology (IJO Press)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Ophthalmol"],"published-print":{"date-parts":[[2024,12,18]]},"abstract":"<jats:p>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.\nMETHODS: 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.\nRESULTS: The mean age of familial POAG patients was 50.92\u00b19.12y, with 78 males and 46 females. The mean age of non-familial POAG patients was 53.14\u00b113.44y, 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.\nCONCLUSION: Current findings show significant association of SMOC2 gene variant rs13208776 with POAG between familial and non-familial Pakistani patients.<\/jats:p>","DOI":"10.18240\/ijo.2024.12.05","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T03:11:37Z","timestamp":1731985897000},"page":"2185-2191","source":"Crossref","is-referenced-by-count":2,"title":["Analysis of SMOC2 gene variants in familial and non-familial primary open angle glaucoma Pakistani patients"],"prefix":"10.18240","volume":"17","author":[{"name":"Institute of Biotechnology &#x0026; Genetic Engineering, University of Sindh, Jamshoro 76090, Pakistan; Institute of Ophthalmology, Liaquat University of Medical and Health Sciences Jamshoro, Jamshoro 76090, Pakistan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashok Kumar","family":"Narsani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Rafiq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biotechnology &#x0026; Genetic Engineering, University of Sindh, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jalpa","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hina","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yar Muhammad","family":"Waryah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Sindh Institute of Ophthalmology &#x0026; Visual Sciences Hyderabad, Sindh 71000, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Habib Ahmed","family":"Naqvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biotechnology &#x0026; Genetic Engineering, University of Sindh, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preety","family":"Kumari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Department of Bio Sciences, COMSATS University Islamabad 45550, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahesh Kumar","family":"Lohano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Muhammad","family":"Waryah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7543","container-title":["International Journal of Ophthalmology"],"original-title":[],"link":[{"URL":"http:\/\/ies.ijo.cn\/en_publish\/2024\/12\/20241205.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T03:11:42Z","timestamp":1731985902000},"score":1,"resource":{"primary":{"URL":"http:\/\/ies.ijo.cn\/gjyken\/ch\/reader\/view_abstract.aspx?file_no=20241205&flag=1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,18]]},"references-count":0,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12,18]]}},"URL":"https:\/\/doi.org\/10.18240\/ijo.2024.12.05","relation":{},"ISSN":["2222-3959","2227-4898"],"issn-type":[{"value":"2222-3959","type":"print"},{"value":"2227-4898","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,18]]}}}