{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:36:44Z","timestamp":1782779804717,"version":"3.54.5"},"reference-count":40,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T00:00:00Z","timestamp":1586217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Elevated oxidative stress plays a significant role in pathophysiology of keratoconus (KC). Polymorphisms of the antioxidant enzymes as CAT and GPX\u20101 might alter their antioxidant enzyme capacities leading to increase in the oxidative damage induced KC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>To analyze the impact of CAT rs7943316 A\/T and GPX\u20101 rs1050450 C\/T single nucleotide polymorphisms (SNPs) on the risk and severity of KC among a group of Egyptian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subject &amp; methods<\/jats:title><jats:p>CAT rs7943316 and GPX\u20101 rs1050450 SNPs were examined using polymerase chain reaction\u2010restriction fragment length polymorphism in 100 control subjects and 150 KC patients [50 patients (KC stages 1&amp;2), 50 patients (KC stage 3) and 50 patients (KC stage 4)].<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with TT genotype of CAT rs7943316 were at high risk of developing KC. T allele of GPX\u20101 rs1050450 was significantly associated with KC risk (P \u02c20.001). The frequency of CAT TT genotype and T allele was significantly higher among severe stages of KC compared to mild and moderate stages. GPX\u20101 T allele frequency was significantly higher among severe stages of KC compared to mild and moderate stages. A very significant decrease in the antioxidant enzyme activities was observed in association with these SNPs. Age of the patients, CAT and GPX\u20101 SNPs as well as their enzyme activities were independent predictors of KC severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study suggests that CAT (rs7943316) and GPX\u20101 (rs1050450) SNPs act as independent predictors for different grades of KC and that these SNPs might have a role in the pathogenesis of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3192","type":"journal-article","created":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T16:07:31Z","timestamp":1584979651000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The impact of catalase and glutathione peroxidase\u20101 genetic polymorphisms on their enzyme activities among Egyptian patients with keratoconus"],"prefix":"10.1002","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2241-1586","authenticated-orcid":false,"given":"Rehab 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