Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin
ObjectiveTo investigate the association of specific genetic polymorphisms (rs2371597 in STON2, rs11720822 in PDIA5, rs387907358 in WNT1, and rs77542162 in ABCA6) in a Saudi cohort of keratoconus (KC) patients compared to controls.MethodsA retrospective case-control genetic association study was cond...
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1505629/full |
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| author | Altaf A. Kondkar Altaf A. Kondkar Altaf A. Kondkar Tahira Sultan Taif A. Azad Tanvir Khatlani Glenn P. Lobo Hatem Kalantan Saleh A. Al-Obeidan Saleh A. Al-Obeidan Abdulrahman M. Al-Muammar |
| author_facet | Altaf A. Kondkar Altaf A. Kondkar Altaf A. Kondkar Tahira Sultan Taif A. Azad Tanvir Khatlani Glenn P. Lobo Hatem Kalantan Saleh A. Al-Obeidan Saleh A. Al-Obeidan Abdulrahman M. Al-Muammar |
| author_sort | Altaf A. Kondkar |
| collection | DOAJ |
| description | ObjectiveTo investigate the association of specific genetic polymorphisms (rs2371597 in STON2, rs11720822 in PDIA5, rs387907358 in WNT1, and rs77542162 in ABCA6) in a Saudi cohort of keratoconus (KC) patients compared to controls.MethodsA retrospective case-control genetic association study was conducted. The study included 99 KC patients and 193 healthy controls. Genotyping was performed using real-time PCR with TaqMan assays. Associations between genetic polymorphisms and KC were assessed using various genetic models and binary logistic regression analysis.ResultsNone of the tested polymorphisms showed an overall association with KC risk. Specifically, the rs2371597 polymorphism in STON2 did not demonstrate a significant association with KC risk across different genetic models. However, a gender-specific effect of rs2371597 was noted: in men, the C/G genotype was associated with a higher risk of KC, particularly in the dominant model, while no significant association was observed in women. Age and sex were identified as significant predictors of KC risk, but rs2371597 did not significantly affect KC risk in regression analysis.ConclusionPreliminary evidence suggests a gender-specific effect of the rs2371597 polymorphism in STON2, with an increased KC risk associated with C/G-C/C genotypes in men which was age-dependent. This result highlights the importance of considering population-specific genetic factors and the potential gender-specific effects on KC susceptibility. However, these findings need further validation with larger age- and sex-matched samples of diverse populations. |
| format | Article |
| id | doaj-art-a1d8a0d5c3574ffc89a6ccdd16b2ed48 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-a1d8a0d5c3574ffc89a6ccdd16b2ed482024-12-09T06:28:41ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-12-011510.3389/fgene.2024.15056291505629Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi originAltaf A. Kondkar0Altaf A. Kondkar1Altaf A. Kondkar2Tahira Sultan3Taif A. Azad4Tanvir Khatlani5Glenn P. Lobo6Hatem Kalantan7Saleh A. Al-Obeidan8Saleh A. Al-Obeidan9Abdulrahman M. Al-Muammar10Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaGlaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaKing Saud University Medical City, King Saud University, Riyadh, Saudi ArabiaDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaDepartment of Blood and Cancer Research, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University of Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaDepartment of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, United StatesDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaGlaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaObjectiveTo investigate the association of specific genetic polymorphisms (rs2371597 in STON2, rs11720822 in PDIA5, rs387907358 in WNT1, and rs77542162 in ABCA6) in a Saudi cohort of keratoconus (KC) patients compared to controls.MethodsA retrospective case-control genetic association study was conducted. The study included 99 KC patients and 193 healthy controls. Genotyping was performed using real-time PCR with TaqMan assays. Associations between genetic polymorphisms and KC were assessed using various genetic models and binary logistic regression analysis.ResultsNone of the tested polymorphisms showed an overall association with KC risk. Specifically, the rs2371597 polymorphism in STON2 did not demonstrate a significant association with KC risk across different genetic models. However, a gender-specific effect of rs2371597 was noted: in men, the C/G genotype was associated with a higher risk of KC, particularly in the dominant model, while no significant association was observed in women. Age and sex were identified as significant predictors of KC risk, but rs2371597 did not significantly affect KC risk in regression analysis.ConclusionPreliminary evidence suggests a gender-specific effect of the rs2371597 polymorphism in STON2, with an increased KC risk associated with C/G-C/C genotypes in men which was age-dependent. This result highlights the importance of considering population-specific genetic factors and the potential gender-specific effects on KC susceptibility. However, these findings need further validation with larger age- and sex-matched samples of diverse populations.https://www.frontiersin.org/articles/10.3389/fgene.2024.1505629/fullcase-control studygender differencesgenetic polymorphismskeratoconusSTON2PDIA5 |
| spellingShingle | Altaf A. Kondkar Altaf A. Kondkar Altaf A. Kondkar Tahira Sultan Taif A. Azad Tanvir Khatlani Glenn P. Lobo Hatem Kalantan Saleh A. Al-Obeidan Saleh A. Al-Obeidan Abdulrahman M. Al-Muammar Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin Frontiers in Genetics case-control study gender differences genetic polymorphisms keratoconus STON2 PDIA5 |
| title | Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin |
| title_full | Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin |
| title_fullStr | Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin |
| title_full_unstemmed | Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin |
| title_short | Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin |
| title_sort | gender specific association of ston2 rs2371597 polymorphism in keratoconus patients of saudi origin |
| topic | case-control study gender differences genetic polymorphisms keratoconus STON2 PDIA5 |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1505629/full |
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