Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort
Abstract Purpose Transforming growth factor beta (TGFB) is an important candidate gene implicated in glaucoma pathogenesis because it affects retinal ganglionic cell survival. The present study assessed the genetic association of -509C > T variant in the TGFB promoter region with primary open ang...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-04-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-021-01924-4 |
| _version_ | 1818326981583831040 |
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| author | Nanamika Thakur Rajeev Kumar Pandey Rashim Mannan Archna Pruthi Sanjana Mehrotra |
| author_facet | Nanamika Thakur Rajeev Kumar Pandey Rashim Mannan Archna Pruthi Sanjana Mehrotra |
| author_sort | Nanamika Thakur |
| collection | DOAJ |
| description | Abstract Purpose Transforming growth factor beta (TGFB) is an important candidate gene implicated in glaucoma pathogenesis because it affects retinal ganglionic cell survival. The present study assessed the genetic association of -509C > T variant in the TGFB promoter region with primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) in a North Indian Punjabi population. Method A total of 867 subjects (307 POAG, 133 PACG cases and 427 controls) were recruited from the targeted population. Genotyping was done by PCR-RFLP method and the data was analyzed using PLINK software (v1.07). Logistic regression under different genetic models was applied and genotype phenotype correlation was assessed by one-way ANOVA. Result A statistically significant difference in the frequency of heterozygotes among PACG cases (53.16%) and controls (30.07%) (p = 0.0002) was observed. Genetic model analysis revealed that mutant “TT” genotype conferred 2-fold risk towards PACG development under recessive model (p = 0.0019) while dominant model and co-dominant model provided 0.62 and 0.37 fold protection against PACG (p = 0.025 and p = 0.0001, respectively). Data segregation based on sex revealed a strong protective effect of heterozygous ‘CT’ genotype against progression of PACG among females (p = 0.002, OR = 0.37, 95% CI = 0.19–0.70), but conferred 2.14-fold risk among female POAG subjects (p = 0.013). Conclusion The study revealed a strong genetic association of -509C > T variant in TGFB with PACG in females. There is a need to replicate the results in a larger PACG cohort in other populations and further assess the contribution of sex specific factors in modifying genetic susceptibility to PACG. |
| first_indexed | 2024-12-13T12:09:01Z |
| format | Article |
| id | doaj.art-11631bfa746e44da894791dd59a9dde7 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-13T12:09:01Z |
| publishDate | 2021-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-11631bfa746e44da894791dd59a9dde72022-12-21T23:46:52ZengBMCBMC Ophthalmology1471-24152021-04-012111810.1186/s12886-021-01924-4Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohortNanamika Thakur0Rajeev Kumar Pandey1Rashim Mannan2Archna Pruthi3Sanjana Mehrotra4Department of Human Genetics, Guru Nanak Dev UniversityThermo Fisher ScientificAll India Institute of Medical SciencesAll India Institute of Medical SciencesDepartment of Human Genetics, Guru Nanak Dev UniversityAbstract Purpose Transforming growth factor beta (TGFB) is an important candidate gene implicated in glaucoma pathogenesis because it affects retinal ganglionic cell survival. The present study assessed the genetic association of -509C > T variant in the TGFB promoter region with primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) in a North Indian Punjabi population. Method A total of 867 subjects (307 POAG, 133 PACG cases and 427 controls) were recruited from the targeted population. Genotyping was done by PCR-RFLP method and the data was analyzed using PLINK software (v1.07). Logistic regression under different genetic models was applied and genotype phenotype correlation was assessed by one-way ANOVA. Result A statistically significant difference in the frequency of heterozygotes among PACG cases (53.16%) and controls (30.07%) (p = 0.0002) was observed. Genetic model analysis revealed that mutant “TT” genotype conferred 2-fold risk towards PACG development under recessive model (p = 0.0019) while dominant model and co-dominant model provided 0.62 and 0.37 fold protection against PACG (p = 0.025 and p = 0.0001, respectively). Data segregation based on sex revealed a strong protective effect of heterozygous ‘CT’ genotype against progression of PACG among females (p = 0.002, OR = 0.37, 95% CI = 0.19–0.70), but conferred 2.14-fold risk among female POAG subjects (p = 0.013). Conclusion The study revealed a strong genetic association of -509C > T variant in TGFB with PACG in females. There is a need to replicate the results in a larger PACG cohort in other populations and further assess the contribution of sex specific factors in modifying genetic susceptibility to PACG.https://doi.org/10.1186/s12886-021-01924-4Primary glaucomaCase-control studyGenetic association studyTGFB -509C > TPolymorphismNeurodegeneration |
| spellingShingle | Nanamika Thakur Rajeev Kumar Pandey Rashim Mannan Archna Pruthi Sanjana Mehrotra Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort BMC Ophthalmology Primary glaucoma Case-control study Genetic association study TGFB -509C > T Polymorphism Neurodegeneration |
| title | Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort |
| title_full | Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort |
| title_fullStr | Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort |
| title_full_unstemmed | Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort |
| title_short | Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort |
| title_sort | association of tgfb 509c t promoter polymorphism with primary angle closure glaucoma in a north indian punjabi cohort |
| topic | Primary glaucoma Case-control study Genetic association study TGFB -509C > T Polymorphism Neurodegeneration |
| url | https://doi.org/10.1186/s12886-021-01924-4 |
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