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The present study assessed the genetic association of -509C\u2009&gt;\u2009T variant in the <jats:italic>TGFB<\/jats:italic> promoter region with primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) in a North Indian Punjabi population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Method<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Result<\/jats:title>\n                <jats:p>A statistically significant difference in the frequency of heterozygotes among PACG cases (53.16%) and controls (30.07%) (<jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.0002)<\/jats:bold> was observed. Genetic model analysis revealed that mutant \u201cTT\u201d genotype conferred 2-fold risk towards PACG development under recessive model (<jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.0019)<\/jats:bold> while dominant model and co-dominant model provided 0.62 and 0.37 fold protection against PACG (<jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.025<\/jats:bold> and <jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.0001<\/jats:bold>, respectively). Data segregation based on sex revealed a strong protective effect of heterozygous \u2018CT\u2019 genotype against progression of PACG among females (<jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.002<\/jats:bold>, OR\u2009=\u20090.37, 95% CI\u2009=\u20090.19\u20130.70), but conferred 2.14-fold risk among female POAG subjects (<jats:bold><jats:italic>p<\/jats:italic><\/jats:bold>\u00a0<jats:bold>=\u20090.013)<\/jats:bold>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The study revealed a strong genetic association of -509C\u2009&gt;\u2009T variant in <jats:italic>TGFB<\/jats:italic> 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.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-021-01924-4","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T07:02:45Z","timestamp":1617865365000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association of TGFB -509C&gt;T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort"],"prefix":"10.1186","volume":"21","author":[{"given":"Nanamika","family":"Thakur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajeev Kumar","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashim","family":"Mannan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Archna","family":"Pruthi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjana","family":"Mehrotra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,8]]},"reference":[{"key":"1924_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.9734\/or\/2019\/v10i330106","volume":"10","author":"BC Umezurike","year":"2019","unstructured":"Umezurike BC, Akhimien MO, Udeala O, Green UG, Okpechi-Agbo U, Ohaeri MU. 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