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European journal of molecular biology and biochemistry

Volume 12, Issue 1, 2025
Mcmed International
European journal of molecular biology and biochemistry
Issn
2348 - 2192 (Print), 2348 - 2206 (Online)
Frequency
bi-annual
Email
editorejmbb@mcmed.us
Journal Home page
http://mcmed.us/journal/ejmbb
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Abstract
Title
POLYMORPHISM RS12997 IN THE 3’ UNTRANSLATED REGION OF ACTIVIN A RECEPTOR TYPE 1 GENE IS ASSOCIATED WITH NORMAL-TENSION GLAUCOMA
Author
Altaf A. Kondkar123*, Tahira Sultan1, Taif A. Azad1, Saleh A. Al-Obeidan
Email
akondkar@gmail.com
keyword
ACVR1, BMP6, genetics, glaucoma, Saudi Arabs.
Abstract
Aim of the study: To determine association of rs12997 (A>G) and rs1043784 (T>C) located in the 3’untranslated region (UTR) region of ACVR1 and BMP6 genes, respectively, in normal-tension glaucoma (NTG) patients of Saudi origin. Materials and Methods: In a case-control study, rs12997 and rs1043784 genotyping was performed in 250 non-glaucoma controls and 102 NTG patients using the TaqMan real-time PCR assays. Statistical analysis was performed to evaluate any allelic/genotype association of polymorphisms with the disease or its related clinical markers. Results: Rs12997[G] allele frequency was significantly (p=0.035) higher in cases (0.42) than controls (0.33). The rs12997 genotypes showed significant association with NTG in co-dominant, recessive, and log-additive models. The rs12997 G/G genotype exhibited a significant two-fold increased risk of NTG independent of age, sex, and rs1043784 genotype in binary logistic regression analysis (odds ratio=2.12, 95% confidence interval=1.05–4.25, p=0.034). Rs1043784 polymorphism showed no significant association with NTG. Both the polymorphisms showed no association with intraocular pressure, cup/disc ratio, and number of antiglaucoma medications. Conclusion: Rs12997 polymorphism in the 3’UTR region of ACVR1 is significantly associated with NTG in a Saudi cohort. However, further studies are needed in a large population-based cohort, potentially with age and gendermatched controls, and in different ethnicities to validate these findings
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