June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Association of variant rs12997 in ACVR1 involved in transforming growth factor-ß signaling pathway with primary open-angle glaucoma
Author Affiliations & Notes
  • Altaf A Kondkar
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Taif A Azad
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Tahira Sultan
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Essam A Osman
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Faisal Abdulaziz Almobarak
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Saleh A Al-Obeidan
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Footnotes
    Commercial Relationships   Altaf Kondkar, None; Taif Azad, None; Tahira Sultan, None; Essam Osman, None; Faisal Almobarak, None; Saleh Al-Obeidan, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 1249. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Altaf A Kondkar, Taif A Azad, Tahira Sultan, Essam A Osman, Faisal Abdulaziz Almobarak, Saleh A Al-Obeidan; Association of variant rs12997 in ACVR1 involved in transforming growth factor-ß signaling pathway with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci. 2020;61(7):1249.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : Transforming growth factor-β (TGF-β) may play a critical role in the pathogenesis of primary open-angle glaucoma (POAG). The study aimed to test the hypothesis that genetic variants in the genes involved in the TGF-β signaling pathway may also be associated with glaucoma. In a retrospective case-control study, we investigated variants rs12997 in ACVR1 (at chromosome 2q24.1) and rs1043784 in BMP6 (at chromosome 6p24.3) in POAG.

Methods : Genotyping was performed using TaqMan® real-time PCR assays in a total of 400 subjects including 150 POAG patients and 250 controls. Statistical analysis was done to determine the association of variants with POAG and clinical indices like intraocular pressure and cup/disc ratio using SNPStats online tool and SPSS version 22 (IBM Inc. Chicago, IL, USA).

Results : The rs12997 minor ‘G’ allele was significantly associated with the risk of POAG (p=0.027, odds ratio [OR]=1.39, 95% confidence interval [CI]=1.03-1.87). Likewise, rs12997 genotypes showed a significant association with POAG in recessive (p=0.048, OR=1.80, 95% CI=1.01-3.20) and log-additive models (p=0.030, OR=1.39, 95% CI=1.03-1.87), but not after adjustment for age and sex. Genotype and allele frequencies of rs1043784 were not significantly different between POAG cases and controls. Binary logistic regression analysis showed a significant trend of rs12997 G/G genotype towards POAG outcome (p=0.056) independent of age and sex, but the significance was lost (p=0.637) after inclusion of rs1043784 genotypes in the model. Both the variants showed no association with POAG phenotypes such as intraocular pressure and cup/disc ratio.

Conclusions : Our results suggest that the polymorphism rs12997 in the ACVR1 gene involved in the TGF-β signaling pathway is significantly associated with POAG, supporting the role of the TGF-β pathway in POAG pathogenesis. Further studies would be needed to validate these results.

This is a 2020 ARVO Annual Meeting abstract.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×