Superoxide Dismutase (SOD1) Gene Polymorphism in Cataract Patients of Karachi, Pakistan

Authors

  • Atif Mahmood Department of Physiology, Bhitai Dental and Medical College, Mirpurkhas, Pakistan.
  • Qamer Aziz Department of Physiology, Baqai Medical University, Karachi, Pakistan.
  • Ruqaya Nangrejo Department of Physiology, Baqai Medical University, Karachi, Pakistan
  • Iftikhar Ahmed Department of Biochemistry, Baqai Medical University, Karachi, Pakistan
  • Saleh Soomro Department of Physiology, Baqai Medical University, Karachi, Pakistan
  • Iffat Ara Department of Biochemistry, Baqai Medical University, Karachi, Pakistan

Keywords:

Cataract, Polymerase Chain Reaction, Polymorphism, Reactive Oxygen Species, Superoxide Dismutase, Single Nucleotide.

Abstract

Objective: To investigate the polymorphism superoxide dismutase (SOD1) gene and its relationship with the development of cataracts in patients of Karachi.
Methods: This was a case-control study carried out at different centers in Karachi, Pakistan between September 2019 and 2020. A single nucleotide polymorphism (SNP) at rs2070424(SOD1) locus was examined with polymerase chain reaction (PCR) using high resolution melting curve (HRM) technique in 250 cataract patients and 250 healthy control groups of similar age and gender.
Results: Of 500 subjects, there were 250 cases and 250 controls. The mean age of the cataract patients (cases) was 43.97± 13.36 years. Among cases, 150 (60.0%) were males and 100 (40.0%) were females whereas in controls, 127 were males (50.8%) and 123 (49.2%) were females. A significant association of cataract was found with age (p value = 0.005), and smoking (p-value = 0.001). AG genotype has a smaller risk (OR=1.77, 95% CI 1.11 – 2.66, p-value= 0.006) associated with cataract while GG has a higher risk (OR = 2.83, 95% CI 1.71 – 4.68, p-value < 0.001). Further, calculation of allelic distribution revealed that the G allele was more prevalent in the cataract group 200 (61.7%) as compared to controls 124 (38.3%) (p-value=0.001).

Conclusion: The significantly higher G allele frequency in the SOD1 gene at the rs2070424(SOD1) locus in the cataract group indicates that potential risk factors contribute to cataracts' development. This study contributes to the genetic profiling of cataract patients in the Pakistani population.

Downloads

Download data is not yet available.

References

Bourne R, Steinmetz JD, Flaxman S, Briant PS, Taylor HR, Resnikoff S, et al. Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study. Lancet Global Health 2021; 9:e130-43.

doi: 10.1016/S2214-109X(20)30425-3

Steinmetz JD, Bourne RR, Briant PS. GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study. Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study. Lancet Glob Health 2021; 9:e144-60. doi: 10.1016/S2214-109X(20)30489-7

Vrensen GF. Early cortical lens opacities: a short overv-iew. Acta Ophthalmol 2009; 87:602-10. doi: 10.1111/j.1755-3768.2009.01674.x

Phaniendra A, Jestadi DB, Periyasamy L. Free radicals: properties, sources, targets, and their implication in various diseases. Indian J Clin Biochem 2015; 30:11-26. doi: 10.1007/s12291-014-0446-0

Periyasamy P, Shinohara T. Age-related cataracts: Role of unfolded protein response, Ca2+ mobilization, epigenetic DNA modifications, and loss of Nrf2/Keap1 dependent cytoprotection. Prog Retin Eye Res 2017; 6:1-19. doi: 10.1016/j.preteyeres.2017.08.003

Rajkumar S, Praveen MR, Gajjar D, Vasavada AR, Alapure B, Patel D, et al. Activity of superoxide dismutase isoenzymes in lens epithelial cells derived from different types of age-related cataract. J Cataract Refract Surg 2008; 34:470-4. doi: 10.1016/j.jcrs.2007.10.044

Lin D, Barnett M, Grauer L, Robben J, Jewell A, Takemo- to L, et al. Expression of superoxide dismutase in whole lens prevents cataract formation. Mol Vis 2005; 11:853-8.

Olofsson EM, Marklund SL, Behndig A. Enhanced age-related cataract in copper-zinc superoxide dismutase null mice. Clin Exp Ophthalmol 2012; 40:813-20. doi: 10.1111/j.1442-9071.2012.02794.x

Forsberg L, de Faire U, Morgenstern R. Oxidative stress, human genetic variation, and disease. Arch Biochem Biophys 2001; 389:84-93. doi: 10.1006/abbi.2001.2295

Kafeel S, Hashim Z, Fawwad A, Nawab SN. Predispos-ition of SOD1, GPX1, CAT genetic variants and their haplotypes in cataractogenesis of type 2 diabetes mellitus in Pakistan. Acta Diabetol 2022. [Online Ahead of Print] doi: 10.1007/s00592-021-01832-5

Zhang Y, Zhang L, Sun D, Li Z, Wang L, Liu P. Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract. Mol Vis 2011; 17:2325-32.

Hassan B, Ahmed R, Li B, Noor A, Hassan ZU. A comprehensive study capturing vision loss burden in Pakistan (1990-2025): Findings from the Global Burden of Disease (GBD) 2017 study. PloS One 2019; 14:e0216492. doi: 10.1371/journal.pone.0216492

Roberts JE. Screening for ocular phototoxicity. Int J Toxicol 2002; 21:491-500. doi: 10.1080/10915810290169918

Lin D, Barnett M, Grauer L, Robben J, Jewell A, Takemoto L, et al. Expression of superoxide dismutase in whole lens prevents cataract formation. Mol Vis 2005; 11:853-8.

Rong X, Qiu X, Jiang Y, Li D, Xu J, Zhang Y, et al. Effects of histone acetylation on superoxide dismutase 1 gene expression in the pathogenesis of senile cataract. Sci Rep 2016; 6:34704. doi: 10.1038/srep34704

Olofsson EM, Marklund SL, Behndig A. Enhanced age-related cataract in copper-zinc superoxide dismutase null mice. Clin Exp Ophthalmol 2012; 40:813-20. doi: 10.1111/j.1442-9071.2012.02794.x

Taherabadi MS, Nakhaee A. Association Between SOD1 Polymorphism (+ 35A/C) and Senile Cataract. Alborz Univ Med J 2017; 6:219-26.

Celojevic D, Nilsson S, Behndig A, Tasa G, Juronen E, Karlsson JO, et al. Superoxide dismutase gene polymorphisms in patients with age-related cataract. Ophthalmic Genet 2013; 34:140-5. doi: 10.3109/13816810.2012.746377

Downloads

Published

2022-04-09

How to Cite

Mahmood, A. ., Aziz, Q., Nangrejo, R. ., Ahmed, I., Soomro, S., & Ara, I. . (2022). Superoxide Dismutase (SOD1) Gene Polymorphism in Cataract Patients of Karachi, Pakistan. Journal of the Dow University of Health Sciences (JDUHS), 16(1), 22–26. Retrieved from https://jduhs.com/index.php/jduhs/article/view/1609

Issue

Vol. 16 No. 1

Section

Original Articles

License

Copyright (c) 2022 Atif Mahmood, Dr. Qamer Aziz, Dr. Ruqaya Nangrejo, Dr. Iftikhar Ahmed, Dr. Saleh Soomro, Dr. Iffat Ara

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Articles published in the Journal of Dow University of Health Sciences are distributed under the terms of the Creative Commons Attribution Non-Commercial License https://creativecommons.org/ licenses/by-nc/4.0/. This license permits use, distribution and reproduction in any medium; provided the original work is properly cited and initial publication in this journal.