Genetic polymorphism of AKR1B1 with diabetic retinopathy: A pilot study

Haider Ali Alnaji; Azhar Hamza Hassan; Rabab Omran

doi:10.53730/ijhs.v6nS3.7898

Authors

Haider Ali Alnaji Medical Laboratory Technology Department, College of Medical Technology, The Islamic University, Najaf, Iraq | Biology Department, College of Science, Babylon University, Babylon, Iraq
Azhar Hamza Hassan Biology Department, College of Science, Babylon University, Babylon, Iraq
Rabab Omran Biology Department, College of Science, Babylon University, Babylon, Iraq

Keywords:

diabetic retinopathy, AKR1B1, rs9640883, polymorphism

Abstract

Background. Diabetic retinopathy (DR) is one of the most common consequences of diabetes. Retinopathy risk may be affected by genetic polymorphisms in the AKR1B1 gene. Method. One hundred thirty-four people with diabetes enrolled in the current study with 36 health control. An ophthalmological evaluation was done along with genotyping for the AKR1B1 rs9640883 SNP for all participants. Results. The result of genotyping the rs9640883 SNP in AKR1B1 with diabetic retinopathy is a GG pattern in all recruited cases with DR or cases without this complication (134 patients) and 36 controls. The mutant AA genotype and the heterozygote GA genotype were absent in the samples. Conclusion. rs9640883 polymorphism was absent in our samples of DR, and it suggests the presence of the wild type in this locus. The A allele of rs9640883 polymorphism was absent in our samples of DR, and it suggests the presence of the wild type (G allele) in this locus.

Downloads

Download data is not yet available.

References

Abhary, S., Burdon, K. P., Laurie, K. J., Thorpe, S., Landers, J., Goold, L., Lake, S., Petrovsky, N., & Craig, J. E. (2010). Aldose Reductase Gene Polymorphisms and Diabetic Retinopathy Susceptibility. Diabetes Care, 33(8), 1834–1836. https://doi.org/10.2337/DC09-1893

Brownlee, M. (2005). The Pathobiology of Diabetic ComplicationsA Unifying Mechanism. Diabetes, 54(6), 1615–1625. https://doi.org/10.2337/DIABETES.54.6.1615

Cao, M., Tian, Z., Zhang, L., Liu, R., Guan, Q., & Jiang, J. (2018). Genetic association of AKR1B1 gene polymorphism rs759853 with diabetic retinopathy risk: A meta-analysis. Gene, 676, 73–78. https://doi.org/10.1016/J.GENE.2018.07.014

Demaine, A. (2003). Polymorphisms of the Aldose Reductase Gene and Susceptibility to Diabetic Microvascular Complications. Current Medicinal Chemistry, 10(15), 1389–1398. https://doi.org/10.2174/0929867033457359

Kao, Y. L., Donaghue, K., Chan, A., Knight, J., & Silink, M. (2000). A novel polymorphism in the aldose reductase gene promoter region is strongly associated with diabetic retinopathy in adolescents with type 1 diabetes. Diabetes, 48(6), 1338–1340. https://doi.org/10.2337/DIABETES.48.6.1338

Kaur, N., Practice, V. V.-D. R. and C., & 2016, undefined. (n.d.). Association of aldose reductase gene (AKR1B1) polymorphism with diabetic retinopathy. Elsevier. Retrieved May 21, 2022, from https://www.sciencedirect.com/science/article/pii/S0168822716305071

Li, W., Chen, S., Mei, Z., Zhao, F., & Xiang, Y. (2019). Polymorphisms in sorbitol-aldose reductase (Polyol) pathway genes and their influence on risk of diabetic retinopathy among han Chinese. Medical Science Monitor, 25, 7073–7078. https://doi.org/10.12659/MSM.917011

Madsen, H. O., Garred, P., Kurtzhals, J. A. L., Lamm, L. U., Ryder, L. P., Thiel, S., & Svejgaard, A. (1994). A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. Immunogenetics, 40(1), 37–44.

Mogilevskyy, S. I., & Bushuieva, O. v. (2017). Predicting the development of diabetic retinopathy based on identification of rs759853 and rs9640883 in the AKR1B1 gene. In Journal of Ophthalmology.

Mogilevskyy, S., (Ukraine), O. B.-J. of O., & 2017, undefined. (n.d.). Predicting the development of diabetic retinopathy based on identification of rs759853 and rs9640883 in the AKR1B1 gene. Ozhurnal.Com. Retrieved May 21, 2022, from http://www.ozhurnal.com/sites/default/files/2017-4-1.pdf

Pinazo-Durán, M. D., Zanón-Moreno, V., Lleó-Perez, A., García-Medina, J. J., Galbis-Estrada, C., Roig-Revert, M. J., Marco-Ramírez, C., López-Gálvez, M., Dolz-Marco, R., Duarte, L., Campos Borges, C., Salgado-Borges, J., & Gallego-Pinazo, R. (2016). Genetic systems for a new approach to risk of progression of diabetic retinopathy. Archivos de La Sociedad Española de Oftalmología (English Edition), 91(5), 209–216. https://doi.org/10.1016/J.OFTALE.2016.01.016

Priščáková, P., Minárik, G., & Repiská, V. (2016). Candidate gene studies of diabetic retinopathy in human. Molecular Biology Reports, 43(12), 1327–1345. https://doi.org/10.1007/S11033-016-4075-Y

Romero-Aroca, P., Baget-Bernaldiz, M., Pareja-Rios, A., Lopez-Galvez, M., Navarro-Gil, R., & Verges, R. (2016). Diabetic Macular Edema Pathophysiology: Vasogenic versus Inflammatory. Journal of Diabetes Research, 2016. https://doi.org/10.1155/2016/2156273

Shawki, H. A., Elzehery, R., Abo-hashem, E. M., Shahin, M., & Youssef, M. M. (2020). Gene polymorphism of C106T “rs759853” is not associated with diabetic retinopathy in Egyptian patients with type 2 diabetes mellitus. Gene Reports, 21. https://doi.org/10.1016/j.genrep.2020.100865

Sirugo, G., Williams, S. M., & Tishkoff, S. A. (2019). The missing diversity in human genetic studies. Cell, 177(1), 26–31.

Ting, D. S. W., Cheung, G. C. M., & Wong, T. Y. (2016). Diabetic retinopathy: global prevalence, major risk factors, screening practices and public health challenges: a review. Clinical & Experimental Ophthalmology, 44(4), 260–277. https://doi.org/10.1111/CEO.12696

Wang, Y., Ng, M. C. Y., Lee, S.-C., So, W.-Y., Tong, P. C. Y., Cockram, C. S., Critchley, J. A. J. H., & Chan, J. C. N. (2003). Phenotypic heterogeneity and associations of two aldose reductase gene polymorphisms with nephropathy and retinopathy in type 2 diabetes. Am Diabetes Assoc. https://diabetesjournals.org/care/article-abstract/26/8/2410/22913