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Association of MTHFR Gene Polymorphism in Diabetic Nephropathy

PUBLISHED July 21, 2022 (DOI: https://doi.org/10.54985/peeref.2207p7008018)



B.K. Iyshwarya1 , Ilibagiza Regine1 , Ramakrishnan Veerabathiran1
  1. Chettinad Academy of Research and Education

Conference / event

Chettinad Academy of Research and Education Presentations, July 2022 (Virtual)

Poster summary

Diabetic nephropathy (DN) is the most common cause of end-stage renal disease (ESRD) in developing countries like India, where the genes, proteins and environmental risk factors contribute to the pathogenesis of this disease. However, gene polymorphism are considered as the one of the important risk factor. The aim of our study was to find out the association of MTHFR (rs1801133) gene polymorphisms in genetic susceptibility of diabetic nephropathy in this population. A total of 15 cases with diabetic nephropathy, 40 cases with Type 2 Diabetes mellitus and 40 healthy control subjects were enrolled for our study. The genotypic distribution of MTHFR polymorphism in DN alleles showed DD 53.3%, Dd 33.3% and dd 13.4% ; while 60%, 25%, 15% in T2DM cases and 70%, 20%, 10% in control subjects. However, the percentage of C allele in controls (72.5%) and T allele in T2DM (27.5%) results shows conspicuous variations in their frequencies than compared to diabetic nephropathy (70%) among this study. No significant differences in genotype frequencies of MTHFR gene polymorphism were found in comparing patients with diabetic nephropathy with type 2 diabetes mellitus and healthy controls (P>0.05). In conclusion the MTHFR gene polymorphism is not associated with susceptibility to diabetic nephropathy in our study population.


Diabetic nephropathy, Polymorphism, Genetics

Research areas



  1. Fowler MJ. Microvascular and Macrovascular Complications of Diabetes. Clinical Diabetes. 2008; 26 (2):77-82.
  2. Carpena MP, Rados DV, Sortica DA, Souza BMd, Reis AF, Canani LH, et al. Genetics of diabetic nephropathy. Arquivos Brasileiros de Endocrinologia and Metabologia. 2010; 54 (3):253-61.
  3. Murussi M, Murussi N, Campagnolo N, Silveiro SP. [Early detection of diabetic nephropathy]. Arquivos brasileiros de endocrinologia e metabologia. 2008 ; 52(3):442-51.
  4. Rich SS. Genetics of Diabetes and Its Complications. Journal of the American Society of Nephrology. 2006; 17 (2):353-60.
  5. Rizvi S, Raza ST, Mahdi F. Association of genetic variants with diabetic nephropathy. World Journal of Diabetes. 2014; 5 (6):809-16.


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Additional information

Competing interests
None declared.
Data availability statement
The datasets generated during and / or analyzed during the current study are available from the corresponding author on reasonable request.
Creative Commons license
Copyright © 2022 Iyshwarya et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Iyshwarya, B., Regine, I., Veerabathiran, R. Association of MTHFR Gene Polymorphism in Diabetic Nephropathy [not peer reviewed]. Peeref 2022 (poster).
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