MTHFR gene at rs A1298C polymorphism in type II diabetes among Iranian population
Negin Jafarian 1, Mohammad Hasan Sheikhha 2 3 * , Ali Akbar Samadani 4 *
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1 Department of Biology, Ashkzar Branch, Islamic Azad University, Ashkzar, Iran
2 Biotechnology Research Center, International Campus, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3 Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4 Gastrointestinal and liver diseases research center (GLDRC), Guilan University of Medical Sciences, Rasht, Iran
* Corresponding Author


Diabetes mellitus type II is a complex endocrine and metabolic disorder. Correspondingly, interference between multiple environmental, genetic and epigenetic factors cause a progressive and heterogeneous disorder with varying degrees of insulin resistance and dysfunction of islets. In this account, MTHFR gene (Methylene tetrahydrofolate reductase) is located on the chromosome 1 and its relationship with diabetes is unclear.

In a case-control study, blood samples of 150 patients with type II diabetes referred to the Central Laboratory in Yazd city, Iran was tested to determine the polymorphism A1298C of MTHFR gene using 4P-ARMS-PCR method as the control group 150 normal subjects without diabetes were compared.

AA Genotype was reported % 66.4 in patients and 42% in the control group. AC genotype was % 66.30 in patients and % 33.9 in controls. Finally CC genotype was report % 66.64 inpatients and % 66.48in the control group. Our study showed that the prevalence of polymorphisms studied in patients had a significant difference with controlled group (p = 0.000). When checking diabetes complications, there was significant difference between these polymorphisms and neuropathy (p = 0.008).

MTHFR gene could be raised as one of the genes associated with susceptibility to type II diabetes. A1298C polymorphism of this gene can also be considered for the incidence of neuropathy.


This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

Electron J Gen Med, 2018 - Volume 15 Issue 4, Article No: em38

Publication date: 16 Mar 2018

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