Objective: In this study, we investigated whether MTHFR gene C677T and A1298C polymorphisms contribute to the etiopathogenesis of diabetic peripheral neuropathies.

Materials and Methods: The patients group was constituted 103 individuals with diabetic peripheral polyneuropathy diagnosed by electrophysiological techniques who were followed the diagnosis of type 2 DM at least 10 years at the Selçuk University Meram Medical School, Department of Internal Medicine. The control group was constituted 100 healthy volunteers randomly selected and living in Konya. Blood samples were collected after written consent from patients and control group. MTHFR gene C677T and A1298C polymorphisms was investigated using pyrosequence technique.

Results: In our study, there was not found any statistically significant diffrences allele and genotype frequencies of MTHFR gene C677T and A1298C polymorphisms when patient and control groups were compared. Nevertheless, the number of individuals who had 2 or more the mutant allele in the patients group were significantly higher than the control group, compared with the number of individuals who had 1 and less than the mutant allele (P= 0.01).

Conclusion: As the number of polymorphic alleles of MTHFR gene C677T and A1298C polymorphisms in type 2 DM patients may predispose to the development of diabetic peripheral polyneuropathy. But, polygenic nature of diabetic peripheral polyneuropathy and influenced of environmental factors makes it difficult to reveal the effect of MTHFR gene polymorphisms in diabetic peripheral polyneuropathy. Thus the genetic causes of diabetic peripheral polyneuropathies may be elucidated by large-scale multi-center studies containing different ethnic groups and consisting of more individuals.