title: Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy.
abstract: OBJECTIVE
  Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. Methylenetetrahydrofolate reductase (MTHFR) gene variants have been associated with vasculopathy that has been linked to diabetic neuropathy. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and DPN and evaluate if there is an association with clinical features in a relatively large cohort of Turkish patients.
  
  
  METHODS
  The study included 230 patients affected by DPN and 282 healthy controls. Genomic DNA was isolated and genotyped using the polymerase chain reaction-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation.
  
  
  RESULTS
  The genotype and allele frequencies of the C677T mutation showed statistically significant differences between the patients with DPN and the controls (p=0.003 and p=0.002, respectively). After the patients with DPN were stratified according to clinical and demographic characteristics, a significant association was observed between the C677T mutation and history of retinopathy (p=0.039).
  
  
  CONCLUSIONS
  A high association between the MTHFR gene C677T mutation and DPN was observed in the present study. In addition, history of retinopathy was associated with the MTHFR C677T mutation in patients with DPN.
authors.affiliation: Gaziosmanpasa University, Faculty of Medicine, Department of Medical Biology, Tokat, Turkey. yigit.serbulent@gmail.com
authors.forename: Serbulent
authors.initials: S
authors.lastname: Yigit
authors.forename: Nevin
authors.initials: N
authors.lastname: Karakus
authors.forename: Ahmet
authors.initials: A
authors.lastname: Inanir
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D016022:Case-Control Studies; D003710:Demography; D003929:Diabetic Neuropathies / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
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