MTHFR
LOCUS ID4524
GENE_SYMBOLMTHFR
GENE NAMEmethylenetetrahydrofolate reductase (D(P)H)
SYNONYMNSNA
CHROMOSOME1
HOMOLOGENE ID4349
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Both MTHFR 677T and 1298C alleles increased the susceptibility to the onset and progression of DN in Iranians with T2DM.20800057
Retinopathy1. MTHFR gene C677T mutation associated with a predisposition to increase of plasma homocysteine may represent a genetic risk factor for diabetic retinopathy in Chinese type 2 diabetes mellitus12673582
Atherosclerosis1. The MTHFR 677T allele in a rediction of MTHFR activity and an increase in serum homocysteine levels in a dose dependent manner, and thus is possibly involved in the progression of atherosclerosis20134102
Neuropathy1. The MTHFR 677 TT genotype was associated with T2DM susceptibility and complications (DR, DPN and IHD). The MTHFR 1298 CC, AC and ACE DD genotypes were associated with DR and DPN.24452036