RGD Reference Report - MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients. - Rat Genome Database

RGD Reference Report - MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients. - Rat Genome Database

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MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients.
Authors:	Maeda, M Yamamoto, I Fukuda, M Motomura, T Nishida, M Nonen, S Fujio, Y Kasayama, S Azuma, J
Citation:	Maeda M, etal., J Diabetes Complications. 2008 Mar-Apr;22(2):119-25.
RGD ID:	6893576
Pubmed:	PMID:18280442 (View Abstract at PubMed)
DOI:	DOI:10.1016/j.jdiacomp.2006.12.002 (Journal Full-text)
AIMS: Previously, we have proposed that methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) could be a risk factor for diabetic retinopathy. To support our suggestion, we examined in detail the association of MTHFR polymorphism with diabetic retinopathy and nephropathy in Japanese type 2 diabetic patients. METHODS: Subjects (n=190) were free of cardiovascular diseases and were not on hemodialysis. Retinopathy was assessed according to fundamental differentiation; nephropathy was determined according to urinary albumin level; and MTHFR genotype was determined by polymerase chain reaction-restriction fragment length polymorphism. We also analyzed how hyperglycemia affected these three conditions in 131 patients with glycosylated hemoglobin > or =6.5% and fasting blood sugar > or =110 mg/dl. RESULTS: The frequency of 677T/677T homozygous subjects with retinopathy was higher than the frequencies of the other two genotypes, and a significant difference was observed in the distribution of the genotypes (677C/677C, 41.9%; 677C/677T, 31.1%; 677T/677T, 61.5%; P<.05). The susceptibility of 677T/677T homozygote to retinopathy approached significance [odds ratio (OR)=2.17; 95% confidence interval (95% CI)=0.87-5.42]. However, in the population with hyperglycemia, the 677T/677T homozygote modified the risk for retinopathy (OR=4.30; 95% CI=1.42-13.1), especially the risk for nonproliferative retinopathy. In contrast, the 677T/677T homozygote did not affect the risk for nephropathy (OR=1.17; 95% CI=0.45-3.05), even in subjects with hyperglycemia (OR=1.50; 95% CI=0.50-4.48). CONCLUSIONS: Our results are highly suggestive of an important role for MTHFR genotype in susceptibility to retinopathy under hyperglycemia, but not to nephropathy. Preventive therapies based on MTHFR polymorphism could delay the onset of retinopathy in type 2 diabetic patients.

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
MTHFR	Human	Diabetic Nephropathies	no_association	IAGP		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	RGD
Mthfr	Rat	Diabetic Nephropathies	no_association	ISO	RGD:733483	associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	RGD
Mthfr	Mouse	Diabetic Nephropathies	no_association	ISO	RGD:733483	associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
MTHFR	Human	Elevated circulating creatinine concentration	no_association	IAGP		associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T	RGD
MTHFR	Human	Hyperglycemia	no_association	IAGP		associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T	RGD

Genes (Rattus norvegicus)


Mthfr (methylenetetrahydrofolate reductase)

Genes (Mus musculus)


Mthfr (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)


MTHFR (methylenetetrahydrofolate reductase)