RGD Reference Report - Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes. - Rat Genome Database

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Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes.

Authors: Wiltshire, EJ  Mohsin, F  Chan, A  Donaghue, KC 
Citation: Wiltshire EJ, etal., Pediatr Diabetes. 2008 Aug;9(4 Pt 2):348-53.
RGD ID: 6893652
Pubmed: PMID:18774994   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-5448.2008.00374.x   (Journal Full-text)

Folate status has been associated with endothelial dysfunction in adolescents with type 1 diabetes, and elevated total plasma homoocyst(e)ine (tHcy) is a risk for vascular disease in the non-diabetic population. Polymorphisms in genes involved in folate and homocysteine metabolism are implicated in vascular disease. We aimed to determine whether polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are risk factors for early microvascular disease in a large group of adolescents with type 1 diabetes. Four hundred and eighty adolescents were screened annually for retinopathy and microalbuminuria for a median of 4 yr. Molecular analysis for the polymorphisms 677C-->T, 1298A-->C in MTHFR, and 66A-->G in MTRR was performed. The MTRR 66GG genotype reduced the risk for elevated albumin excretion rate (AER) (OR 0.47, CI 0.25, 0.88, p = 0.018) and showed a trend to reduced risk for microalbuminuria (OR 0.27, CI 0.06-1.21, p = 0.09). Survival without elevated AER was increased with the MTRR 66GG genotype (12.4 vs. 9.7 yr, p = 0.04) and with the MTHFR 1298CC genotype (15.2 vs. 10.2 yr, p = 0.007). Conversely, survival without retinopathy was reduced with the MTHFR 677TT and MTRR 66GG combined genotype (6.2 vs. 10.2 yr, p = 0.015). The MTRR 66GG and MTHFR 1298 CC genotypes may confer protection against early nephropathy, possibly because they are associated with lower tHcy. The MTHFR 677 TT was only related to earlier onset retinopathy in combination with MTRR 66GG.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diabetic Nephropathies  IAGP 6893652Associated with Diabetes Mellitus more ...RGD 
Diabetic Nephropathies  ISOMTRR (Homo sapiens)6893652; 6893652Associated with Diabetes Mellitus more ...RGD 
type 1 diabetes mellitus severityIAGP 6893652DNA:transversion:cds:g.1298A>C (human)RGD 
type 1 diabetes mellitus severityISOMTHFR (Homo sapiens)6893652; 6893652DNA:transversion:cds:g.1298A>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hyperglycemia severityIAGP 6893652DNA:transversion:cds:g.1298A>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)
MTRR  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)


Additional Information