RGD Reference Report - A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls. - Rat Genome Database

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A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls.

Authors: Linnebank, M  Homberger, A  Nowak-Gottl, U  Koch, HG 
Citation: Linnebank M, etal., Hum Mutat. 2002 Dec;20(6):478.
RGD ID: 10449394
Pubmed: PMID:12442281   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.9089   (Journal Full-text)

The common polymorphic transition 677C>T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene causes a thermolabile enzyme variant. This variant is associated with moderate hyperhomocysteinemia, a risk factor for vascular disease and thrombophilia. Up to now, it remained unclear if the thermolabile MTHFR variant either directly predisposes to vascular disease, or if 677T is only a genetic marker for another causative genetic alteration in cis. Aim of this study was to characterize the genetic background of 677T-alleles by haplotype analysis. We analyzed 25 individuals of German descent homozygous for 677T: nine young patients, who had suffered from thromboembolic events, and 16 healthy controls. The results of this study demonstrate that the 677T alleles are associated with a common haplotype most likely due to a founder effect and that the 677T haplotype was the same in the healthy and the thrombophilic German subjects.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MTHFRHumanVenous Thrombosis no_associationIAGP DNA:transition: :677C>T (human)RGD 
MthfrRatVenous Thrombosis no_associationISORGD:733483DNA:transition: :677C>T (human)RGD 
MthfrMouseVenous Thrombosis no_associationISORGD:733483DNA:transition: :677C>T (human)RGD 


Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)