RGD Reference Report - MTHFR C677T polymorphism as a risk factor for vascular calcification in chronic hemodialysis patients. - Rat Genome Database

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MTHFR C677T polymorphism as a risk factor for vascular calcification in chronic hemodialysis patients.

Authors: Lee, SY  Kim, HY  Park, KM 
Citation: Lee SY, etal., J Korean Med Sci. 2011 Mar;26(3):461-5. Epub 2011 Feb 25.
RGD ID: 6893475
Pubmed: PMID:21394321   (View Abstract at PubMed)
PMCID: PMC3051100   (View Article at PubMed Central)
DOI: DOI:10.3346/jkms.2011.26.3.461   (Journal Full-text)

Polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T is one of the suggested risk factors for atherosclerosis. However, few studies have reported on the relationship between MTHFR C677T polymorphism and vascular calcification (VC) in chronic hemodialysis patients. We investigated the relationship between the MTHFR C677T polymorphism and VC in 152 chronic hemodialysis patients. Patients with a TT genotype exhibited significantly higher VC scores than patients expressing CC and CT (P = 0.002). The prevalence of peripheral vascular disease increased with the incidence of MTHFR C677T mutations for all patients, and the incidence of cerebrovascular accidents also increased with the presence of mutations for young patients (

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Vascular Calcification severityIAGP 6893475DNA:transition:cds:g.677C>T (human)RGD 
Vascular Calcification severityISOMTHFR (Homo sapiens)6893475; 6893475DNA:transition:cds:g.677C>T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal arterial physiology severityIAGP 6893475DNA:transition:cds:g.677C>TRGD 
Abnormal vascular morphology severityIAGP 6893475DNA:transition:cds:g.677C>TRGD 
Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information