RGD Reference Report - Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population. - Rat Genome Database

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Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population.

Authors: Cai, DW  Liu, XF  Bu, RG  Chen, XN  Ning, L  Cheng, Y  Wu, B 
Citation: Cai DW, etal., J Int Med Res. 2009 Nov-Dec;37(6):1882-9.
RGD ID: 6893516
Pubmed: PMID:20146887   (View Abstract at PubMed)

Epidemiological studies have shown that folate deficiency increases the risk of cancer by affecting DNA repair and methylation. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. In this study, it was hypothesized that MTHFR (C677T and A1298C) polymorphisms would be associated with bladder cancer and also with hypermethylation of the promoter of the Ras association domain family 1A (RASSF1A) gene. This hospital-based, case-control study of 312 bladder cancer patients and 325 cancer-free controls found that individuals carrying the MTHFR 677TT genotype had a 2.00-fold increased risk of bladder cancer compared with those carrying the 677CC genotype. None of the MTHFR A1298C polymorphisms alone were associated with bladder cancer, but the combined haplotype 677TT/1298AA was associated with a 2.27-fold increased risk compared with haplotype 677CC/1298AA. There was no association between MTHFR gene variants and methylation status of the RASSF1A gene in the 45 bladder cancer patients in whom this was studied. It is concluded that the MTHFR 677TT genotype and the TTAA haplotype may increase the risk of bladder cancer.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MTHFRHumanurinary bladder cancer susceptibilityIAGP DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)RGD 
MthfrRaturinary bladder cancer susceptibilityISORGD:733483DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)RGD 
MthfrMouseurinary bladder cancer susceptibilityISORGD:733483DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MTHFRHumanAbnormal bladder morphology susceptibilityIAGP DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C RGD 

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)