RGD Reference Report - MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. - Rat Genome Database

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MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children.

Authors: De Lima, EL  Da Silva, VC  Da Silva, HD  Bezerra, AM  De Morais, VL  De Morais, AL  Cruz, RV  Barros, MH  Hassan, R  De Freitas, AC  Muniz, MT 
Citation: de Lima EL, etal., Pediatr Blood Cancer. 2010 Jul 1;54(7):904-8. doi: 10.1002/pbc.22472.
RGD ID: 8694083
Pubmed: PMID:20310006   (View Abstract at PubMed)
DOI: DOI:10.1002/pbc.22472   (Journal Full-text)

BACKGROUND: Polymorphisms in the genes of folate and methionine metabolism enzymes have been associated with some forms of cancer by affecting DNA synthesis, repair, and methylation. PROCEDURE: A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed to investigate whether the polymorphisms of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), carrier of reduced folate 1 (RFC-1 A80G) and thymidylate synthase (TYMS 2R > 3R) altered the risk for retinoblastoma. RESULTS: MTR A2756G AG plus GG genotype frequencies were higher in patients than in controls (45% vs. 26%, P = 0.03). Individual carriers of the variant allele G had a 2.02 (95% CI: 1.05-3.92)-fold increased risk for retinoblastoma. In contrast, no association was observed with respect to MTHFR C677T and A1298C, RFC A80G, and TYMS polymorphisms. CONCLUSIONS: This study presents evidence for an association between the MTR A2756G polymorphism and retinoblastoma susceptibility in a Northeast population from Brazil.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MTRHumanretinoblastoma susceptibilityIAGP DNA:SNP::2756A>G(human)RGD 
MtrRatretinoblastoma susceptibilityISOMTR (Homo sapiens)DNA:SNP::2756A>G(human)RGD 
MtrMouseretinoblastoma susceptibilityISOMTR (Homo sapiens)DNA:SNP::2756A>G(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)

Genes (Mus musculus)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)

Genes (Homo sapiens)
MTR  (5-methyltetrahydrofolate-homocysteine methyltransferase)


Additional Information