RGD Reference Report - Polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and thymidylate synthase (TYMS) in multiple myeloma risk. - Rat Genome Database

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Polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and thymidylate synthase (TYMS) in multiple myeloma risk.

Authors: Lima, CS  Ortega, MM  Ozelo, MC  Araujo, RC  De Souza, CA  Lorand-Metze, I  Annichino-Bizzacchi, JM  Costa, FF 
Citation: Lima CS, etal., Leuk Res. 2008 Mar;32(3):401-5. Epub 2007 Jul 25.
RGD ID: 11075095
Pubmed: PMID:17655928   (View Abstract at PubMed)
DOI: DOI:10.1016/j.leukres.2007.06.001   (Journal Full-text)

We tested whether the polymorphisms of the methylenetetrahydrofolate reductase gene, MTHFR C677T and A1298C, the methionine synthase gene, MTR A2756G, the methionine synthase reductase gene, MTRR A66G, and the thymidylate synthase gene, TYMS 2R-->3R, involved in folate and methionine metabolism, altered the risk for multiple myeloma (MM). Genomic DNA from 123MM patients and 188 controls was analysed by polymerase chain reaction and restriction digestion for the polymorphism analyses. The frequency of the MTR 2756 AG plus GG genotype was higher in patients than in controls (39.8% versus 23.4%, P=0.001). Individual carriers of the variant allele G had a 2.31 (95% CI: 1.38-3.87)-fold increased risk for MM compared with others. In contrast, similar frequencies of the MTHFR, the MTRR and the TYMS genotypes were seen in patients and controls. These results suggest, for the first time, a role for the MTR A2756G polymorphism in MM risk in our country, but should be confirmed by large-scale epidemiological studies with patients and controls age matched.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
multiple myeloma susceptibilityIAGP 11075095DNA:polymorphism: :2756A>G(human)RGD 
multiple myeloma susceptibilityIAGP 11075095DNA:polymorphism: :66G>A(human)RGD 
multiple myeloma susceptibilityISOMTR (Homo sapiens)11075095; 11075095DNA:polymorphism: :2756A>G(human)RGD 
multiple myeloma susceptibilityISOMTRR (Homo sapiens)11075095; 11075095DNA:polymorphism: :66G>A(human)RGD 
multiple myeloma no_associationIAGP 11075095DNA:repeats:5'UTR:RGD 
multiple myeloma no_associationISOTYMS (Homo sapiens)11075095; 11075095DNA:repeats:5'UTR:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
Tyms  (thymidylate synthetase)

Genes (Mus musculus)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
Tyms  (thymidylate synthase)

Genes (Homo sapiens)
MTR  (5-methyltetrahydrofolate-homocysteine methyltransferase)
MTRR  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
TYMS  (thymidylate synthetase)


Additional Information