MTHFR genotyping: published literature
| Author | Objective/study design | n | Polymorphisms | Treatment regimens | Results |
|---|---|---|---|---|---|
| BMT, bone marrow transplant; CML, chronic myelogenous leukaemia; DB, double blind; MTHFR, methylene tetrahydrofolate reductase; MTX, methotrexate; PC, placebo controlled; RA, rheumatoid arthritis.7–9 | |||||
| Ulrich et al9 | C677T modification of response to MTX Retrospective | 220 CML BMT | TT = 16%CT = 42% CC = 42% | MTX intravenous ×4 doses Folate/folic acid unknown | TT genotype associated with ↑ toxicity (mucositis, ↓ platelet recovery) |
| Van Ede et al7 | Relationship between C677T and efficacy and toxicity of MTX | 236 RA | TT = 8% CT = 40% CC = 52% | MTX MTX and folate MTX and folic acid | T/T and T/C genotypes associated with ↑ toxicity and MTX discontinuation |
| Prospective, DB, PC | |||||
| Urano et al8 | C677T and A1298T association with MTX efficacy and toxicity Retrospective | 106 RA | TT = 17% CT = 50% CC = 33% AC = 27% CC = 3% | MTX doses variable(MTX treatment had been discontinued in some patients) Folic acid not given in most cases | Prevalence of polymorphisms was reported to be associated with both MTX efficacy and toxicity T at C677T and C at A1298C—toxicity |