Annotation of rs1801133

Genotype AA is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype GG.

Genotype AA is associated with increased red blood cell folate when treated with methotrexate as compared to genotype GG but this did not correlate with disease activity or red blood cell methotrexate metabolites.

From Publication

Polymorphisms within the folate pathway predict folate concentrations but are not associated with disease activity in rheumatoid arthritis patients on methotrexate. Pharmacogenetics and genomics. 2010. Stamp Lisa K et al.
PMID:20386493(opens in new window) DOI:10.1097/FPC.0b013e3283398a71(opens in new window)

Gene

MTHFR

Variant

rs1801133

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

1448108623

Score
More info on scoring

-2.5

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    cohort

    Study size

    200

    Association p-value

    = 0.002

    Population description

    Study Cohort: Adult RA, 72.7% female; stats are for increased red blood cell folate when treated with methotrexate in subjects with AA vs GG genotype

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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