Annotation of rs1256049

Genotype CC is not associated with increased response to leflunomide in women with Arthritis, Rheumatoid as compared to genotypes CT + TT.

rs4986938 and rs1256049 were in linkage disequilibrium.

From Publication

The effect of ESR1 and ESR2 gene polymorphisms on the outcome of rheumatoid arthritis treatment with leflunomide. Pharmacogenomics. 2011. Dziedziejko Violetta et al.
PMID:21174621(opens in new window) DOI:10.2217/pgs.10.164(opens in new window)

Gene

ESR2

Variant

rs1256049

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

827783502

Score
More info on scoring

-1.5

Evidence for Clinical Annotations

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

    Study Parameters

    Study type

    cohort

    Study size

    115

    Association p-value

    = 0.874

    Allele frequency

    C=0.93

    Biogeographical group
    More info on groups

    Unknown. not stated

    Population description

    Study Cohort: Study Cohort: Women with Rheumatoid Arthritis, treated with only leflunomide for 12 months. Disease activity parameters were compared after 12 months treatment with baseline. P-value given here is for DAS28 (disease activity score for 28 joints).

    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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