Annotation of rs2234693

Genotype TT is associated with increased response to leflunomide in women with Arthritis, Rheumatoid as compared to genotype CC.

rs9340799 and rs2234693 were in linkage disequilibrium: haplotype A-T was associated with better response and haplotype G-C with worse response.

Gene

ESR1

Variant

rs2234693

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

PharmGKB ID

827783469

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

    = 0.016

    Allele frequency

    T=0.52

    Biogeographical group
    More info on groups

    Unknown. Not stated

    Population description

    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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