Effect of ESR1 and ESR2 gene polymorphisms on rheumatoid arthritis treatment with methotrexate

Rheumatoid arthritis (RA) is a complex autoimmune disease with clinical prevalence in women. Moreover, women have poorer response to treatment than men. Possible reasons for gender differences in response to treatment could be explained on the basis of sex hormones and their receptors. The optimal strategy in treatment of RA is to use effective disease modifying antirheumatic drugs (DMARDs) such as methotrexate (MTX). The aim of the present study was to examine the association between polymorphisms in the ESR1 and ESR2 genes and the response to treatment of RA patients with methotrexate. The study was carried out on 156 women diagnosed with active rheumatoid arthritis, treated with MTX. Good responders were defined as patients who were receiving MTX and had a DAS28 of ≤ 2.4 after 6 months of therapy (patients with remission of disease symptoms). Poor-responders were defined as patients who were receiving MTX and had a DAS28 of > 2.4. There were no statistically significant associations of ESR1 and ESR2 gene polymorphisms with response to treatment. The results of the present study suggest that the polymorphisms rs9340799:A>G and rs2234693:T>C in ESR1 gene and rs4986938:G>A and 1256049:G>A in ESR2 gene are not associated with response to RA treatment with MTX.