Rheumatoid arthritis (RA) is a complex autoimmune disease with a strong genetic contribution in its pathogenesis. There is compelling evidence that autoimmunity is under genetic control and that oestrogens and their receptors (ESRs) can play a role in the high prevalence of RA in females.
A total of 318 female patients with RA and 250 controls were examined. Common single nucleotide polymorphisms (SNPs) in the ESR1 (rs9340799:A>G, rs2234693:T>C) and ESR2 (rs4986938:G>A, rs1256049:G>A) genes encoding oestrogen receptors, previously associated with altered receptor expression, were selected for the purpose of this study.
There were no significant differences in the distributions of studied genotypes and alleles between RA patients and a control group. The age at disease diagnosis was lower in carriers of the ESR1 rs9340799 A allele compared with GG homozygotes as well as in patients with ESR1 rs2234693 TT and CT genotypes compared with CC homozygotes. There was no significant association of the genotypes with rheumatoid factor (RF), erosive disease, extra-articular manifestations, or anti-cyclic citrullinated peptide (anti-CCP) antibodies.
The results of the study suggest that polymorphisms in the ESR1 gene may be associated with the age of onset of RA.