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Estrogen receptor alpha gene (ESR1) variant is associated with rheumatoid arthritis susceptibility and to particular clinical manifestations of the disease

Manuela Nunes Drehmer, Gabriel Vaisam Castro, Ivanio Alves Pereira, Iliada Rainha de Souza & Sara Emelie Lofgren*

Objective: Several lines of evidence suggest a pivotal role of the estrogen pathway in several autoimmune-related responses and disease. The aim of this study was to investigate the association of a variant in ESR1 gene with RA susceptibility and expand the analysis to specific clinical manifestations of RA in a sample of Brazilian patients.

Methods: 449 individuals (268 healthy controls and 181 RA patients) were genotyped for the polymorphism rs2234693 in the ESR1 gene with Taqman SNP probes. The patient’s group was composed by 153 female and 28 men. Association analysis were performed by logistic regression using SPSS software.

Results: The rs2234693 variant is associated with RA in males and females (rs2234693-CC genotype OR = 2.21, p = 0.0032). The rs2234693-CC genotype was also associated with the presence of cardiopathy (OR = 2.40, p = 0.025), high blood pressure (OR = 2.50, p = 0.019) and osteoporosis (OR = 1.94, p = 0.031), and also with the presence of anti-CCP antibodies (rs2234693-C allele OR= 1.91, p = 0.024).

Conclusion: ESR1 is associated with RA, as well as with the presence of anti-CCP antibodies and particularRA-associated clinical manifestations (cardiopathy, high blood pressure and osteoporosis). Our study presents the first evidence of association between ESR1 variant and RA.