Association between the COMMD1 gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population

Abstract

Abstract Introduction: COMMD1 is a pleiotropic protein that is involved in NF-kB regulation. NF-kB signaling is relevant for the evolution and treatment of RA. The minor allele G of the polymorphism rs11125908 in Commd1 has been associated with a higher expression of COMMD1 and a decrease in bone erosions in Japanese patients. Objectives: To evaluate the association of the rs11125908 polymorphism in the Cuban population with RA and its association with important clinical variables. Methods: Allele specific-PCR was used to genotype 150 controls and 161 cases. Association statistical analysis was conducted by adjusting for age and sex using SNPStats. Results: An association of the SNP with the disease was found in overdominant model (P = 0.025; OR = 1.91) for the AG genotype. Our analyses revealed a significant association between rs11125908 and the subgroup of patients with swollen joints < median under codominant model for A/G (P = 0.034; OR = 2.30) and GG genotype (P = 0.034; OR = 0.82) and with the overdominant model (P = 0.01; OR = 2.38). The subgroup of patients with the age of onset lower than the mean, the AG genotype showed association in the overdominant model (P = 0.027; OR = 2.27). DAS28 and Time of disease evolution variables were not associated with the rs11125908 polymorphism. Conclusions: The rs11125908 polymorphism may be associated with RA. In particular, rs11125908 was significantly associated with RA and also in the number of swollen joints and age of onset subgroup analyses. Our study may provide new concepts for individualized treatments of RA based on pharmacological management of COMMD1 expression.