Objectives Genome wide association studies revealed that type 1 diabetes (T1D) and rheumatoid arthritis (RA) share many genetic loci. Recently, ERBB3 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 3) gene was reported to be related strongly with T1D predisposition. Furthermore, ERBB3 was reported i) to be expressed on the surface of CD11c+ cells (monocytes and dendritic cells), ii) to correlate with the ability of APC to stimulate T cell proliferation, and iii) to play critical role in the activation of the ERBB3-PI3K-Akt cascade while disturbances in its activation have been associated with reduced numbers of regulatory T cells. The aim of the present study was to search ERBB3 gene association with RA liability.
Methods One hundred and eighty-six RA patients and 147 controls were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphism assay was conducted in rs2271189 and rs2292239 genotyping.
Results Statistical significant difference was observed in rs2271189 alleles’ distribution between RA patients and controls (p = 0.029, OR: 1.460, 95% CI: 1.040-2.050).
Conclusions As far to our knowledge, this is the first study which correlates ERBB3 gene with RA susceptibility adding to a previous report of chromosome 12q13 association with RA liability. Furthermore, we confirmed that polymorphism rs2271189 can predict better ERBB3 gene association with disorders than the previously reported ERBB3 variants. In conclusion, more studies are needed in larger groups of patients in order to increase the power of the observed here genetic association, while functional studies of ERRB3 gene could specify its mode of function in immune related diseases.
Disclosure of Interest None Declared