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Board 1 / Thu 9:40, 11 Dec 2014

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ERBB3 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 3) is a member of the epidermal growth factor receptor family of receptor tyrosine kinases and acts as a membrane-bound protein with a neuregulin binding domain but lacks an active kinase domain. When ERBB3 forms heterodimers with other EGF receptor family members, which have kinase activity, leads to the activation of pathways involved in cell proliferation or differentiation [1].

ERBB3 may play a critical role in immune regulation and autoimmune diseases’ pathogenesis. Specifically, 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 [2-4].

Recently, ERBB3 gene variants were implicated in type 1 diabetes  (T1D), atopic dermatitis (AD), systemic lupus erythematosus (SLE), and the concurrence of thyroid autoimmunity (AITD) in T1D in independent genetic association studies. In the present study we searched, for the first time, the role of ERBB3 gene in RA liability too [5-8].


One hundred and eighty-six RA patients and 147 controls were enrolled in the study (Table 1).

Polymerase chain reaction–restriction fragment length polymorphism assay was conducted in ERBB3 rs2271189 (a synonymous coding variant located in exon 27) and rs2292239 (located in intron 7) polymorphisms’ genotyping.

The SPSS statistical package was used to test differences in polymorphisms’ distribution between RA patients and controls.


The studied polymorphisms rs2292239 and rs2271189 were found to be in Hardy-Weinberg equilibrium in both RA patients and controls (RA: p=0.669, p=0.660, Controls: p=0.615, p=0.806; respectively).

A trend of statistical significant difference was observed in rs2271189 genotypes’ distribution between RA patients and controls (Table 2). However, the statistical significant difference was clearly in rs2271189 alleles’ distribution between RA patients and controls (Table 2). The power of the two sample size groups was estimated to be 70.8% giving that the 33.3% of RA patients carried the rs2271189 minor T allele vs. the 25.5% of control subjects.


§ Previously, ERBB3 has been correlated with the pathogenesis of several types of cancer and immune diseases [5-8].
§ ERBB3 gene is mapped at 12q13 chromosome, a locus which has been implicated previously with RA predisposition [9].
§ In the present study, positive association was revealed between rs2271189 polymorphism and RA with the minor T allele to be in higher frequency in RA patients compared to controls. In contrast, no association was revealed between rs2292239 polymorphism and RA susceptibility. Our results seem to confirm the suggestion that rs2271189 predicts better the association of ERBB3 gene with disorders than the previously reported ERBB3 variants [10].
§ In genome wide association studies, the ERBB3 gene variant rs2271189 has not been implicated in RA pathogenesis. The fact that we revealed, with a good statistical power, the positive association of this common variant with a probable small effect in a small RA patients’ group seems to increase the significance of our finding. As a result, more studies in other ethnical groups of patients are needed to confirm and reveal the extent of the observed here genetic association.


[1]  Mei L, Xiong WC. Nat Rev Neurosci, 2008, 9, 437–452. 

[2] Frolov A, Schuller K, Tzeng CW, et al. Cancer Biol Ther, 2007, 6, 548–554.

[3] Fruman DA. Biochemical Society Transactions, 2007, 35, 177–180.

[4] Wang H, Jin Y, Reddy MV, et al. PLoS One, 2010, 26, e11789.

[5] Huang W, Wang P, Liu Z, Zhang L. BMC Bioinformatics, 2009, 10 Suppl 1, S68.

[6] Eyre S, Hinks A, Bowes J, et al. Arthritis Res Ther, 2010, 1, R175.

[7] Lewis SN, Nsoesie E, Weeks C, Qiao D, Zhang L. PLoS One, 2011, 6, e27175.

[8] Ramos PS, Criswell LA, Moser KL, et al. PLoS Genet, 2011, 7, e1002406.

[9] Barton A, Thomson W, Ke X, et al. Nat Genet, 2008, 40, 1156-1159.

[10] Keene KL, Quinlan AR, Hou X, et al. Genes Immun, 2012, 13, 66-70.