Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

Ochoa, E. et al. (2015) Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis. Clinical and Experimental Rheumatology, 33(4Sup91), S31-S35. (PMID:26314374)

Abstract

OBJECTIVES: The current knowledge of the influence of systemic sclerosis (SSc) risk loci in the clinical sub-phenotypes is still limited. The main limitation lies in the low frequency of some sub-phenotypes which could be solved by replication studies in independent cohorts and meta-analysis between studies. In this regard, CCR6 gene variants have been recently associated with anti-topoisomerase I positive (ATA+) production in SSc patients in a candidate gene study. This gene has been proposed to have a critical role in IL-17-driven autoimmunity in human diseases. METHODS: In order to confirm the association between CCR6 and ATA+ SSc patients, we performed an independent replication study in populations of European ancestry. We studied two CCR6 genetic variants (rs968334 and rs3093024) in a total of 901 ATA+ SSc cases, 3,258 ATA- SSc cases and 7,865 healthy controls and compared allelic frequencies for those SNPs in ATA+ SSc with healthy controls and also with ATA- SSc patients. RESULTS: The comparison performed between ATA+ SSc patients and healthy controls showed significant association with SNP rs968334 (p=4.88x10(-2), OR=1.11). When we compared ATA+ SSc cases with ATA- SSc, both SNPs, rs3093024 and rs968334, showed significant associations (p=2.89x10(-2), OR=1.13; p=1.69x10(-2), OR=1.15). Finally, in order to increase even more sample size and statistical power, we meta-analysed our study with the previous reported and found a significant association between SNP rs3093024 and ATA+ SSc patients (p=1.00x10(-4), OR=1.16) comparing with healthy controls. CONCLUSIONS: Our work confirms the association of CCR6 gene and ATA+ SSc patients.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Shiels, Professor Paul
• Authors: Ochoa, E., Martin, J.-E., Assasi, S., Beretta, L., Carreira, P., Guillén, A., Simeón, C. P., Koumakis, E., Dieude, P., Allanore, Y., García-Hernández, F. J., Espinosa, G., Castellví, I., Trapiella, J. L., Rodriguez, L., González-Gay, M. Á., Egurbide, M. V., Sáez, L., Callejas-Rubio, J. L., Vargas-Hitos, J. A., Hunzelmann, N., Riemekasten, G., Witte, T., Distler, J. H. W., Kreuter, A., Lunardi, C., Santaniello, A., Tan, F. K., Shiels, P. G., Herrick, A., Worthington, J., Vonk, M. C., Koeleman, B. P., Radstake, T. R. D. J., Mayes, M. D., and Martin, J.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: Clinical and Experimental Rheumatology
• Publisher: Pacini Editore SpA
• ISSN: 0392-856X