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

Ochoa E, Martin JE, Assassi S, Beretta L, Carreira P, Guillen A, Simeon CP, Koumakis E, Dieude P, Allanore Y, Garcia-Hernandez FJ, Espinosa G, Castellvi I, Trapiella JL, Rodriguez L, Gonzalez-Gay MA, Egurbide MV, Saez L, Callejas-Rubio JL, Vargas-Hitos JA, Hunzelmann N, Riemekasten G, Witte T, Distler J, Kreuter A, Lunardi C, Santaniello A, Tan FK, Shiels PG, Herrick A, Worthington J, Vonk MC, Koeleman BP, Radstake TRDJ, Mayes MD, Martin J (2015)

Publication Type: Journal article

Publication year: 2015

Journal

Book Volume: 33 Suppl 9

Pages Range: 31-5

Journal Issue: 4

Abstract

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.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.The comparison performed between ATA+ SSc patients and healthy controls showed significant association with SNP rs968334 (p=4.88 x 10-2, OR=1.11). When we compared ATA+ SSc cases with ATA- SSc, both SNPs, rs3093024 and rs968334, showed significant associations (p=2.89 x 10-2, OR=1.13; p=1.69 x 10-2, 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=1.00 x 10-4, OR=1.16) comparing with healthy controls.Our work confirms the association of CCR6 gene and ATA+ SSc patients.

Authors with CRIS profile

Involved external institutions

Hospitales Universitarios Virgen Macarena y Virgen del Rocío Spain (ES) Spanish National Research Council / Consejo Superior de Investigaciones Científicas (CSIC) Spain (ES) University of Texas Health Science Center at Houston (UTHealth) United States (USA) (US) Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico Italy (IT) Hospital Universitario 12 de Octubre Spain (ES) Vall d'Hebron University Hospital / Hospital Universitari Vall d'Hebron Spain (ES) Hôpital Cochin France (FR) University of Paris 7 - Denis Diderot / Université Paris VII Denis Diderot France (FR) Hospital Clínic de Barcelona Spain (ES) Hospital de la Santa Creu i Sant Pau Spain (ES) Central University Hospital of Asturias Spain (ES) Hospital Clínico San Carlos Spain (ES) Marqués de Valdecilla University Hospital / Hospital Universitario de Marqués de Valdecilla (HUMV) Spain (ES) Hospital Universitario de Cruces Spain (ES) Hospital Universitario Miguel Servet Spain (ES) Hospital Universitario San Cecilio Spain (ES) Hospital Universitario Virgen de las Nieves Spain (ES) Universität zu Köln Germany (DE) Charité - Universitätsmedizin Berlin Germany (DE) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Ruhr-Universität Bochum (RUB) Germany (DE) University of Verona / Università degli Studi di Verona Italy (IT) University of Glasgow United Kingdom (GB) University of Manchester United Kingdom (GB) Radboud University Nijmegen Netherlands (NL) University Medical Centre Utrecht (UMC Utrecht) Netherlands (NL)

How to cite

APA:

Ochoa, E., Martin, J.-E., Assassi, S., Beretta, L., Carreira, P., Guillen, A.,... Martin, J. (2015). Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis. Clinical and Experimental Rheumatology, 33 Suppl 9(4), 31-5.

MLA:

Ochoa, E., et al. "Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis." Clinical and Experimental Rheumatology 33 Suppl 9.4 (2015): 31-5.

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