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

Eguzkine Ochoa*, José Ezequiel Martin, Shervin Assassi, Lorenzo Beretta, Patricia Carreira, Alfredo Guillén, Carmen Pilar Simeón, Eugénie Koumakis, Philippe Dieude, Yannick Allanore, Francisco J. García-Hernández, Gerard Espinosa, Ivan Castellví, Jose Luis Trapiella, Luis Rodriguez, Miguelángel González-Gay, María Victoria Egurbide, Luis Sáez, Jose Luis Callejas-Rubio, Jose Antonio Vargas-HitosNicolas Hunzelmann, Gabriela Riemekasten, Torsten Witte, Jörg H.W. Distler, Alexander Kreuter, Claudio Lunardi, Alessandro Santaniello, Filemon K. Tan, Paul G. Shiels, Ariane Herrick, Jane Worthington, Madelon C. Vonk, Bobby P. Koeleman, Timothy R.D.J. Radstake, Maureen D. Mayes, Javier Martin, Norberto Ortego-Centeno, Raquel Ríos, Cecilio Granada, María Teresa Camps, Antonio Fernández-Nebro, Julio Sánchez-Román, M. Jesús Castillo, M. ángeles Aguirre, Inmaculada Gómez-Gracia, Benjamín Fernández-Gutiérrez, Esther Vicente, José Luis Andreu, Mónica Fernández De Castro, Paloma García De la Peña, Francisco Javier López-Longo, Lina Martínez, Vicente Fonollosa, Carlos Tolosa, Anna Pros, Mónica Rodríguez Carballeira, Manel Rubio Rivas, Vera Ortiz Santamaría, Ana Belén Madroñero, Bernardino Díaz, Mayka Freire, Adrián Sousa, Patricia Fanlo Mateo, Federico Díaz, Vanesa Hernández, Emma Beltrán, Elena Grau, José Andrés Román-Ivorra, Juan José Alegre Sancho, Francisco J. Blanco García, Natividad Oreiro

*Corresponding author for this work
9 Citations (Scopus)


Objective. 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=4.88 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. Conclusion. Our work confirms the association of CCR6 gene and ATA+ SSc patients.

Original languageEnglish
JournalClinical and Experimental Rheumatology
Pages (from-to)31-35
Number of pages5
Publication statusPublished - 2015

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


Dive into the research topics of 'Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis'. Together they form a unique fingerprint.

Cite this