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

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.

 Fuente: Clinical and Experimental Rheumatology, 2015, 33(S91), S31-S35

 Editorial: Clinical and Experimental Rheumatology

 Año de publicación: 2015

 Nº de páginas: 5

 Tipo de publicación: Artículo de Revista

 ISSN: 0392-856X,1593-098X

Autoría

OCHOA, EGUZKINE

MARTÍN, JOSÉ EZEQUIEL

ASSASSI, SHERVIN

BERETTA, LORENZO

CARREIRA, PATRICIA

GUILLÉN, ALFREDO

SIMEÓN, CARMEN PILAR

KOUMAKIS, EUGÉNIE

DIEUDE, PHILIPPE

ALLANORE, YANNICK

GARCÍA HERNÁNDEZ, FRANCISCO J.

ESPINOSA, GERARD

CASTELLVÍ, IVAN

TRAPIELLA, JOSÉ LUIS

EGURBIDE, MARÍA VICTORIA

SÁEZ, LUIS

CALLEJAS RUBIO, JOSE LUIS

VARGAS HITOS, JOSE ANTONIO