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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: Clin Exp Rheumatol. 2015 Jul-Aug;33(4 Suppl 91):S31-5.
Editorial: Clinical and Experimental Rheumatology
Año de publicación: 2015
Nº de páginas: 5
Tipo de publicación: Artículo de Revista
MARTÍN, JOSÉ EZEQUIEL
SIMEÓN, CARMEN PILAR
GARCÍA HERNÁNDEZ, FRANCISCO J.
TRAPIELLA, JOSÉ LUIS
MIGUEL ANGEL GONZALEZ-GAY MANTECON
EGURBIDE, MARÍA VICTORIA
CALLEJAS RUBIO, JOSE LUIS
VARGAS HITOS, JOSE ANTONIO