Ochoa, E., Martin, J. -E., Assassi, S., Beretta, L., Carreira, P., Guillen, A., Simeon, C. P., Koumakis, E., Dieude, P., Allanore, Y., Garcia-Hernandez, F. J., Espinosa, G., Castellvi, I., Trapiella, J. L., Rodriguez, L., Gonzalez-Gay, M. A., Egurbide, M. V., Saez, 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. (2015). Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis. Clin. Exp. Rheumatol., 33 (4). S. S31 - 5. PISA: CLINICAL & EXPER RHEUMATOLOGY. ISSN 1593-098X

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ochoa, E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, J. -E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Assassi, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carreira, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guillen, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simeon, C. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koumakis, E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dieude, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Allanore, Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Hernandez, F. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Espinosa, G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castellvi, I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trapiella, J. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Gay, M. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Egurbide, M. V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saez, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Callejas-Rubio, J. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vargas-Hitos, J. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riemekasten, G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Distler, J. H. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santaniello, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tan, F. K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shiels, P. G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrick, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Worthington, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vonk, M. C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, B. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, T. R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayes, M. D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-399176
Journal or Publication Title: Clin. Exp. Rheumatol.
Volume: 33
Number: 4
Page Range: S. S31 - 5
Date: 2015
Publisher: CLINICAL & EXPER RHEUMATOLOGY
Place of Publication: PISA
ISSN: 1593-098X
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; REGULATORY VARIANT; SUSCEPTIBILITY; SCLERODERMA; CLASSIFICATION; DISEASE; LOCUS; CELLSMultiple languages
RheumatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/39917

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