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Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis.
Ochoa, Eguzkine; Martin, Jose-Ezequiel; Assasi, Shervin; Beretta, Lorenzo; Carreira, Patricia; GuillĂ©n, Alfredo; SimeĂłn, Carmen Pilar; Koumakis, Eugenie; Dieude, Philippe; Allanore, Yannick; GarcĂa-Hernández, Francisco J; Espinosa, Gerard; CastellvĂ, Ivan; Trapiella, Jose Luis; Rodriguez, Luis; González-Gay, Miguel Angel; Egurbide, Maria Victoria; Sáez, Luis; Callejas-Rubio, Jose Luis; Vargas-Hitos, Jose Antonio; Hunzelmann, Nicolas; Riemekasten, Gabriela; Witte, Torsten; Distler, Jörg H W; Kreuter, Alexander; Lunardi, Claudio; Santaniello, Alessandro; Tan, Filemon K; Shiels, Paul G; Herrick, Ariane; Worthington, Jane; Vonk, Madelon C; Koeleman, Bobby P; Radstake, Timothy R D J; Mayes, Maureen D; Martin, Javier; The Spanish Scleroderma Group, And
Clinical and experimental rheumatology. 2015;33 Suppl 91(4):31-5.
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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=4.88 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. CONCLUSIONS: Our work confirms the association of CCR6 gene and ATA+ SSc patients.
Bibliographic metadata
- Ochoa, Eguzkine
- Martin, Jose-Ezequiel
- Assasi, Shervin
- Beretta, Lorenzo
- Carreira, Patricia
- Guillén, Alfredo
- SimeĂłn, Carmen Pilar
- Koumakis, Eugenie
- Dieude, Philippe
- Allanore, Yannick
- GarcĂa-Hernández, Francisco J
- Espinosa, Gerard
- CastellvĂ, Ivan
- Trapiella, Jose Luis
- Rodriguez, Luis
- González-Gay, Miguel Angel
- Egurbide, Maria Victoria
- Sáez, Luis
- Callejas-Rubio, Jose Luis
- Vargas-Hitos, Jose Antonio
- Hunzelmann, Nicolas
- Riemekasten, Gabriela
- Witte, Torsten
- Distler, Jörg H W
- Kreuter, Alexander
- Lunardi, Claudio
- Santaniello, Alessandro
- Tan, Filemon K
- Shiels, Paul G
- Herrick, Ariane
- Worthington, Jane
- Vonk, Madelon C
- Koeleman, Bobby P
- Radstake, Timothy R D J
- Mayes, Maureen D
- Martin, Javier
- The Spanish Scleroderma Group, And