TY - JOUR
T1 - Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
AU - Bossini-Castillo, Lara
AU - Simeon, Carmen P.
AU - Beretta, Lorenzo
AU - Vonk, Madelon C.
AU - Callejas-Rubio, José Luis
AU - Espinosa, Gerard
AU - Carreira, Patricia
AU - Camps, María T.
AU - Rodríguez-Rodríguez, Luis
AU - Rodríguez-Carballeira, Mónica
AU - García-Hernández, Francisco J.
AU - López-Longo, Francisco J.
AU - Hernández-Hernández, Vanesa
AU - Sáez-Comet, Luis
AU - Egurbide, María Victoria
AU - Hesselstrand, Roger
AU - Nordin, Annika
AU - Hoffmann-Vold, Anna Maria
AU - Vanthuyne, Marie
AU - Smith, Vanessa
AU - De Langhe, Ellen
AU - Kreuter, Alexander
AU - Riemekasten, Gabriela
AU - Witte, Torsten
AU - Hunzelmann, Nicolas
AU - Voskuyl, Alexandre E.
AU - Schuerwegh, Annemie J.
AU - Lunardi, Claudio
AU - Airó, Paolo
AU - Scorza, Raffaella
AU - Shiels, Paul
AU - van Laar, Jacob M.
AU - Fonseca, Carmen
AU - Denton, Christopher
AU - Herrick, Ariane
AU - Worthington, Jane
AU - Koeleman, Bobby P.
AU - Rueda, Blanca
AU - Radstake, Timothy R.D.J.
AU - Martin, Javier
N1 - Funding Information:
Funding: This work was supported by the following grants. J.M.V.L. was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, and in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain, and VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). J.M.V.L. and T.R.D.J.R. were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). T.W. was granted by DFG WI 1031/6.1.
Copyright:
This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
PY - 2011/11
Y1 - 2011/11
N2 - The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population. A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight different European countries were included in the study. The MIF -173 single nucleotide polymorphism (SNP) was selected as genetic marker and genotyped using Taqman 5' allelic discrimination assay. The MIF -173 SNP showed association with SSc [P = 0.04, odds ratio (OR) = 1.10, 95% CI 1.00, 1.19]. Analysis of the MIF -173 polymorphism according to SSc clinical phenotype revealed that the frequency of the -173*C allele was significantly higher in the dcSSc group compared with controls (P = 5.30E-03, OR = 1.21, 95% CI 1.07, 1.38). Conversely, the frequency of the MIF -173*C allele was significantly underrepresented in the lcSSc group compared with dcSSc patients, supporting previous findings [(P = 0.04, OR = 0.86, 95% CI 0.75, 0.99); meta-analysis including previous results (P = 0.005, OR = 0.83, 95% CI 0.73, 0.94)]. Our results confirm the role of MIF -173 promoter polymorphism in SSc, and provide evidence of a strong association with the dcSSc subgroup of patients. Hence, the MIF -173 variant is confirmed as a promising clinical phenotype genetic marker.
AB - The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population. A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight different European countries were included in the study. The MIF -173 single nucleotide polymorphism (SNP) was selected as genetic marker and genotyped using Taqman 5' allelic discrimination assay. The MIF -173 SNP showed association with SSc [P = 0.04, odds ratio (OR) = 1.10, 95% CI 1.00, 1.19]. Analysis of the MIF -173 polymorphism according to SSc clinical phenotype revealed that the frequency of the -173*C allele was significantly higher in the dcSSc group compared with controls (P = 5.30E-03, OR = 1.21, 95% CI 1.07, 1.38). Conversely, the frequency of the MIF -173*C allele was significantly underrepresented in the lcSSc group compared with dcSSc patients, supporting previous findings [(P = 0.04, OR = 0.86, 95% CI 0.75, 0.99); meta-analysis including previous results (P = 0.005, OR = 0.83, 95% CI 0.73, 0.94)]. Our results confirm the role of MIF -173 promoter polymorphism in SSc, and provide evidence of a strong association with the dcSSc subgroup of patients. Hence, the MIF -173 variant is confirmed as a promising clinical phenotype genetic marker.
UR - http://www.scopus.com/inward/record.url?scp=84855185868&partnerID=8YFLogxK
U2 - 10.1093/rheumatology/ker259
DO - 10.1093/rheumatology/ker259
M3 - Journal articles
C2 - 21875883
AN - SCOPUS:84855185868
SN - 1462-0324
VL - 50
SP - 1976
EP - 1981
JO - Rheumatology (Oxford, England)
JF - Rheumatology (Oxford, England)
IS - 11
ER -
