Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.

Lara Bossini-Castillo, Carmen P. Simeon, Lorenzo Beretta, Madelon C. Vonk, José Luis Callejas-Rubio, Gerard Espinosa, Patricia Carreira, María T. Camps, Luis Rodríguez-Rodríguez, Mónica Rodríguez-Carballeira, Francisco J. García-Hernández, Francisco J. López-Longo, Vanesa Hernández-Hernández, Luis Sáez-Comet, María Victoria Egurbide, Roger Hesselstrand, Annika Nordin, Anna Maria Hoffmann-Vold, Marie Vanthuyne, Vanessa SmithEllen De Langhe, Alexander Kreuter, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Claudio Lunardi, Paolo Airó, Raffaella Scorza, Paul Shiels, Jacob M. van Laar, Carmen Fonseca, Christopher Denton, Ariane Herrick, Jane Worthington, Bobby P. Koeleman, Blanca Rueda, Timothy R D J Radstake, Javier Martin, Scleroderma Group Spanish Scleroderma Group

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1976-1981
Number of pages6
JournalRheumatology
Volume50
Issue number11
Publication statusPublished - Nov 2011

ASJC Scopus subject areas

  • Medicine(all)

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    Bossini-Castillo, L., Simeon, C. P., Beretta, L., Vonk, M. C., Callejas-Rubio, J. L., Espinosa, G., Carreira, P., Camps, M. T., Rodríguez-Rodríguez, L., Rodríguez-Carballeira, M., García-Hernández, F. J., López-Longo, F. J., Hernández-Hernández, V., Sáez-Comet, L., Egurbide, M. V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A. M., Vanthuyne, M., ... Spanish Scleroderma Group, S. G. (2011). Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population. Rheumatology, 50(11), 1976-1981.