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

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26 Citations (SciVal)


Objectives. 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.Methods. 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.Results. 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)].Conclusion. 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
JournalRheumatology (Oxford, England)
Publication statusPublished - 2011

Subject classification (UKÄ)

  • Rheumatology and Autoimmunity


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