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

Lookup NU author(s): Professor Jaap Van Laar


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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.

Publication metadata

Author(s): Bossini-Castillo L, Simeon CP, Beretta L, Vonk MC, Callejas-Rubio JL, Espinosa G, Carreira P, Camps MT, Rodriguez-Rodriguez L, Rodriguez-Carballeira M, Garcia-Hernandez FJ, Lopez-Longo FJ, Hernandez-Hernandez V, Saez-Comet L, Egurbide MV, Hesselstrand R, Nordin A, Hoffmann-Vold AM, Vanthuyne M, Smith V, De Langhe E, Kreuter A, Riemekasten G, Witte T, Hunzelmann N, Voskuyl AE, Schuerwegh AJ, Lunardi C, Airo P, Scorza R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Koeleman BP, Rueda B, Radstake TRDJ, Martin J, Spanish Scleroderma Grp

Publication type: Article

Publication status: Published

Journal: Rheumatology

Year: 2011

Volume: 50

Issue: 11

Pages: 1976-1981

Print publication date: 28/08/2011

ISSN (print): 1462-0324

ISSN (electronic): 1462-0332

Publisher: Oxford University Press


DOI: 10.1093/rheumatology/ker259


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Funder referenceFunder name
Dutch Arthritis Foundation (National Reumafonds)
Dutch Association of Research (NWO)
European League Against Rheumatism (EULAR)
Redes Tematicas de Investigacion Cooperativa Sanitaria Program
Spanish Society of Rheumatology
CTS-4977Junta de Andalucia, Spain
RD08/0075 (RIER)Instituto de Salud Carlos III (ISCIII), Spain
SAF2009-11110Spanish Ministry of Science
WI 1031/6.1DFG