title: Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
abstract: OBJECTIVE
  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)].
  
  
  CONCLUSIONS
  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.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
authors.forename: Lara
authors.initials: L
authors.lastname: Bossini-Castillo
authors.forename: Carmen P
authors.initials: CP
authors.lastname: Simeon
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Beretta
authors.forename: Madelon C
authors.initials: MC
authors.lastname: Vonk
authors.forename: José Luis
authors.initials: JL
authors.lastname: Callejas-Rubio
authors.forename: Gerard
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authors.lastname: Espinosa
authors.forename: Patricia
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authors.forename: María T
authors.initials: MT
authors.lastname: Camps
authors.forename: Luis
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authors.lastname: Rodríguez-Rodríguez
authors.forename: Mónica
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authors.lastname: Rodríguez-Carballeira
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: García-Hernández
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: López-Longo
authors.forename: Vanesa
authors.initials: V
authors.lastname: Hernández-Hernández
authors.forename: Luis
authors.initials: L
authors.lastname: Sáez-Comet
authors.forename: María Victoria
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authors.lastname: Egurbide
authors.forename: Roger
authors.initials: R
authors.lastname: Hesselstrand
authors.forename: Annika
authors.initials: A
authors.lastname: Nordin
authors.forename: Anna-Maria
authors.initials: AM
authors.lastname: Hoffmann-Vold
authors.forename: Marie
authors.initials: M
authors.lastname: Vanthuyne
authors.forename: Vanessa
authors.initials: V
authors.lastname: Smith
authors.forename: Ellen
authors.initials: E
authors.lastname: De Langhe
authors.forename: Alexander
authors.initials: A
authors.lastname: Kreuter
authors.forename: Gabriela
authors.initials: G
authors.lastname: Riemekasten
authors.forename: Torsten
authors.initials: T
authors.lastname: Witte
authors.forename: Nicolas
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authors.lastname: Hunzelmann
authors.forename: Alexandre E
authors.initials: AE
authors.lastname: Voskuyl
authors.forename: Annemie J
authors.initials: AJ
authors.lastname: Schuerwegh
authors.forename: Claudio
authors.initials: C
authors.lastname: Lunardi
authors.forename: Paolo
authors.initials: P
authors.lastname: Airó
authors.forename: Raffaella
authors.initials: R
authors.lastname: Scorza
authors.forename: Paul
authors.initials: P
authors.lastname: Shiels
authors.forename: Jacob M
authors.initials: JM
authors.lastname: van Laar
authors.forename: Carmen
authors.initials: C
authors.lastname: Fonseca
authors.forename: Christopher
authors.initials: C
authors.lastname: Denton
authors.forename: Ariane
authors.initials: A
authors.lastname: Herrick
authors.forename: Jane
authors.initials: J
authors.lastname: Worthington
authors.forename: Bobby P
authors.initials: BP
authors.lastname: Koeleman
authors.forename: Blanca
authors.initials: B
authors.lastname: Rueda
authors.forename: Timothy R D J
authors.initials: TR
authors.lastname: Radstake
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
mesh_terms: D016022:Case-Control Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008263:Macrophage Migration-Inhibitory Factors / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000097:blood / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D008263:Macrophage Migration-Inhibitory Factors