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

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.

Simeon, Carmen P (author)
Beretta, Lorenzo (author)
Vonk, Madelon C (author)
Callejas-Rubio, José Luis (author)
Espinosa, Gerard (author)
Carreira, Patricia (author)
Camps, María T (author)
Rodríguez-Rodríguez, Luis (author)
Rodríguez-Carballeira, Mónica (author)
García-Hernández, Francisco J (author)
López-Longo, Francisco J (author)
Hernández-Hernández, Vanesa (author)
Sáez-Comet, Luis (author)
Egurbide, María Victoria (author)
Hesselstrand, RogerLund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)reum-rhe (author)
Nordin, AnnikaKarolinska Institutet (author)
Hoffmann-Vold, Anna-Maria (author)
Vanthuyne, Marie (author)
Smith, Vanessa (author)
De Langhe, Ellen (author)
Kreuter, Alexander (author)
Riemekasten, Gabriela (author)
Witte, Torsten (author)
Hunzelmann, Nicolas (author)
Voskuyl, Alexandre E (author)
Schuerwegh, Annemie J (author)
Lunardi, Claudio (author)
Airó, Paolo (author)
Scorza, Raffaella (author)
Shiels, Paul (author)
van Laar, Jacob M (author)
Fonseca, Carmen (author)
Denton, Christopher (author)
Herrick, Ariane (author)
Worthington, Jane (author)
Koeleman, Bobby P (author)
Rueda, Blanca (author)
Radstake, Timothy R D J (author)
Martin, Javier (author)
Reumatologi och molekylär skelettbiologiSektion III (creator_code:org_t)

In:Rheumatology (Oxford, England): Oxford University Press (OUP)50, s. 1976-19811462-03321462-0324

By the author/editor: Bossini-Castillo ...; Simeon, Carmen P; Beretta, Lorenzo; Vonk, Madelon C; Callejas-Rubio, ...; Espinosa, Gerard; show more...; Carreira, Patric ...; Camps, María T; Rodríguez-Rodríg ...; Rodríguez-Carbal ...; García-Hernández ...; López-Longo, Fra ...; Hernández-Hernán ...; Sáez-Comet, Luis; Egurbide, María ...; Hesselstrand, Ro ...; Nordin, Annika; Hoffmann-Vold, A ...; Vanthuyne, Marie; Smith, Vanessa; De Langhe, Ellen; Kreuter, Alexand ...; Riemekasten, Gab ...; Witte, Torsten; Hunzelmann, Nico ...; Voskuyl, Alexand ...; Schuerwegh, Anne ...; Lunardi, Claudio; Airó, Paolo; Scorza, Raffaell ...; Shiels, Paul; van Laar, Jacob ...; Fonseca, Carmen; Denton, Christop ...; Herrick, Ariane; Worthington, Jan ...; Koeleman, Bobby ...; Rueda, Blanca; Radstake, Timoth ...; Martin, Javier; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Rheumatology and ...

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