Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Simeon, Carmen P., Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Vonk, Madelon C., Luis Callejas-Rubio, Jose, Espinosa, Gerard ORCID: 0000-0003-1336-0163, Carreira, Patricia, Camps, Maria T., Rodriguez-Rodriguez, Luis ORCID: 0000-0002-2869-7861, Rodriguez-Carballeira, Monica, Garcia-Hernandez, Francisco J., Lopez-Longo, Francisco J., Hernandez-Hernandez, Vanesa, Saez-Comet, Luis, Egurbide, Maria Victoria, Hesselstrand, Roger, Nordin, Annika ORCID: 0000-0003-1976-4679, Hoffmann-Vold, Anna-Maria, Vanthuyne, Marie, Smith, Vanessa, De Langhe, Ellen, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Voskuyl, Alexandre E., Schuerwegh, Annemie J., Lunardi, Claudio, Airo, Paolo, Scorza, Raffaella, Shiels, Paul ORCID: 0000-0002-7577-9843, van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher, Herrick, Ariane ORCID: 0000-0003-4941-7926, Worthington, Jane ORCID: 0000-0003-0544-042X, Koeleman, Bobby P., Rueda, Blanca, Radstake, Timothy R. D. J. and Martin, Javier ORCID: 0000-0002-2202-0622 (2011). Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population. RHEUMATOLOGY, 50 (11). S. 1976 - 1982. OXFORD: OXFORD UNIV PRESS. ISSN 1462-0324

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Bossini-Castillo, LaraUNSPECIFIEDorcid.org/0000-0002-5471-5824UNSPECIFIED
Simeon, Carmen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Vonk, Madelon C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luis Callejas-Rubio, JoseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Espinosa, GerardUNSPECIFIEDorcid.org/0000-0003-1336-0163UNSPECIFIED
Carreira, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Camps, Maria T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez-Rodriguez, LuisUNSPECIFIEDorcid.org/0000-0002-2869-7861UNSPECIFIED
Rodriguez-Carballeira, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Hernandez, Francisco J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Longo, Francisco J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez-Hernandez, VanesaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saez-Comet, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Egurbide, Maria VictoriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hesselstrand, RogerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordin, AnnikaUNSPECIFIEDorcid.org/0000-0003-1976-4679UNSPECIFIED
Hoffmann-Vold, Anna-MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vanthuyne, MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smith, VanessaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Langhe, EllenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riemekasten, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuyl, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuerwegh, Annemie J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scorza, RaffaellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shiels, PaulUNSPECIFIEDorcid.org/0000-0002-7577-9843UNSPECIFIED
van Laar, Jacob M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonseca, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denton, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrick, ArianeUNSPECIFIEDorcid.org/0000-0003-4941-7926UNSPECIFIED
Worthington, JaneUNSPECIFIEDorcid.org/0000-0003-0544-042XUNSPECIFIED
Koeleman, Bobby P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rueda, BlancaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-486373
DOI: 10.1093/rheumatology/ker259
Journal or Publication Title: RHEUMATOLOGY
Volume: 50
Number: 11
Page Range: S. 1976 - 1982
Date: 2011
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1462-0324
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
INFLAMMATORY-BOWEL-DISEASE; POLYMORPHISMS; MIF; SUSCEPTIBILITY; SCLERODERMA; EXPRESSION; ARTHRITISMultiple languages
RheumatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48637

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