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

Bossini-Castillo, Lara ; Simeon, Carmen P ; Beretta, Lorenzo ; Vonk, Madelon C ; Callejas-Rubio, José Luis ; Espinosa, Gerard ; Carreira, Patricia ; Camps, María T ; Rodríguez-Rodríguez, Luis and Rodríguez-Carballeira, Mónica , et al. (2011) In Rheumatology (Oxford, England) 50. p.1976-1981
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... (More)
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. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Rheumatology (Oxford, England)
volume
50
pages
1976 - 1981
publisher
Oxford University Press
external identifiers
  • wos:000296295800009
  • pmid:21875883
  • scopus:84855185868
  • pmid:21875883
ISSN
1462-0332
DOI
10.1093/rheumatology/ker259
language
English
LU publication?
yes
id
180847c8-04df-441e-9f44-0df943e887bd (old id 2169320)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21875883?dopt=Abstract
date added to LUP
2016-04-04 09:33:03
date last changed
2022-04-08 03:36:13
@article{180847c8-04df-441e-9f44-0df943e887bd,
  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.}},
  author       = {{Bossini-Castillo, Lara and Simeon, Carmen P and Beretta, Lorenzo and Vonk, Madelon C and Callejas-Rubio, José Luis and Espinosa, Gerard and Carreira, Patricia and Camps, María T and Rodríguez-Rodríguez, Luis and Rodríguez-Carballeira, Mónica and García-Hernández, Francisco J and López-Longo, Francisco J and Hernández-Hernández, Vanesa and Sáez-Comet, Luis and Egurbide, María Victoria and Hesselstrand, Roger and Nordin, Annika and Hoffmann-Vold, Anna-Maria and Vanthuyne, Marie and Smith, Vanessa and De Langhe, Ellen and Kreuter, Alexander and Riemekasten, Gabriela and Witte, Torsten and Hunzelmann, Nicolas and Voskuyl, Alexandre E and Schuerwegh, Annemie J and Lunardi, Claudio and Airó, Paolo and Scorza, Raffaella and Shiels, Paul and van Laar, Jacob M and Fonseca, Carmen and Denton, Christopher and Herrick, Ariane and Worthington, Jane and Koeleman, Bobby P and Rueda, Blanca and Radstake, Timothy R D J and Martin, Javier}},
  issn         = {{1462-0332}},
  language     = {{eng}},
  pages        = {{1976--1981}},
  publisher    = {{Oxford University Press}},
  series       = {{Rheumatology (Oxford, England)}},
  title        = {{Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.}},
  url          = {{http://dx.doi.org/10.1093/rheumatology/ker259}},
  doi          = {{10.1093/rheumatology/ker259}},
  volume       = {{50}},
  year         = {{2011}},
}