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Rheumatology (Oxford). 2011 Nov;50(11):1976-81. doi: 10.1093/rheumatology/ker259. Epub 2011 Aug 28.

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

Author information

1
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.

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.

PMID:
21875883
DOI:
10.1093/rheumatology/ker259
[Indexed for MEDLINE]

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