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.
Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population / L. Bossini-Castillo, C.P. Simeon, L. Beretta, M.C. Vonk, J.L. Callejas-Rubio, G. Espinosa, P. Carreira, M.T. Camps, L. Rodríguez-Rodríguez, M. Rodríguez-Carballeira, F.J. García-Hernández, F.J. López-Longo, V. Hernández-Hernández, L. Sáez-Comet, M.V. Egurbide, R. Hesselstrand, A. Nordin, A.M. Hoffmann-Vold, M. Vanthuyne, V. Smith, E. De Langhe, A. Kreuter, G. Riemekasten, T. Witte, N. Hunzelmann, A.E. Voskuyl, A.J. Schuerwegh, C. Lunardi, P. Airó, R. Scorza, P. Shiels, J.M. van Laar, C. Fonseca, C. Denton, A. Herrick, J. Worthington, B.P. Koeleman, B. Rueda, T.R. Radstake, J. Martin, Spanish Scleroderma Group. - In: RHEUMATOLOGY. - ISSN 1462-0324. - 50:11(2011 Nov), pp. 1976-1981. [10.1093/rheumatology/ker259]
Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population
R. Scorza;
2011
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.
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