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

Lara Bossini-Castillo; Carmen P Simeon; Lorenzo Beretta; Madelon C Vonk; José Luis Callejas-Rubio; Gerard Espinosa; Patricia Carreira; María T Camps; Luis Rodríguez-Rodríguez; Mónica Rodríguez-Carballeira; Francisco J García-Hernández; Francisco J López-Longo; Vanesa Hernández-Hernández; Luis Sáez-Comet; María Victoria Egurbide; Roger Hesselstrand; Annika Nordin; Anna-Maria Hoffmann-Vold; Marie Vanthuyne; Vanessa Smith; Ellen De Langhe; Alexander Kreuter; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexandre E Voskuyl; Annemie J Schuerwegh; Claudio Lunardi; Paolo Airó; Raffaella Scorza; Paul Shiels; Jacob M van Laar; Carmen Fonseca; Christopher Denton; Ariane Herrick; Jane Worthington; Bobby P Koeleman; Blanca Rueda; Timothy R D J Radstake; Javier Martin

doi:10.1093/rheumatology/ker259

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

Lara Bossini-Castillo, Carmen P Simeon, Lorenzo Beretta, Madelon C Vonk, José Luis Callejas-Rubio, Gerard Espinosa, Patricia Carreira, María T Camps, Luis Rodríguez-Rodríguez, Mónica Rodríguez-Carballeira, Francisco J García-Hernández, Francisco J López-Longo, Vanesa Hernández-Hernández, Luis Sáez-Comet, María Victoria Egurbide, Roger Hesselstrand, Annika Nordin, Anna-Maria Hoffmann-Vold, Marie Vanthuyne, Vanessa SmithEllen De Langhe, Alexander Kreuter, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexandre E Voskuyl, Annemie J Schuerwegh, Claudio Lunardi, Paolo Airó, Raffaella Scorza, Paul Shiels, Jacob M van Laar, Carmen Fonseca, Christopher Denton, Ariane Herrick, Jane Worthington, Bobby P Koeleman, Blanca Rueda, Timothy R D J Radstake, Javier Martin,

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	1976-81
Number of pages	6
Journal	Rheumatology (Oxford, England)
Volume	50
Issue number	11
DOIs	https://doi.org/10.1093/rheumatology/ker259
Publication status	Published - Nov 2011

Keywords

Case-Control Studies
Genetic Markers
Genetic Predisposition to Disease
Genotype
Humans
Macrophage Migration-Inhibitory Factors
Odds Ratio
Polymorphism, Single Nucleotide
Scleroderma, Systemic
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't

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10.1093/rheumatology/ker259

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Bossini-Castillo, L., Simeon, C. P., Beretta, L., Vonk, M. C., Callejas-Rubio, J. L., Espinosa, G., Carreira, P., Camps, M. T., Rodríguez-Rodríguez, L., Rodríguez-Carballeira, M., García-Hernández, F. J., López-Longo, F. J., Hernández-Hernández, V., Sáez-Comet, L., Egurbide, M. V., Hesselstrand, R., Nordin, A., Hoffmann-Vold, A.-M., Vanthuyne, M. (2011). Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population. Rheumatology (Oxford, England), 50(11), 1976-81. https://doi.org/10.1093/rheumatology/ker259

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title = "Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population",

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.",

keywords = "Case-Control Studies, Genetic Markers, Genetic Predisposition to Disease, Genotype, Humans, Macrophage Migration-Inhibitory Factors, Odds Ratio, Polymorphism, Single Nucleotide, Scleroderma, Systemic, Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't",

author = "Lara Bossini-Castillo and Simeon, {Carmen P} and Lorenzo Beretta and Vonk, {Madelon C} and Callejas-Rubio, {Jos{\'e} Luis} and Gerard Espinosa and Patricia Carreira and Camps, {Mar{\'i}a T} and Luis Rodr{\'i}guez-Rodr{\'i}guez and M{\'o}nica Rodr{\'i}guez-Carballeira and Garc{\'i}a-Hern{\'a}ndez, {Francisco J} and L{\'o}pez-Longo, {Francisco J} and Vanesa Hern{\'a}ndez-Hern{\'a}ndez and Luis S{\'a}ez-Comet and Egurbide, {Mar{\'i}a Victoria} and Roger Hesselstrand and Annika Nordin and Anna-Maria Hoffmann-Vold and Marie Vanthuyne and Vanessa Smith and {De Langhe}, Ellen and Alexander Kreuter and Gabriela Riemekasten and Torsten Witte and Nicolas Hunzelmann and Voskuyl, {Alexandre E} and Schuerwegh, {Annemie J} and Claudio Lunardi and Paolo Air{\'o} and Raffaella Scorza and Paul Shiels and {van Laar}, {Jacob M} and Carmen Fonseca and Christopher Denton and Ariane Herrick and Jane Worthington and Koeleman, {Bobby P} and Blanca Rueda and Radstake, {Timothy R D J} and Javier Martin",

year = "2011",

month = nov,

doi = "10.1093/rheumatology/ker259",

language = "English",

volume = "50",

pages = "1976--81",

journal = "Rheumatology (Oxford, England)",

issn = "1462-0324",

publisher = "Oxford University Press",

number = "11",

}

Bossini-Castillo, L, Simeon, CP, Beretta, L, Vonk, MC, Callejas-Rubio, JL, Espinosa, G, Carreira, P, Camps, MT, Rodríguez-Rodríguez, L, Rodríguez-Carballeira, M, García-Hernández, FJ, López-Longo, FJ, Hernández-Hernández, V, Sáez-Comet, L, Egurbide, MV, Hesselstrand, R, Nordin, A, Hoffmann-Vold, A-M, Vanthuyne, M, Smith, V, De Langhe, E, Kreuter, A, Riemekasten, G, Witte, T, Hunzelmann, N, Voskuyl, AE, Schuerwegh, AJ, Lunardi, C, Airó, P, Scorza, R, Shiels, P, van Laar, JM, Fonseca, C, Denton, C, Herrick, A, Worthington, J, Koeleman, BP, Rueda, B, Radstake, TRDJ, Martin, J 2011, 'Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population', Rheumatology (Oxford, England), vol. 50, no. 11, pp. 1976-81. https://doi.org/10.1093/rheumatology/ker259

TY - JOUR

T1 - Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population

AU - Bossini-Castillo, Lara

AU - Simeon, Carmen P

AU - Beretta, Lorenzo

AU - Vonk, Madelon C

AU - Callejas-Rubio, José Luis

AU - Espinosa, Gerard

AU - Carreira, Patricia

AU - Camps, María T

AU - Rodríguez-Rodríguez, Luis

AU - Rodríguez-Carballeira, Mónica

AU - García-Hernández, Francisco J

AU - López-Longo, Francisco J

AU - Hernández-Hernández, Vanesa

AU - Sáez-Comet, Luis

AU - Egurbide, María Victoria

AU - Hesselstrand, Roger

AU - Nordin, Annika

AU - Hoffmann-Vold, Anna-Maria

AU - Vanthuyne, Marie

AU - Smith, Vanessa

AU - De Langhe, Ellen

AU - Kreuter, Alexander

AU - Riemekasten, Gabriela

AU - Witte, Torsten

AU - Hunzelmann, Nicolas

AU - Voskuyl, Alexandre E

AU - Schuerwegh, Annemie J

AU - Lunardi, Claudio

AU - Airó, Paolo

AU - Scorza, Raffaella

AU - Shiels, Paul

AU - van Laar, Jacob M

AU - Fonseca, Carmen

AU - Denton, Christopher

AU - Herrick, Ariane

AU - Worthington, Jane

AU - Koeleman, Bobby P

AU - Rueda, Blanca

AU - Radstake, Timothy R D J

AU - Martin, Javier

PY - 2011/11

Y1 - 2011/11

N2 - 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.

AB - 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.

KW - Case-Control Studies

KW - Genetic Markers

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Humans

KW - Macrophage Migration-Inhibitory Factors

KW - Odds Ratio

KW - Polymorphism, Single Nucleotide

KW - Scleroderma, Systemic

KW - Journal Article

KW - Meta-Analysis

KW - Research Support, Non-U.S. Gov't

U2 - 10.1093/rheumatology/ker259

DO - 10.1093/rheumatology/ker259

M3 - Article

C2 - 21875883

SN - 1462-0324

VL - 50

SP - 1976

EP - 1981

JO - Rheumatology (Oxford, England)

JF - Rheumatology (Oxford, England)

IS - 11

ER -

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

Abstract

Keywords

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