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; [Unknown] Spanish Scleroderma Group

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, [Unknown] Spanish Scleroderma Group

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

Abstract

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. 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. 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)]. 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)	1976-1981
Number of pages	5
Journal	Rheumatology
Volume	50
Issue number	11
DOIs	https://doi.org/10.1093/rheumatology/ker259
Publication status	Published - Nov 2011

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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., ... Spanish Scleroderma Group, U. (2011). Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population. Rheumatology, 50(11), 1976-1981. https://doi.org/10.1093/rheumatology/ker259

@article{af7aaf1e6fad48ab805220d162a41621,

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

abstract = "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. 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. 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)]. 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 = "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 Hoffmann-Vold, {Anna Maria} 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 and {Spanish Scleroderma Group}, [Unknown]",

year = "2011",

month = nov,

doi = "10.1093/rheumatology/ker259",

language = "English",

volume = "50",

pages = "1976--1981",

journal = "Rheumatology",

issn = "1462-0332",

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, AM, 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 & Spanish Scleroderma Group, U 2011, 'Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.', Rheumatology, vol. 50, no. 11, pp. 1976-1981. 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

AU - Spanish Scleroderma Group, [Unknown]

PY - 2011/11

Y1 - 2011/11

N2 - 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. 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. 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)]. 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 - 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. 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. 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)]. 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.

U2 - 10.1093/rheumatology/ker259

DO - 10.1093/rheumatology/ker259

M3 - Article

C2 - 21875883

SN - 1462-0332

VL - 50

SP - 1976

EP - 1981

JO - Rheumatology

JF - Rheumatology

IS - 11

ER -

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

Abstract

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