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

^*Corresponding author for this work

Clinic of Rheumatology

Institute of Parasitology and Biomedicine López-Neyra

24 Citations (Scopus)

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
Journal	Rheumatology (Oxford, England)
Volume	50
Issue number	11
Pages (from-to)	1976-1981
Number of pages	6
ISSN	1462-0324
DOIs	https://doi.org/10.1093/rheumatology/ker259
Publication status	Published - 11.2011

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Academic Focus: Center for Infection and Inflammation Research (ZIEL)

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

@article{cf043ec99e954115b463b2829fe29cf4,

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",

note = "Funding Information: Funding: This work was supported by the following grants. J.M.V.L. was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andaluc{\'i}a, Spain, and in part by Redes Tem{\'a}ticas de Investigaci{\'o}n Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain, and VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). J.M.V.L. and T.R.D.J.R. were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). T.W. was granted by DFG WI 1031/6.1. Copyright: This record is sourced from MEDLINE{\textregistered}/PubMed{\textregistered}, a database of the U.S. National Library of Medicine",

year = "2011",

month = nov,

doi = "10.1093/rheumatology/ker259",

language = "English",

volume = "50",

pages = "1976--1981",

journal = "Rheumatology (Oxford, England)",

issn = "1462-0324",

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 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. 1976-1981. 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

N1 - Funding Information: Funding: This work was supported by the following grants. J.M.V.L. was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, and in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain, and VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). J.M.V.L. and T.R.D.J.R. were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). T.W. was granted by DFG WI 1031/6.1. Copyright: This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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.

UR - http://www.scopus.com/inward/record.url?scp=84855185868&partnerID=8YFLogxK

U2 - 10.1093/rheumatology/ker259

DO - 10.1093/rheumatology/ker259

M3 - Journal articles

C2 - 21875883

AN - SCOPUS:84855185868

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.

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