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

被引：26

作者：

Bossini-Castillo, Lara ^{[1
]}

Simeon, Carmen P. ^{[2
]}

Beretta, Lorenzo ^{[3
,4
]}

Vonk, Madelon C. ^{[5
]}

Luis Callejas-Rubio, Jose ^{[6
]}

Espinosa, Gerard ^{[7
]}

Carreira, Patricia ^{[8
]}

Camps, Maria T. ^{[9
]}

Rodriguez-Rodriguez, Luis ^{[10
]}

Rodriguez-Carballeira, Monica ^{[11
]}

Garcia-Hernandez, Francisco J. ^{[12
]}

Lopez-Longo, Francisco J. ^{[13
]}

Hernandez-Hernandez, Vanesa ^{[14
]}

Saez-Comet, Luis ^{[15
]}

Egurbide, Maria Victoria ^{[16
]}

Hesselstrand, Roger ^{[17
]}

Nordin, Annika ^{[18
]}

Hoffmann-Vold, Anna-Maria ^{[19
]}

Vanthuyne, Marie ^{[20
]}

Smith, Vanessa ^{[21
]}

De Langhe, Ellen ^{[22
]}

Kreuter, Alexander

Riemekasten, Gabriela ^{[23
,24
]}

Witte, Torsten ^{[25
]}

Hunzelmann, Nicolas ^{[26
]}

Voskuyl, Alexandre E. ^{[27
]}

Schuerwegh, Annemie J. ^{[28
]}

Lunardi, Claudio ^{[29
]}

Airo, Paolo ^{[30
]}

Scorza, Raffaella ^{[3
,4
]}

Shiels, Paul ^{[31
]}

van Laar, Jacob M. ^{[32
]}

Fonseca, Carmen ^{[33
]}

Denton, Christopher ^{[32
]}

Herrick, Ariane ^{[34
]}

Worthington, Jane ^{[34
]}

Koeleman, Bobby P. ^{[35
]}

Rueda, Blanca ^{[36
]}

Radstake, Timothy R. D. J. ^{[5
]}

Martin, Javier

机构：

[1] CSIC, Inst Parasitol & Biomed Lopez Neyra, Consejo Super Invest Cient, Granada 18100, Spain

[2] Hosp Gen Valle Hebron, Med Interna Serv, Barcelona, Spain

[3] Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Referral Ctr System Autoimmune Dis, Milan, Italy

[4] Univ Milan, Milan, Italy

[5] Radboud Univ Nijmegen, Med Ctr, Dept Rheumatol, NL-6525 ED Nijmegen, Netherlands

[6] Hosp Clin Univ, Med Interna Serv, Granada, Spain

[7] Hosp Clin Barcelona, Serv Enfermedades Autoinmunes, Barcelona, Spain

[8] Hosp 12 Octubre, Serv Reumatol, E-28041 Madrid, Spain

[9] Hosp Carlos Haya, Med Interna Serv, Malaga, Spain

[10] Hosp Clin San Carlos, Serv Reumatol, Madrid, Spain

[11] Hosp Univ Mutua Terrasa, Med Interna Serv, Barcelona, Spain

[12] Hosp Virgen del Rocio, Med Interna Serv, Seville, Spain

[13] Hosp Gen Univ Gregorio Maranon, Serv Reumatol, Madrid, Spain

[14] Hosp Univ Canarias, Serv Reumatol, Tenerife, Spain

[15] Hosp Univ Miguel Servet, Med Interna Serv, Zaragoza, Spain

[16] Hosp Cruces, Med Interna Serv, Baracaldo, Spain

[17] Lund Univ, Dept Rheumatol, Lund, Sweden

[18] Karolinska Inst, Stockholm, Sweden

[19] Oslo Univ Hosp, Dept Rheumatol, Rikshosp, Oslo, Norway

[20] Catholic Univ Louvain, Clin Univ St Luc, Dept Rheumatol, B-1200 Brussels, Belgium

[21] Univ Ghent, Dept Rheumatol, B-9000 Ghent, Belgium

[22] Katholieke Univ Leuven, Dept Rheumatol, Louvain, Belgium

[23] Ruhr Univ Bochum, Dept Dermatol Venereol & Allergol, Bochum, Germany

[24] Charite, Dept Rheumatol & Clin Immunol, Berlin, Germany

[25] Hannover Med Sch, D-3000 Hannover, Germany

[26] Univ Cologne, Dept Dermatol, D-5000 Cologne, Germany

[27] Vrije Univ Amsterdam Med Ctr, Dept Rheumatol, Amsterdam, Netherlands

[28] Leiden Univ, Med Ctr, Dept Rheumatol, Leiden, Netherlands

[29] Univ Verona, Dept Med, I-37100 Verona, Italy

[30] Spedali Civil Brescia, Serv Reumatol Immunol Clin, Brescia, Italy

[31] Univ Glasgow, Div Canc Sci & Mol Pathol, Dept Surg, Glasgow, Lanark, Scotland

[32] Newcastle Univ, James Cook Univ Hosp, Middlesbrough & Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[33] Royal Free & Univ Coll, Sch Med, Ctr Rheumatol, London, England

[34] Univ Manchester, Arthrit Res UK Epidemiol Unit, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[35] Univ Med Ctr Utrecht, Sect Complex Genet, Dept Med Genet, Utrecht, Netherlands

[36] Univ Granada, Escuela Univ Ciencias Salud, Granada, Spain

来源：

RHEUMATOLOGY | 2011年 / 50卷 / 11期

关键词：

Systemic sclerosis; Scleroderma; Macrophage migration inhibitory factor; Polymorphisms; INFLAMMATORY-BOWEL-DISEASE; POLYMORPHISMS; MIF; SUSCEPTIBILITY; SCLERODERMA; EXPRESSION; ARTHRITIS;

D O I：

10.1093/rheumatology/ker259

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1976 / 1981

页数：6

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