A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

被引：26

作者：

Bossini-Castillo, Lara ^{[1
]}

Simeon, Carmen P. ^{[2
]}

Beretta, Lorenzo ^{[3
,4
]}

Broen, Jasper C. ^{[5
]}

Vonk, Madelon C. ^{[5
]}

Rios-Fernandez, Raquel ^{[6
]}

Espinosa, Gerard ^{[7
]}

Carreira, Patricia ^{[8
]}

Camps, Maria T. ^{[9
]}

Castillo, Maria J. ^{[10
]}

Gonzalez-Gay, Miguel A. ^{[11
]}

Beltran, Emma ^{[12
]}

Freire, Maria del Carmen ^{[13
]}

Narvaez, Javier ^{[14
]}

Tolosa, Carlos ^{[15
]}

Witte, Torsten ^{[16
]}

Kreuter, Alexander ^{[17
]}

Schuerwegh, Annemie J.

Hoffmann-Vold, Anna-Maria ^{[18
,19
]}

Hesselstrand, Roger ^{[20
]}

Lunardi, Claudio ^{[21
]}

van Laar, Jacob M. ^{[22
]}

Chee, Meng May ^{[23
]}

Herrick, Ariane ^{[24
]}

Koeleman, Bobby P. C. ^{[25
]}

Denton, Christopher P. ^{[26
]}

Fonseca, Carmen ^{[26
]}

Radstake, Timothy R. D. J. ^{[27
]}

Martin, Javier ^{[1
]}

机构：

[1] CSIC, IPBLN, Granada 18100, Spain

[2] Hosp Valle de Hebron, Med Interna Serv, Barcelona 08035, Spain

[3] IRCCS Fdn Policlin Mangiagalli Regina Elena, I-20122 Milan, Italy

[4] Univ Milan, I-20122 Milan, Italy

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

[6] Hosp Clin Univ, Med Interna Serv, Granada 18012, Spain

[7] Hosp Clin Barcelona, Serv Enfermedades Autoinmunes, E-08036 Barcelona, Spain

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

[9] Hosp Carlos Haya, Med Interna Serv, Malaga 29010, Spain

[10] Hosp Virgen del Rocio, Med Interna Serv, Seville 41013, Spain

[11] Hosp Univ Marques de Valdecilla, Serv Reumatol, IFIMAV, Santander 39008, Spain

[12] Hosp Doctor Peset Aleixandre, Serv Reumatol, Valencia 46017, Spain

[13] Complexo Hosp Univ Vigo, Unidad Trombosis & Vasculitis, Med Interna Serv, Hosp Xeral, Vigo 36204, Spain

[14] Hosp Univ Bellvitge, Serv Reumatol, Barcelona 08907, Spain

[15] Hosp Parc Tauli, Med Interna Serv, Sabadell 08208, Spain

[16] Hannover Med Sch, D-30625 Hannover, Germany

[17] Ruhr Univ Bochum, D-44801 Bochum, Germany

[18] Leiden Univ, Dept Rheumatol, Med Ctr, NL-2333 ZA Leiden, Netherlands

[19] Radiumhosp Med Ctr, Dept Rheumatol, Rikshosp, Oslo Univ Hosp, N-0027 Oslo, Norway

[20] Lund Univ, Dept Rheumatol, SE-22100 Lund, Sweden

[21] Univ Verona, Dept Med, I-37129 Verona, Italy

[22] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[23] Glasgow Royal Infirm, Ctr Rheumat Dis, Glasgow G4 0SF, Lanark, Scotland

[24] Univ Manchester, Arthrit Res UK Epidemiol Unit, Manchester Acad Hlth Sci Ctr, Manchester M13 9PT, Lancs, England

[25] Univ Med Ctr Utrecht, Sect Complex Genet, Dept Med Genet, NL-3584 CG Utrecht, Netherlands

[26] UCL, Ctr Rheumatol, Royal Free & Univ Coll Med Sch, London NW3 PF, England

[27] Univ Med Ctr Utrecht, Dept Rheumatol & Clin Immunol, NL-3584 CX Utrecht, Netherlands

来源：

ARTHRITIS RESEARCH & THERAPY | 2012年 / 14卷 / 02期

关键词：

KILLER T-CELLS; MULTIPLE AUTOIMMUNE-DISEASES; GENOME-WIDE ASSOCIATION; RISK-FACTOR; SUSCEPTIBILITY; POLYMORPHISM; SCLERODERMA; BANK1; STAT4; IRF5;

D O I：

10.1186/ar3809

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population. Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays. Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P-Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)). Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis.

引用

页数：7

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