A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

被引：57

作者：

Bossini-Castillo, Lara ^{[1
]}

Broen, Jasper C. A. ^{[2
]}

Simeon, Carmen P. ^{[3
]}

Beretta, Lorenzo ^{[4
]}

Vonk, Madelon C. ^{[2
]}

Ortego-Centeno, Norberto ^{[5
]}

Espinosa, Gerard ^{[6
]}

Carreira, Patricia ^{[7
]}

Teresa Camps, Maria ^{[8
]}

Navarrete, Nuria ^{[9
]}

Gonzalez-Escribano, Maria F. ^{[10
]}

Vicente-Rabaneda, Esther ^{[11
]}

Rodriguez, Luis ^{[12
]}

Tolosa, Carlos ^{[13
]}

Roman-Ivorra, Jose A. ^{[14
]}

Gomez-Gracia, Inmaculada ^{[15
]}

Garcia-Hernandez, Francisco J. ^{[16
]}

Castellvi, Ivan ^{[17
]}

Gallego, Maria ^{[18
]}

Fernandez-Nebro, Antonio ^{[19
]}

Garcia-Portales, Rosa ^{[20
]}

Victoria Egurbide, Maria ^{[21
]}

Fonollosa, Vicente ^{[3
]}

Garcia de la Pena, Paloma ^{[22
]}

Pros, Ana ^{[23
]}

Gonzalez-Gay, Miguel A. ^{[24
]}

Hesselstrand, Roger ^{[25
]}

Riemekasten, Gabriela ^{[26
]}

Witte, Torsten ^{[27
]}

Coenen, Marieke J. H. ^{[28
]}

Koeleman, Bobby P. ^{[29
]}

Houssiau, Frederic ^{[30
]}

Smith, Vanessa

de Keyser, Filip

Westhovens, Rene ^{[32
]}

De Langhe, Ellen ^{[32
]}

Voskuyl, Alexandre E. ^{[33
]}

Schuerwegh, Annemie J. ^{[34
]}

Chee, Meng May ^{[35
]}

Madhok, Rajan ^{[35
]}

Shiels, Paul ^{[35
]}

Fonseca, Carmen ^{[36
]}

Denton, Christopher ^{[36
]}

Claes, Kathleen ^{[31
]}

Padykov, Leonid ^{[37
]}

Nordin, Annika ^{[37
]}

Palm, Oyvind ^{[38
]}

Lie, Benedicte A. ^{[39
]}

Airo, Paolo ^{[40
]}

Scorza, Raffaella ^{[4
]}

机构：

[1] CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18100, Spain

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

[3] Hosp Valle De Hebron, Med Interna Serv, Barcelona, Spain

[4] Univ Milan, Referral Ctr Syst Autoimmune Dis, Milan, Italy

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

[6] Hosp Clin Barcelona, Med Interna Serv, Barcelona, Spain

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

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

[9] Hosp Virgen de las Nieves, Med Interna Serv, Granada, Spain

[10] Hosp Virgen del Rocio, Serv Inmunol, Seville, Spain

[11] Hosp Princesa, Serv Reumatol, Madrid, Spain

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

[13] Hosp Parc Tauli, Med Interna Serv, Sabadell, Spain

[14] Hosp Doctor Peset Aleixandre, Serv Reumatol, Valencia, Spain

[15] Hosp Reina Sofia, Serv Reumatol, Cordoba, Spain

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

[17] Hosp Santa Creu & Sant Pau, Serv Reumatol, Barcelona, Spain

[18] Univ Oviedo, Hosp Cent Asturias, Med Interna Serv, E-33080 Oviedo, Spain

[19] Hosp Carlos Haya, Serv Reumatol, Malaga, Spain

[20] Hosp Virgen de la Victoria, Serv Reumatol, Malaga, Spain

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

[22] Hosp Ramon & Cajal, Serv Reumatol, E-28034 Madrid, Spain

[23] Hosp del Mar, Serv Reumatol, Barcelona, Spain

[24] Hosp Univ Marques de Valdecilla, Serv Reumatol, Santander, Spain

[25] Univ Lund Hosp, Dept Rheumatol, S-22185 Lund, Sweden

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

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

[28] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands

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

[30] Catholic Univ Louvain, B-1200 Brussels, Belgium

[31] Univ Ghent, Dept Genet, B-9000 Ghent, Belgium

[32] Univ Leuven KULeuven, Leuven, Belgium

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

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

[35] Univ Glasgow, Glasgow, Lanark, Scotland

[36] Royal Free & Univ Coll Med Sch, Ctr Rheumatol, London WC1E 6BT, England

[37] Karolinska Inst, Stockholm, Sweden

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

[39] Oslo Univ Hosp, Rikshosp, Inst Immunol, Oslo, Norway

[40] Spedali Civil Brescia, Serv Reumatol & Immunol Clin, I-25125 Brescia, Italy

[41] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

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

[43] Ruhr Univ Bochum, Bochum, Germany

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

来源：

ANNALS OF THE RHEUMATIC DISEASES | 2011年 / 70卷 / 04期

关键词：

GENOME-WIDE ASSOCIATION; LUPUS-ERYTHEMATOSUS; SCLERODERMA; SUSCEPTIBILITY; GENETICS; CD134;

D O I：

10.1136/ard.2010.141838

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 influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers. Results A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively). Conclusions The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.

引用

页码：638 / 641

页数：4

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