| Title: | A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis. |
| Authors: | Bossini-Castillo, Lara
Simeon, Carmen P
Beretta, Lorenzo
Broen, Jasper C
Vonk, Madelon C
Ríos-Fernández, Raquel
Espinosa, Gerard
Carreira, Patricia
Camps, María T
Castillo, Maria J
González-Gay, Miguel A
Beltrán, Emma
Carmen Freire, María del
Narváez, Javier
Tolosa, Carlos
Witte, Torsten
Kreuter, Alexander
Schuerwegh, Annemie J
Hoffmann-Vold, Anna-Maria
Hesselstrand, Roger
Lunardi, Claudio
van Laar, Jacob M
Chee, Meng May
Herrick, Ariane
Koeleman, Bobby Pc
Denton, Christopher P
Fonseca, Carmen
Radstake, Timothy Rdj
Martin, Javier |
| metadata.dc.contributor.authoraffiliation: | [Bossini-Castillo,L; Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain. [Simeon,CP] Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain. [Beretta,L] IRCCS Fondazione Policlinico-Mangiagalli-Regina Elena and University of Milan, Allergy, Clinical Immunology and Rheumatology, Milan, Italy. [Broen,JC; Vonk,MC] Department of Rheumatology,
Radboud University Nijmegen Medical CentreNijmegen, The Netherlands. [Ríos-Fernández,R] Servicio de Medicina Interna, Hospital Clínico Universitario, Granada, Spain. [Espinosa,G] Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain. [Carreira,P] Servicio de Reumatología, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Servicio de Medicina Interna, Hospital Carlos Haya, Málaga, Spain. [Castillo,MJ] Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, Spain. [González-Gay,MA] Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain. [Beltran,E] Servicio de Reumatología, Hospital del Doctor Peset Aleixandre, Valencia, Spain. [Freire,M del C] Unidad Trombosis y Vasculitis, Servicio de Medicina Interna, Hospital Xeral-Complexo Hospitalario Universitario de Vigo, Vigo, Spain. [Narváez,J] Servicio de Reumatología, Hospital Universitario de Bellvitge, Barcelona, Spain. [Tolosa,C] Servicio de Medicina Interna, Hospital Parc Taulí, Sabadell, Spain. [Witte,T] Hannover Medical School, Hannover, Germany. [Kreuter,A] Ruhr University of Bochum, Bochum, Germany. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [Hoffmann-Vold,A-M] Department of Rheumatology, Rikshospitalet, Oslo University Hospital, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway. [Hesselstrand,R] Department of Rheumatology, Lund University, Lund, Sweden. [Lunardi,C] Department of Medicine, Università degli Studi di Verona Verona, Italy. [Van Laar,JM] Institute of Cellular Medicine, Newcastle University, NewcastleUK. [Chee,MM] Centre for Rheumatic Diseases, Glasgow Royal Infirmary, Glasgow, UK. [Herrick,A] Arthritis Research UK Epidemiology Unit, The University of Manchester,
Manchester Academic Health Science Centre, Manchester, UK. [Koeleman,BPC] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, , The Netherlands. [Denton,CP; Fonseca,C] Centre for Rheumatology, Royal Free and University College Medical School, University College London, London, UK. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands. |
| metadata.dc.contributor.group: | The Spanish Scleroderma Group |
| Keywords: | Antígenos de diferenciación de linfocitos T;Estudios de cohortes;Estudios de asociación genética;Genotipo;Fibrosis pulmonar;Esclerodermia sistémica |
| metadata.dc.subject.mesh: | Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Diseases::Respiratory Tract Diseases::Lung Diseases::Pulmonary Fibrosis
Medical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic
Medical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, Differentiation, T-Lymphocyte |
| Issue Date: | 24-Apr-2012 |
| Publisher: | BioMed Central |
| Citation: | Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, et al. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis. Arthritis Res. Ther.2012; 14(2):R85 |
| Abstract: | 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 (PBonf = 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. |
| Description: | Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; |
| URI: | http://hdl.handle.net/10668/1308 |
| metadata.dc.relation.publisherversion: | http://arthritis-research.com/content/14/2/R85/abstract |
| metadata.dc.identifier.doi: | 10.1186/ar3809 |
| ISSN: | 1478-6362 (Online)
1478-6354 (Print) |
| Appears in Collections: | 01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital San Cecilio
01- Artículos - Hospital Virgen del Rocío
|
