Article Text

other Versions

PDF
A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype.
  1. B Rueda (blarume{at}ipb.csic.es)
  1. CSIC, Spain
    1. C Simeon
    1. Servicio de Medinina Interna, Hospital Vall de Ebron, Barcelona, Spain
      1. R Hesselstrand
      1. Department of Rheumatology, Lund University Hospital, Lund, Sweden
        1. A Herrick
        1. Rheumatic Diseases Centre, University of Manchester, Salford Royal NHS Foundation Trust, United Kingdom
          1. J Worthington
          1. Rheumatic Diseases Centre, University of Manchester, Salford Royal NHS Foundation Trust, United Kingdom
            1. N Ortego-Centeno
            1. Servicio de Medicina Interna, Hospital Clinico Universitario, Granada, Spain
              1. G Riemekasten
              1. Department of Rheumatology and Clinical Immunology, Charité University Hospital, Berlin, Germany
                1. V Fonollosa
                1. Servicio de Medinina Interna, Hospital Vall de Ebron, Barcelona, Spain
                  1. M C Vonk
                  1. Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
                    1. F HJ van den Hoogen
                    1. Department of Rheumatology, Sint Maartenskliniek, Nijmegen, Netherlands
                      1. J Sanchez-Román
                      1. Servicio de Medicina Interna. Hospital Virgen del Rocio, Sevilla, Spain
                        1. M A Aguirre-Zamorano
                        1. Servicio de Reumatología. Hospital Reina Sofía, Córdoba, Spain
                          1. R García-Portales
                          1. Servicio Medicina Interna. Hospital Virgen de la Victoria, Málaga, Spain
                            1. A Pros
                            1. Servicio de Reumatología, Hospital del Mar, Barcelona, Spain
                              1. M T Camps
                              1. Servicio de Medicina Interna, Hospital Carlos Haya, Malaga, Spain
                                1. M A Gonzalez-Gay
                                1. Servicio de Reumatología, Hospital Xeral-Calde, Lugo, Spain
                                  1. M J Coenen
                                  1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
                                    1. N Lambert
                                    1. INSERM U639, Parc scientifique de Luminy Marseille, France
                                      1. J L Nelson
                                      1. Department of Medicine, University of Washington, Seattle, Washington, United States
                                        1. T RDJ Radstake
                                        1. Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
                                          1. J Martin (martin{at}ipb.csic.es)
                                          1. Instituto de Parasitologia y Biomedicina, Spain

                                            Abstract

                                            Objective: In this work we conducted a replication study to investigate whether the -945 CTGF genetic variant is associated with SSc susceptibility or specific SSc phenotype.

                                            Methods: The study population comprised of 1180 SSc patients and 1784 healthy controls from seven independent case-control sets of European ancestry (Spanish, French, Dutch, German, British, Swedish and North American). The –945 CTGF genetic variant was genotyped using a Taqman 5′ allelic discrimination assay.

                                            Results: First we conducted an independent association study that revealed in all case-control cohorts under study no association of the CTGF -945 polymorphism with SSc susceptibility. These findings were confirmed by a meta-analysis that reached a pooled OR of 1.12 (95 % CI 0.99-1.25, P=0.06). In addition, the possible contribution of the -945 CTGF genetic variant to SSc phenotype was investigated. However, stratification according to SSc subtypes (limited or diffuse), selective autoantibodies (antitopoisomerase I or anti-centromere) or pulmonary involvement reached no statistically significant skewing.

                                            Conclusion: Our results do not confirm previous findings and suggest that the CTGF –945 promoter polymorphism does not play a major role in SSc susceptibility or clinical phenotype.

                                            Statistics from Altmetric.com

                                            Request permissions

                                            If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.