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Independent replication establishes the CD247 gene as a genetic systemic sclerosis susceptibility factor
  1. Philippe Dieudé1,2,
  2. Catherine Boileau3,
  3. Mickael Guedj4,
  4. Jerome Avouac5,6,
  5. Barbara Ruiz5,6,
  6. Eric Hachulla7,
  7. Elisabeth Diot8,
  8. Jean Luc Cracowski9,
  9. Kiet Tiev10,
  10. Jean Sibilia11,
  11. Luc Mouthon12,
  12. Camille Frances13,
  13. Zahir Amoura14,
  14. Patrick Carpentier15,
  15. Anne Cosnes16,
  16. Olivier Meyer1,
  17. Andre Kahan5,
  18. Gilles Chiocchia6,
  19. Yannick Allanore5,6
  1. 1Université Paris 7, Rhumatologie, Hôpital Bichat, APHP, Paris, France
  2. 2INSERM U699, Hôpital Bichat, Paris, France
  3. 3Université Versailles Saint Quentin Yvelines, Laboratoire de Biochimie Hormonale et Génétique, Hôpital Ambroise Paré, AP-HP, Boulogne, France
  4. 4UMR CNRS-8071/INRA-1152, Université d'Evry Val d'Essonne, Evry, France
  5. 5Université Paris Descartes, Rhumatologie A, Hôpital Cochin, APHP, Paris, France
  6. 6INSERM U1016, Université Paris Descartes, Hôpital Cochin, Paris, France
  7. 7Université Lille II, Médecine Interne, Lille, France
  8. 8INSERM EMI-U 00-10, Médecine interne, CHU Bretonneau, Tours, France
  9. 9INSERM CIC3, CHU Grenoble, France
  10. 10Université Pierre et Marie Curie, Hôpital Saint Antoine, Paris, France
  11. 11Université Louis Pasteur, Rhumatologie, Hôpital Hautepierre, Strasbourg, France
  12. 12Université Paris Descartes, Médecine interne, Hôpital Cochin, APHP, Paris, France
  13. 13Université Paris 6, Dermatologie, Hôpital Tenon, Paris, France
  14. 14Université Paris 6, Médecine Interne, Hôpital Pitié Salpêtrière, Paris, France
  15. 15Clinique Universitaire de Médecine Vasculaire, Pôle Pluridisciplinaire de Médecine, CHU Grenoble, France
  16. 16Université Paris-Est Créteil, Dermatologie, Hôpital Henri Mondor, Créteil, France
  1. Correspondence toDr Philippe Dieudé, Service de Rhumatologie, Hôpital Bichat Claude Bernard, 46 rue Henri Huchard, 75018 Paris, France; philippe.dieude{at}bch.aphp.fr

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The first large genome-wide association (GWA) study of systemic sclerosis (SSc) recently included 2296 SSc patients and 5014 healthy controls from four case–control series of Caucasian individuals and involved the analysis of about 280 000 single nucleotide polymorphisms (SNPs).1 Outside the HLA region, SNPs mapping to the known TNPO3-IRF5 and STAT4 regions showed the strongest association but three other loci reached genome-wide significance (namely CD247 locus in 1q22–23, CDH7 in 18q22 and EXOC2-IRF4 near 6p25) although only one (CD247) could be replicated in the second set of samples. Given the major challenge of separating the many false-positive associations from the few true-positive associations with disease in GWA studies, resulting in a stratification bias, a critical strategy is replication of results in independent samples.2 Therefore, we herein provide an attempt of …

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