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Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population
  1. Lucia Corrado1,
  2. Laura Bergamaschi1,
  3. Nadia Barizzone1,
  4. Maria Edvige Fasano2,
  5. Franca R Guerini3,
  6. Marco Salvetti4,
  7. Daniela Galimberti5,
  8. Maria Donata Benedetti6,
  9. Maurizio Leone7,
  10. Sandra D'Alfonso1
  1. 1Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy
  2. 2SCDU Transplantation Immunology, A.O.U. S. Giovanni Battista di Torino, Turin, Italy
  3. 3Laboratory of Molecular Medicine and Biotechnologies, Don C. Gnocchi Foundation IRCCS, S Maria Nascente, Milan, Italy
  4. 4Neurology and Center for Experimental Neurological Therapy (CENTERS), Università La Sapienza, Rome, Italy
  5. 5Università di Milano, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
  6. 6Section of Neurology, Department of Neurological and Vision Sciences, University of Verona, Policlinico G Rossi, Verona, Italy
  7. 7Department of Neurology, A.O.U. Maggiore della Carità, and IRCAD, Novara, Italy
  1. Correspondence to Professor Sandra D'Alfonso, Department of Medical Sciences, Eastern Piedmont University, Via Solaroli 17, 28100 Novara, Italy; dalfonso{at}


Background The T allele of rs9657904 within the CBLB gene was recently found to be significantly associated with multiple sclerosis (MS) in a genome-wide association study in Sardinia.

Objective To replicate this association in an independent population with a different genetic background.

Methods The rs9657904 variant was typed in a sample of 1435 cases and 1466 controls from the Italian mainland.

Results It was found that in this sample also, the common allele T of rs9657904 is significantly positively associated (one-tailed p=7.35×10-5) and with a comparable effect size with MS (OR=1.31, 95% CI 1.14 to 1.52).

Conclusion These data provide further evidence of the association of MS disease with variation within CBLB.

  • CBLB gene
  • multiple sclerosis
  • rs9657904
  • replication study
  • genetics
  • neurology
  • genetic epidemiology

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  • Funding This work was supported by the Italian Foundation for Multiple Sclerosis (FISM grants 2001/R/44, 2002/R/40 and 2005/R/10, 2008/R/11); Regione Piemonte Ricerca Sanitaria Finalizzata (grants 2003 2004, 2007, 2008, 2009), Italian MIUR Ministry (PRIN 2008), Eastern Piedmont University, Compagnia di San Paolo (Turin), Fondazione CRT (Turin). DG was supported by Italian Ministry of Health “Progetto Giovani Ricercatori 2008”. NB and LC were supported by a fellowship from FISM (2003/B/2, 2009/B/1). LB was supported by a PhD Lagrange Fellowship.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the local ethic committees.

  • Provenance and peer review Not commissioned; externally peer reviewed.