Association of the CBLB gene with MS: new evidence from a replication study in an Italian population

Lucia Corrado (1) , Laura Bergamaschi (1) , Nadia Barizzone (1) , Maria Edvige Fasano (2) , Franca Rosa Guerini (3) , Marco Salvetti (4) , Daniela Galimberti (5) , Maria Donata Benedetti (6) , Maurizio Leone (7) , Sandra d'Alfonso (1)

1 Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD),
2 SCDU Transplantation Immunology, A.O.U. S. Giovanni Battista di Torino, Turin, Italy
3 Laboratory of Molecular Medicine and Biotechnologies, Don C. Gnocchi Foundation IRCCS, S. Maria Nasc
4 Neurology and Center for Experimental Neurological Therapy (CENTERS), Università La Sapienza, Rome,
5 Centro Dino Ferrari [Milano]
6 UNIVR - Università degli studi di Verona = University of Verona
7 Department of Neurology, A.O.U. Maggiore della Carità, and IRCAD, Novara, Italy

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 (GWAS) in Sardinia. Objective To replicate this association in an independent population with a different genetic background. Methods We typed the rs9657904 variant in a sample of 1435 cases and 1466 controls from the Italian mainland. Results We found that also in this sample, the common allele T of rs9657904 is significantly positively associated (one tailed p = 7.35 x 10-5) and with a comparable effect size with MS (OR = 1.31, 95%CI: 1.14-1.52). Conclusion These data provide further evidence of MS disease association with variation within CBLB.

Mots clés: Genetics; Neurology; Multiple sclerosis; Genetic epidemiology

Lucia Corrado, Laura Bergamaschi, Nadia Barizzone, Maria Edvige Fasano, Franca Rosa Guerini, et al.. Association of the CBLB gene with MS: new evidence from a replication study in an Italian population. Journal of Medical Genetics, 2010, 48 (3), pp.210. ⟨10.1136/jmg.2010.081380⟩. ⟨hal-00581008⟩