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

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.