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.
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