Osteopontin polymorphisms and disease course in multiple sclerosis.

Center for Human Genetics, Department of Medicine, Duke UniversityMedical Center, Durham, NC, USAOsteopontin (OPN), also known as early T-cell activating gene (Eta-1), has been recently shown to be a critical factor in theprogression of experimental autoimmune encephalomyelitis, and perhaps multiple sclerosis (MS). Here we investigatedwhether the 327T/C, 795C/T, 1128A/G or 1284A/C single-nucleotide polymorphisms in the OPN gene were correlated withsusceptibility or any of the several clinical end points in a cohort of 821 MS patients. Overall, we observed no evidence ofgenetic association between the OPN polymorphisms and MS. Although not reaching statistical significance, a modest trend forassociation with disease course was detected in patients carrying at least one wild-type 1284A allele, suggesting an effect ondisease course. Patients with this genotype were less likely to have a mild disease course and were at increased risk for asecondary-progressive clinical type.Genes and Immunity (2003) 4, 312–315. doi:10.1038/sj.gene.6363952Keywords: multiple sclerosis; single-nucleotide polymorphisms; osteopontin