Abstract
Osteopontin (OPN), also known as early T-cell activating gene (Eta-1), has been recently shown to be a critical factor in the progression of experimental autoimmune encephalomyelitis, and perhaps multiple sclerosis (MS). Here we investigated whether the 327T/C, 795C/T, 1128A/G or 1284A/C single-nucleotide polymorphisms in the OPN gene were correlated with susceptibility or any of the several clinical end points in a cohort of 821 MS patients. Overall, we observed no evidence of genetic association between the OPN polymorphisms and MS. Although not reaching statistical significance, a modest trend for association with disease course was detected in patients carrying at least one wild-type 1284A allele, suggesting an effect on disease course. Patients with this genotype were less likely to have a mild disease course and were at increased risk for a secondary-progressive clinical type.
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Acknowledgements
We thank the MS patients and their families for making this study possible. The collection of subjects and all experiments were performed under the approval of the Committee of Human Research at UC San Francisco. This work was funded by the National Multiple Sclerosis Society (NMSS) grants RG2542 (SLH) and RG2901 (JRO), and NIH grants NS26799 (SLH, JRO). We thank S. Toth, J. Mueller and D. Litman from Pyrosequencing for assisting in development of the genotyping assays.
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URLs for data in this article are as follows:
Center for Human Genetics, http://www.chg.mc.duke.edu/software/pdt.html for Pedigree Disequilibrium Test computer program. A beta-version of the geno-PDT program is available upon request (emartin@chg.mc.duke.edu).
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Caillier, S., Barcellos, L., Baranzini, S. et al. Osteopontin polymorphisms and disease course in multiple sclerosis. Genes Immun 4, 312–315 (2003). https://doi.org/10.1038/sj.gene.6363952
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DOI: https://doi.org/10.1038/sj.gene.6363952
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