Recent genome-wide association studies have implicated the "signal transducer and activator of transcription 3" gene (STAT3) as a putative new multiple sclerosis (MS) susceptibility locus. However, independent validation studies are sparse. Therefore, we performed a genetic association study of two STAT3 polymorphisms (rs744166 and rs2293152) in a large and independent German case - control sample of 5,904 subjects. Weobserved a nominally significant, albeit weak association between rs744166 and MS susceptibility (odds ratio=1.09, P=0.012) in our sample. This study supports the association between STAT3 and an increase in MS risk. Taking into account the functional role of STAT3, our results favour an involvement of T h17 lymphocytes in MS. © Springer-Verlag 2011.
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Lill, C. M., Schjeide, B. M. M., Akkad, D. A., Blaschke, P., Winkelmann, A., Gerdes, L. A., … Zipp, F. (2012). Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample. Neurogenetics, 13(1), 83–86. https://doi.org/10.1007/s10048-011-0305-6
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