Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

@article{Paraboschi2014FunctionalVM,
  title={Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.},
  author={Elvezia Maria Paraboschi and Valeria Rimoldi and Giulia Sold{\`a} and Tommaso Tabaglio and Claudia Dall'Osso and Elena Saba and Marco Vigliano and Alessandro Salviati and M A Leone and Maria Donata Benedetti and Diego Fornasari and Janna Saarela and Philip L De Jager and Nikolaos A. Patsopoulos and Sandra D'alfonso and Donato Gemmati and Stefano Duga and Rosanna Asselta},
  journal={Human molecular genetics},
  year={2014},
  volume={23 25},
  pages={
          6746-61
        }
}
The protein kinase C alpha (PRKCA) gene, encoding a Th17-cell-selective kinase, was repeatedly associated with multiple sclerosis (MS), but the underlying pathogenic mechanism remains unknown. We replicated the association in Italians (409 cases, 723 controls), identifying a protective signal in the PRKCA promoter (P = 0.033), and a risk haplotype in intron 3 (P = 7.7 × 10(-4); meta-analysis with previously published data: P = 4.01 × 10(-8)). Expression experiments demonstrated that the… CONTINUE READING
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