Article
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
Human molecular genetics - 20 Dec 2014
Paraboschi Elvezia M, Rimoldi Valeria, Soldà Giulia, Tabaglio Tommaso, Dall'Osso Claudia, Saba Elena, Vigliano Marco, Salviati Alessandro, Leone Maurizio, Benedetti Maria D, Fornasari Diego, Saarela Janna, De Jager Philip L, Patsopoulos Nikolaos A, D'Alfonso Sandra, Gemmati Donato, Duga Stefano, Asselta Rosanna
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.