Article
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis.
Annals of the rheumatic diseases - 1 Sept 2016
Lintner Katherine E, Patwardhan Anjali, Rider Lisa G, Abdul-Aziz Rabheh, Wu Yee Ling, Lundström Emeli, Padyukov Leonid, Zhou Bi, Alhomosh Alaaedin, Newsom David, White Peter, Jones Karla B, O'Hanlon Terrance P, Miller Frederick W, Spencer Charles H, Yu Chack Yung
Abstract excerpt
OBJECTIVE: Complement-mediated vasculopathy of muscle and skin are clinical features of juvenile dermatomyositis (JDM). We assess gene copy-number variations (CNVs) for complement C4 and its isotypes, C4A and C4B, in genetic risks and pathogenesis of JDM. METHODS: The study population included 105 patients with JDM and 500 healthy European Americans. Gene copy-numbers (GCNs) for total C4, C4A, C4B and HLA-DRB1...
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