Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis

• Published in: Annals of the rheumatic diseases Vol. 75; no. 9; pp. 1599 - 1606
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Elsevier Limited 01.09.2016
• Subjects: Adolescent; Antigens; Biopsy; Case-Control Studies; Child; Child, Preschool; Complement C4 - deficiency; Complement C4 - genetics; Complement C4a - deficiency; Complement C4a - genetics; Complement C4b - genetics; Dermatomyositis - genetics; Disease; DNA Copy Number Variations; Female; Genes; Genetic Predisposition to Disease; Genomes; Genotype; Haplotypes; Health risk assessment; Hereditary Complement Deficiency Diseases; HLA-DRB1 Chains - genetics; Humans; Immunologic Deficiency Syndromes - genetics; Male; Pathogenesis; Receptors, Tumor Necrosis Factor, Member 25 - blood; Receptors, Tumor Necrosis Factor, Member 25 - genetics; Risk Factors; Tumor necrosis factor-TNF; White people; White People - genetics; United States > US; Gene Polymorphism; Disease Activity; Epidemiology; Autoimmune Diseases; Dermatomyositis

ObjectiveComplement-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.MethodsThe study population included 105 patien...