Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes

F. W. Miller*, W. Chen, T. P. O'Hanlon, R. G. Cooper, J. Vencovsky, L. G. Rider, K. Danko, L. R. Wedderburn, I. E. Lundberg, L. M. Pachman, A. M. Reed, S. R. Ytterberg, L. Padyukov, A. Selva-O'Callaghan, T. R. Radstake, D. A. Isenberg, H. Chinoy, W. E. R. Ollier, P. Scheet, B. PengA. Lee, J. Byun, J. A. Lamb, P. K. Gregersen, C. I. Amos,

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis, 473 juvenile dermatomyositis, 532 polymyositis and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl-tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (P

Original languageEnglish
Pages (from-to)470-480
Number of pages11
JournalGenes and Immunity
Volume16
Issue number7
DOIs
Publication statusPublished - 2015

Keywords

  • IDIOPATHIC INFLAMMATORY MYOPATHIES
  • HISTOCOMPATIBILITY COMPLEX
  • AUTOIMMUNE-DISEASES
  • IMMUNE-RESPONSE
  • AUTOANTIBODIES
  • DERMATOMYOSITIS
  • LINKAGE
  • IMMUNOGENETICS
  • POLYMYOSITIS
  • PATHOGENESIS

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