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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. Peng
  • A. 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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