PMID- 31415030
OWN - NLM
STAT- MEDLINE
DCOM- 20200622
LR  - 20200622
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Print)
IS  - 1040-8711 (Linking)
VI  - 31
IP  - 6
DP  - 2019 Nov
TI  - Genetics of idiopathic inflammatory myopathies: insights into disease 
      pathogenesis.
PG  - 611-616
LID - 10.1097/BOR.0000000000000652 [doi]
AB  - PURPOSE OF REVIEW: To review the advances that have been made in our 
      understanding of the genetics of idiopathic inflammatory myopathies (IIM) in the 
      past 2 years, with a particular focus on dermatomyositis and polymyositis. RECENT 
      FINDINGS: Fine-mapping studies in the major histocompatibility complex region in 
      Caucasian and Korean populations have identified novel human leukocyte antigen 
      (HLA) variants that are associated with autoantibody subgroups in IIM. 
      Differences in HLA associations have been identified between Caucasian 
      adult-onset and juvenile-onset patients with anti-TIF1 autoantibodies, suggesting 
      distinct aetiologies in these patients. For some autoantibodies, the strongest 
      associations identified are specific amino acid positions within HLA molecules, 
      providing mechanistic insights into disease pathogenesis.A meta-analysis 
      combining data from four seropositive rheumatic diseases identified 22 novel 
      non-HLA associations in IIM, of which seven were previously reported at 
      suggestive significance in IIM. A genome-wide association study conducted in the 
      Japanese population identified a significant association with WDFY4 in patients 
      with clinically amyopathic dermatomyositis. SUMMARY: Considerable progress has 
      been made in understanding the genetics of IIM, including differences in clinical 
      and autoantibody subgroups. As research continues, there should be a focus to 
      increase statistical strength and precision by conducting meta-analyses and 
      trans-ethnic studies.
FAU - Rothwell, Simon
AU  - Rothwell S
AD  - Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health.
FAU - Chinoy, Hector
AU  - Chinoy H
AD  - National Institute for Health Research Manchester Biomedical Research Centre, 
      Manchester University NHS Foundation Trust, University of Manchester, Manchester.
AD  - Rheumatology Department, Salford Royal NHS Foundation Trust, Manchester Academic 
      Health Science Centre, Salford.
FAU - Lamb, Janine A
AU  - Lamb JA
AD  - Division of Population Health, Health Services Research & Primary Care, Faculty 
      of Biology, Medicine and Health, University of Manchester, Manchester, UK.
LA  - eng
GR  - MR/N003322/1/MRC_/Medical Research Council/United Kingdom
GR  - DH_/Department of Health/United Kingdom
PT  - Journal Article
PT  - Meta-Analysis
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Curr Opin Rheumatol
JT  - Current opinion in rheumatology
JID - 9000851
RN  - 0 (Autoantibodies)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Autoantibodies/*genetics/immunology
MH  - Autoimmunity/*genetics
MH  - Genome-Wide Association Study/*methods
MH  - HLA Antigens/*genetics/*immunology
MH  - Humans
MH  - Myositis/*genetics/immunology
PMC - PMC6791565
EDAT- 2019/08/16 06:00
MHDA- 2020/06/23 06:00
PMCR- 2019/10/14
CRDT- 2019/08/16 06:00
PHST- 2019/08/16 06:00 [pubmed]
PHST- 2020/06/23 06:00 [medline]
PHST- 2019/08/16 06:00 [entrez]
PHST- 2019/10/14 00:00 [pmc-release]
AID - BOR310612 [pii]
AID - 10.1097/BOR.0000000000000652 [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2019 Nov;31(6):611-616. doi: 10.1097/BOR.0000000000000652.