PMID- 27466937
OWN - NLM
STAT- MEDLINE
DCOM- 20170605
LR  - 20210109
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Linking)
VI  - 28
IP  - 6
DP  - 2016 Nov
TI  - New developments in genetics of myositis.
PG  - 651-6
LID - 10.1097/BOR.0000000000000328 [doi]
AB  - PURPOSE OF REVIEW: This article reviews the advances that have been made in our 
      understanding of the genetics of the idiopathic inflammatory myopathies (IIM) in 
      the past 2 years, with a particular focus on polymyositis, dermatomyositis and 
      inclusion body myositis. RECENT FINDINGS: Two large human leukocyte antigen (HLA) 
      imputation studies have confirmed a strong association with the 8.1 ancestral 
      haplotype in clinical subgroups of myositis and suggest multiple independent 
      associations on this haplotype. Risk in these genes may be due to specific amino 
      acid positions within the peptide-binding grooves of HLA molecules. A large 
      genetic study in 2566 IIM patients revealed associations such as PTPN22, STAT4, 
      UBE2L3 and BLK, which overlap with risk variants reported in other seropositive 
      autoimmune diseases. There is also evidence of different genetic architectures in 
      clinical subgroups of IIM. Candidate gene studies in the Japanese and Chinese 
      populations have replicated previous IIM associations which suggest common 
      aetiology between ethnicities. SUMMARY: International collaborations have 
      facilitated large genetic studies in IIM that have revealed much about the 
      genetics of this rare complex disease both within the HLA region and genome-wide. 
      Future approaches, such as sequencing and trans-ethnic meta-analyses, will 
      advance our knowledge of IIM genetics.
FAU - Rothwell, Simon
AU  - Rothwell S
AD  - aCentre for Musculoskeletal Research, University of Manchester, Manchester, UK 
      bCentre for Integrated Genomic Medical Research, University of Manchester, 
      Manchester, UK cCentre for Musculoskeletal Research and National Institute of 
      Health Research, Manchester Musculoskeletal Biomedical Research Unit, Central 
      Manchester University Hospitals NHS Foundation Trust, University of Manchester, 
      Manchester, UK.
FAU - Lamb, Janine A
AU  - Lamb JA
FAU - Chinoy, Hector
AU  - Chinoy H
LA  - eng
GR  - MR/N003322/1/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Curr Opin Rheumatol
JT  - Current opinion in rheumatology
JID - 9000851
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Autoimmune Diseases/genetics
MH  - Dermatomyositis/genetics/immunology
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA Antigens/genetics
MH  - Haplotypes
MH  - Humans
MH  - Myositis/*genetics/immunology
MH  - Myositis, Inclusion Body/genetics/immunology
MH  - Polymyositis/genetics/immunology
MH  - Risk Factors
EDAT- 2016/07/29 06:00
MHDA- 2017/06/06 06:00
CRDT- 2016/07/29 06:00
PHST- 2016/07/29 06:00 [entrez]
PHST- 2016/07/29 06:00 [pubmed]
PHST- 2017/06/06 06:00 [medline]
AID - 10.1097/BOR.0000000000000328 [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2016 Nov;28(6):651-6. doi: 10.1097/BOR.0000000000000328.