PMID- 28777108
OWN - NLM
STAT- MEDLINE
DCOM- 20180510
LR  - 20210109
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Print)
IS  - 1040-8711 (Linking)
VI  - 29
IP  - 6
DP  - 2017 Nov
TI  - Genetics in inclusion body myositis.
PG  - 639-644
LID - 10.1097/BOR.0000000000000431 [doi]
AB  - PURPOSE OF REVIEW: To review the advances in our understanding of the genetics of 
      inclusion body myositis (IBM) in the past year. RECENT FINDINGS: One large 
      genetic association study focusing on immune-related genes in IBM has refined the 
      association within the human leukocyte antigen (HLA) region to HLA-DRB1 alleles, 
      and identified certain amino acid positions in HLA-DRB1 that may explain this 
      risk. A suggestive association with CCR5 may indicate genetic overlap with other 
      autoimmune diseases. Sequencing studies of candidate genes involved in related 
      neuromuscular or neurodegenerative diseases have identified rare variants in VCP 
      and SQSTM1. Proteomic studies of rimmed vacuoles in IBM and subsequent genetic 
      analyses of candidate genes identified rare missense variants in FYCO1. Complex, 
      large-scale mitochondrial deletions in cytochrome c oxidase-deficient muscle 
      fibres expand our understanding of mitochondrial abnormalities in IBM. SUMMARY: 
      The pathogenesis of IBM is likely multifactorial, including inflammatory and 
      degenerative changes, and mitochondrial abnormalities. There has been 
      considerable progress in our understanding of the genetic architecture of IBM, 
      using complementary genetic approaches to investigate these different pathways.
FAU - Rothwell, Simon
AU  - Rothwell S
AD  - aCentre for Musculoskeletal Research, Division of Musculoskeletal and 
      Dermatological Sciences, Faculty of Biology, Medicine and Health, Manchester 
      Academic Health Science Centre, The University of Manchester, Manchester bGreater 
      Manchester Neurosciences Centre, Manchester Academic Health Science Centre, 
      Salford Royal NHS Foundation Trust, Stott Lane, Salford cCentre for Epidemiology, 
      Division of Population Health, Health Services Research and Primary Care, Faculty 
      of Biology, Medicine and Health, Manchester Academic Health Science Centre, The 
      University of Manchester, Manchester, UK.
FAU - Lilleker, James B
AU  - Lilleker JB
FAU - Lamb, Janine A
AU  - Lamb JA
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-DRB1 Chains)
SB  - IM
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - HLA-DRB1 Chains/*genetics
MH  - Humans
MH  - Muscle Fibers, Skeletal/immunology/pathology
MH  - Myositis, Inclusion Body/*genetics/immunology/pathology
MH  - Proteomics
PMC - PMC5625970
EDAT- 2017/08/05 06:00
MHDA- 2018/05/11 06:00
PMCR- 2017/10/03
CRDT- 2017/08/05 06:00
PHST- 2017/08/05 06:00 [pubmed]
PHST- 2018/05/11 06:00 [medline]
PHST- 2017/08/05 06:00 [entrez]
PHST- 2017/10/03 00:00 [pmc-release]
AID - 290605 [pii]
AID - 10.1097/BOR.0000000000000431 [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2017 Nov;29(6):639-644. doi: 10.1097/BOR.0000000000000431.