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Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes
FW. Miller, W. Chen, TP. O'Hanlon, RG. Cooper, J. Vencovsky, LG. Rider, K. Danko, LR. Wedderburn, IE. Lundberg, LM. Pachman, AM. Reed, SR. Ytterberg, L. Padyukov, A. Selva-O'Callaghan, TR. Radstake, DA. Isenberg, H. Chinoy, WE. Ollier, P. Scheet,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Intramural, práce podpořená grantem
NLK
ProQuest Central
od 2000-02-01 do 2017-12-31
Open Access Digital Library
od 1999-01-01
Medline Complete (EBSCOhost)
od 1999-09-01 do 2015-10-31
Health & Medicine (ProQuest)
od 2000-02-01 do 2017-12-31
Public Health Database (ProQuest)
od 2000-02-01 do 2017-12-31
PubMed
26291516
DOI
10.1038/gene.2015.28
Knihovny.cz E-zdroje
- MeSH
- alely * MeSH
- autoprotilátky imunologie MeSH
- běloši MeSH
- celogenomová asociační studie MeSH
- dermatomyozitida genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- haplotypy MeSH
- HLA antigeny genetika MeSH
- jednonukleotidový polymorfismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- myozitida genetika MeSH
- polymyozitida genetika MeSH
- rizikové faktory MeSH
- studie případů a kontrol MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Intramural MeSH
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<5×10(-8)) in GWAS were identified in the major histocompatibility complex (MHC) region for all myositis phenotypes together, as well as for the four clinical and autoantibody phenotypes studied separately. Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied. Although the HLA DRB1*03:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B*08:01 with polymyositis and anti-Jo-1 autoantibody-positive myositis, multiple alleles of AH8.1 were required for the full risk effects. Our findings establish that alleles of the AH8.1 comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.
3rd Department of Internal Medicine Division of Immunology University of Debrecen Debrecen Hungary
Department of Community and Family Medicine Dartmouth College Hanover NH USA
Division of Medicine University College London London UK
Institute of Child Health University College London London UK
Institute of Rheumatology Charles University Prague Czech Republic
M D Anderson Cancer Center Houston TX USA
MRC ARUK Institute for Ageing and Chronic Disease University of Liverpool UK
National Institute of Environmental Health Sciences National Institutes of Health Bethesda MD USA
Nijmegen Center for Molecular Life Sciences Nijmegen The Netherlands
Citace poskytuje Crossref.org
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