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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,...

. 2015 ; 16 (7) : 470-80. [pub] 20150820

Language English Country England, Great Britain

Document type Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc16028292
E-resources Online Full text

NLK ProQuest Central from 2000-02-01 to 2017-12-31
Open Access Digital Library from 1999-01-01
Medline Complete (EBSCOhost) from 1999-09-01 to 2015-10-31
Health & Medicine (ProQuest) from 2000-02-01 to 2017-12-31
Public Health Database (ProQuest) from 2000-02-01 to 2017-12-31

Links

PubMed 26291516
DOI 10.1038/gene.2015.28
Knihovny.cz E-resources

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.

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$a Isenberg, David $d 1949- $7 xx0231548 $u Division of Medicine, University College London, London, UK.
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$a Chinoy, H $u The National Institute for Health Research Manchester Musculoskeletal Biomedical Research Unit, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK.
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