Találati lista | Tudóstér

001-es BibID:	BIBFORM073044
Első szerző:	Miller, Frederick W.
Cím:	Genome-wide Association Study Identifies HLA 8.1 Ancestral Haplotype Alleles as Major Genetic Risk Factors for Myositis Phenotypes / Frederick W. Miller, Wei Chen, Terrance P. O'Hanlon, Robert G. Cooper, Jiri Vencovsky, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert SelvaO'Callaghan, Timothy R. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Paul Scheet, Bo Peng, Annette Lee, Jinyoung Byun, Janine A. Lamb, Peter K. Gregersen, Christopher I. Amos, the Myositis Genetics Consortium
Dátum:	2015
ISSN:	1466-4879 1476-5470
Megjegyzések:	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 DRB103:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B08:01 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 AH8.1haplotype comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban polymyositis dermatomyositis adult juvenile anti-Jo-1 autoantibodies HLA 8.1 ancestral haplotype
Megjelenés:	Genes And Immunity 16 : 7 (2015), p. 470-480. -
További szerzők:	Chen, Wei O'Hanlon, Terrance P. Cooper, Robert G. Vencovsky, Jiri Rider, Lisa G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Wedderburn, Lucy R. Lundberg, Ingrid Pachman, Lauren M. Reed, Ann M. Ytterberg, Steven R. Padyukov, Leonid Selva-O'Callaghan, Albert Radstake, Timothy R. D. J. Isenberg, David A. Chinoy, Hector Ollier, William E. Scheet, Paul Peng, Bo Lee, Annette Byun, Jinyoung Lamb, Janine A. Gregersen, Peter K. Amos, Christopher I. the Myositis Genetics Consortium
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: