Találati lista | Tudóstér

001-es BibID:	BIBFORM051365
Első szerző:	Miller, Frederick W.
Cím:	Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders / Frederick W. Miller, Robert G. Cooper, Jiří Vencovský, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert Selva-O'Callaghan, Timothy R. D. J. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Terrance P. O'Hanlon, Bo Peng, Annette Lee, Janine A. Lamb, Wei Chen, Christopher I. Amos, Peter K. Gregersen, Myositis Genetics Consortium
Dátum:	2013
ISSN:	0004-3591
Megjegyzések:	OBJECTIVE:To identify new genetic associations with juvenile and adult dermatomyositis (DM).METHODS:We performed a genome-wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1,178) and controls (n = 4,724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single-nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM.RESULTS:Compared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS-level significance (P < 5 ? 10(-8)) at 80 genotyped SNPs. An analysis of 141 non-MHC SNPs previously associated with autoimmune diseases showed that 3 SNPs linked with 3 genes were associated with DM, with a false discovery rate (FDR) of <0.05. These genes were phospholipase C-like 1 (PLCL1; rs6738825, FDR = 0.00089), B lymphoid tyrosine kinase (BLK; rs2736340, FDR = 0.0031), and chemokine (C-C motif) ligand 21 (CCL21; rs951005, FDR = 0.0076). None of these genes was previously reported to be associated with DM.CONCLUSION:Our findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non-MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Arthritis and Rheumatism. - 65 : 12 (2013), p. 3239-3247. -
További szerzők:	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. O'Hanlon, Terrance P. Peng, Bo Lee, Annette Lamb, Janine A. Chen, Wei Amos, Christopher I. Gregersen, Peter K. Myositis Genetics Consortium
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: