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SCI Article

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive
Author Lee, Hye-Soon (Dept Rheumatol); Bae, Sang-Cheol (Dept Rheumatol);
Corresponding Author Info Raychaudhuri, S (reprint author), Harvard Univ, Brigham & Womens Hosp, Div Genet, Sch Med, Boston, MA 02115 USA.
E-mail
Document Type Article
Source NATURE GENETICS Volume:44 Issue:3 Pages:291-U91 Published:2012
Times Cited 163
External Information http://dx.doi.org/10.1038/ng.1076
Abstract The genetic association of the major histocompatibility complex (MHC) to rheumatoid arthritis risk has commonly been attributed to alleles in HLA-DRB1. However, debate persists about the identity of the causal variants in HLA-DRB1 and the presence of independent effects elsewhere in the MHC. Using existing genome-wide SNP data in 5,018 individuals with seropositive rheumatoid arthritis (cases) and 14,974 unaffected controls, we imputed and tested classical alleles and amino acid polymorphisms in HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1 and HLA-DRB1, as well as 3,117 SNPs across the MHC. Conditional and haplotype analyses identified that three amino acid positions (11, 71 and 74) in HLA-DR beta 1 and single-amino-acid polymorphisms in HLA-B (at position 9) and HLA-DP beta 1 (at position 9), which are all located in peptide-binding grooves, almost completely explain the MHC association to rheumatoid arthritis risk. This study shows how imputation of functional variation from large reference panels can help fine map association signals in the MHC.
Web of Science Categories Genetics & Heredity
Funding US National Institutes of Health [K08AR055688, R01-AR44422, R01-AR057108, U01-GM092691]; Korea Healthcare Technology Research and Development Project [A102065, A111218-11-GM01]; Burroughs Wellcome Fund; Arthritis Foundation; Eileen Ludwig Greenland Center
Language English
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