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The HLA-DR beta 1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations

Title
The HLA-DR beta 1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations
Author
배상철
Issue Date
2014-12
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE COMMUNICATIONS, 권: 5
Abstract
Genetic association of the major histocompatibility complex (MHC) locus is well established in systemic lupus erythematosus (SLE), but the causal functional variants in this region have not yet been discovered. Here we conduct the first fine-mapping study, which thoroughly investigates the SLE-MHC associations down to the amino acid level of major HLA genes in 5,342 unrelated Korean case-control subjects, taking advantages of HLA imputation with a newly constructed Asian HLA reference panel. The most significant association is mapped to amino acid position 13 of HLA-DR beta 1 (P = 2.48 x 10(-17)) and its proxy position 11 (P = 4.15 x 10(-17)), followed by position 26 in a stepwise conditional analysis (P = 2.42 x 10(-9)). Haplotypes defined by amino acid positions 11-13-26 support the reported effects of most classical HLA-DRB1 alleles in Asian and European populations. In conclusion, our study identifies the three amino acid positions at the epitope-binding groove of HLA-DR beta 1 that are responsible for most of the association between SLE and MHC.
URI
https://www.nature.com/articles/ncomms6902http://hdl.handle.net/20.500.11754/52728
ISSN
2041-1723
DOI
10.1038/ncomms6902
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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