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Behcet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.


ABSTRACT: The HLA protein, HLA-B*51, encoded by HLA-B in MHC, is the strongest known genetic risk factor for Behçet disease (BD). Associations between BD and other factors within the MHC have been reported also, although strong regional linkage disequilibrium complicates their confident disentanglement from HLA-B*51. In the current study, we examined a combination of directly obtained and imputed MHC-region SNPs, directly obtained HLA-B locus types, and imputed classical HLA types with their corresponding polymorphic amino acid residues for association with BD in 1,190 cases and 1,257 controls. SNP mapping with logistic regression of the MHC identified the HLA-B/MICA region and the region between HLA-F and HLA-A as independently associated with BD (P < 1.7 × 10(-8)). HLA-B*51, -A*03, -B*15, -B*27, -

SUBMITTER: Ombrello MJ 

PROVIDER: S-EPMC4066484 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature