A new study refines the association signals for rheumatoid arthritis susceptibility in the major histocompatibility complex (MHC) region to five amino-acid positions encoded in three HLA genes, all within peptide-binding grooves. By adapting statistical methods from genome-wide association studies (GWAS) and using imputation from a large reference panel, they demonstrate the potential for this approach to identify functional variants in associated regions.
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Katie Vicari
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Barrett, J. From HLA association to function. Nat Genet 44, 235–236 (2012). https://doi.org/10.1038/ng.2207
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DOI: https://doi.org/10.1038/ng.2207
