作者: Effie W. Petersdorf , Colm O'hUigin
DOI: 10.1016/J.HUMIMM.2018.10.002
关键词:
摘要: The MHC continues to have the most disease-associations compared other regions of human genome, even in genome-wide association study (GWAS) and single nucleotide polymorphism (SNP) era. Analysis non-coding variation their impact on level expression HLA allotypes has shed new light potential mechanisms underlying disease associations alloreactivity transplantation. Next-generation sequencing (NGS) technology capability delineating phase variants antigen-recognition site (ARS) with regulatory polymorphisms. These relationships are critical for understanding qualitative quantitative implications gene diversity. This article summarizes current region loci, consequences expression, role evolution shaping lineage-specific susceptibility transplantation outcomes. A phased methods MHC, perspectives future directions basic applied immunogenetic studies presented.