Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

We examined the association between the 8.1 ancestral haplotype and delayed colonization in Cystic Fibrosis, postulating that downregulation ofRNF5 expression is the likely causal mechanism. Our study provides insights into the genetic architecture of the MHC region and pinpoints disease associations that are due to differential expression of HLA genes and non-HLA genes.
Source: eLife - Category: Biomedical Science Tags: Computational and Systems Biology Genetics and Genomics Source Type: research