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HLA Region

Definition
AI-generated

The HLA region is the human major histocompatibility complex (MHC) on the short arm of chromosome 6 (6p21.3), encoding highly polymorphic class I and II molecules that present peptides to T cells, plus embedded class III and neighboring immune-related genes.

Topics
Population genetics
Synonyms
Human leukocyte antigen region
Related
Extended MHC Region Genome-Wide Association Study (GWAS) High LD Regions

Why it matters in GWAS

HLA associations dominate many immune and autoimmune GWAS signals; SNP-only models are underpowered or biased without HLA imputation or classical typing, and fine-mapping must disentangle multiple correlated amino-acid effects. Ancestry strongly shifts haplotype frequencies, affecting trans-ancestry comparison and polygenic models that include the region.

Example usage

"We augmented the array SNPs with HLA imputation to resolve class II residues in the HLA region associated with drug hypersensitivity."

Extended MHC Region Genome-Wide Association Study (GWAS) High LD Regions Imputation Reference Panel Linkage Disequilibrium (LD) MHC Region Trans-Ancestry GWAS
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References

  • de Bakker PI, et al. (2006). A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet.
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