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Extended MHC Region

Definition
AI-generated

The extended MHC (xMHC) is a larger segment of human chromosome 6 encompassing the classical HLA / MHC genes plus flanking immune, metabolic, and signaling loci—still characterized by complex haplotype structure and elevated linkage disequilibrium relative to genome-wide averages.

Topics
Population genetics
Related
Fine-Mapping Genome-Wide Association Study (GWAS) High LD Regions

Why it matters in GWAS

Signals attributed to “the MHC” sometimes arise from xMHC genes outside classical class I/II; long-range LD and shared ancestry haplotypes can produce correlated associations across megabases. Fine-mapping and HLA-aware modeling are needed to assign evidence to specific genes or residues.

Example usage

"Conditional analyses suggested part of the extended MHC region signal was driven by a variant outside the classical class II genes."

Fine-Mapping Genome-Wide Association Study (GWAS) High LD Regions HLA Region Linkage Disequilibrium (LD) MHC Region
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References

  • Horton R, et al. (2004). Gene map of the extended human MHC. Nat Rev Genet.
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