Nasopharyngeal carcinoma MHC region deep sequencing identifies HLA and novel non-HLA TRIM31 and TRIM39 loci

Commun Biol. 2020 Dec 11;3(1):759. doi: 10.1038/s42003-020-01487-y.

Abstract

Despite pronounced associations of major histocompatibility complex (MHC) regions with nasopharyngeal carcinoma (NPC), causal variants underlying NPC pathogenesis remain elusive. Our large-scale comprehensive MHC region deep sequencing study of 5689 Hong Kong Chinese identifies eight independent NPC-associated signals and provides mechanistic insight for disrupted transcription factor binding, altering target gene transcription. Two novel protective variants, rs2517664 (Trs2517664 = 4.6%, P = 6.38 × 10-21) and rs117495548 (Grs117495548 = 3.0%, P = 4.53 × 10-13), map near TRIM31 and TRIM39/TRIM39-RPP21; multiple independent protective signals map near HLA-B including a previously unreported variant, rs2523589 (P = 1.77 × 10-36). The rare HLA-B*07:05 allele (OR < 0.015, P = 5.83 × 10-21) is absent in NPC, but present in controls. The most prevalent haplotype lacks seven independent protective alleles (OR = 1.56) and the one with additional Asian-specific susceptibility rs9391681 allele (OR = 2.66) significantly increased NPC risk. Importantly, this study provides new evidence implicating two non-human leukocyte antigen (HLA) genes, E3 ubiquitin ligases, TRIM31 and TRIM39, impacting innate immune responses, with NPC risk reduction, independent of classical HLA class I/II alleles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Amino Acid Substitution
  • Case-Control Studies
  • Female
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genetic Variation*
  • Genome-Wide Association Study
  • HLA Antigens / chemistry
  • HLA Antigens / genetics*
  • Haplotypes
  • High-Throughput Nucleotide Sequencing
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • INDEL Mutation
  • Male
  • Middle Aged
  • Nasopharyngeal Carcinoma / diagnosis
  • Nasopharyngeal Carcinoma / genetics*
  • Polymorphism, Single Nucleotide
  • Tripartite Motif Proteins / genetics*
  • Tripartite Motif Proteins / metabolism
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism

Substances

  • HLA Antigens
  • Histocompatibility Antigens Class I
  • Tripartite Motif Proteins
  • TRIM31 protein, human
  • TRIM39 protein, human
  • Ubiquitin-Protein Ligases