An immunogenetic basis for lung cancer risk

Science. 2024 Feb 23;383(6685):eadi3808. doi: 10.1126/science.adi3808. Epub 2024 Feb 23.

Abstract

Cancer risk is influenced by inherited mutations, DNA replication errors, and environmental factors. However, the influence of genetic variation in immunosurveillance on cancer risk is not well understood. Leveraging population-level data from the UK Biobank and FinnGen, we show that heterozygosity at the human leukocyte antigen (HLA)-II loci is associated with reduced lung cancer risk in smokers. Fine-mapping implicated amino acid heterozygosity in the HLA-II peptide binding groove in reduced lung cancer risk, and single-cell analyses showed that smoking drives enrichment of proinflammatory lung macrophages and HLA-II+ epithelial cells. In lung cancer, widespread loss of HLA-II heterozygosity (LOH) favored loss of alleles with larger neopeptide repertoires. Thus, our findings nominate genetic variation in immunosurveillance as a critical risk factor for lung cancer.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Chromosome Mapping
  • Genetic Predisposition to Disease*
  • Histocompatibility Antigens Class II* / genetics
  • Humans
  • Immunologic Surveillance* / genetics
  • Loss of Heterozygosity*
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / immunology
  • Macrophages, Alveolar / immunology
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Smoking / immunology

Substances

  • Histocompatibility Antigens Class II