Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus

Genes Immun. 2020 Jan;21(1):63-70. doi: 10.1038/s41435-019-0082-z. Epub 2019 Aug 29.

Abstract

Invasive group A streptococcal (GAS) disease is uncommon but carries a high case-fatality rate relative to other infectious diseases. Given the ubiquity of mild GAS infections, it remains unclear why healthy individuals will occasionally develop life-threatening infections, raising the possibility of host genetic predisposition. Here, we present the results of a case-control study including 43 invasive GAS cases and 1540 controls. Using HLA imputation and linear mixed models, we find each copy of the HLA-DQA1*01:03 allele associates with a twofold increased risk of disease (odds ratio 2.3, 95% confidence interval 1.3-4.4, P = 0.009), an association which persists with classical HLA typing of a subset of cases and analysis with an alternative large control dataset with validated HLA data. Moreover, we propose the association is driven by the allele itself rather than the background haplotype. Overall this finding provides impetus for further investigation of the immunogenetic basis of this devastating bacterial disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genes, MHC Class II
  • Genetic Predisposition to Disease / genetics
  • HLA Antigens / genetics*
  • HLA Antigens / immunology
  • HLA-DQ alpha-Chains / genetics*
  • HLA-DQ alpha-Chains / metabolism
  • Haplotypes
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Streptococcal Infections / immunology*
  • Streptococcus pyogenes / genetics
  • Streptococcus pyogenes / pathogenicity

Substances

  • HLA Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQA1 antigen
  • Histocompatibility Antigens Class I