Variation at HLA-DRB1 is associated with resistance to enteric fever

Nat Genet. 2014 Dec;46(12):1333-6. doi: 10.1038/ng.3143. Epub 2014 Nov 10.

Abstract

Enteric fever affects more than 25 million people annually and results from systemic infection with Salmonella enterica serovar Typhi or Paratyphi pathovars A, B or C(1). We conducted a genome-wide association study of 432 individuals with blood culture-confirmed enteric fever and 2,011 controls from Vietnam. We observed strong association at rs7765379 (odds ratio (OR) for the minor allele = 0.18, P = 4.5 × 10(-10)), a marker mapping to the HLA class II region, in proximity to HLA-DQB1 and HLA-DRB1. We replicated this association in 595 enteric fever cases and 386 controls from Nepal and also in a second independent collection of 151 cases and 668 controls from Vietnam. Imputation-based fine-mapping across the extended MHC region showed that the classical HLA-DRB1*04:05 allele (OR = 0.14, P = 2.60 × 10(-11)) could entirely explain the association at rs7765379, thus implicating HLA-DRB1 as a major contributor to resistance against enteric fever, presumably through antigen presentation.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Antigen Presentation
  • Biomarkers
  • Chromosome Mapping
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-DRB1 Chains / genetics*
  • Humans
  • Models, Statistical
  • Nepal
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Principal Component Analysis
  • Regression Analysis
  • Typhoid Fever / genetics*
  • Vietnam

Substances

  • Biomarkers
  • Genetic Markers
  • HLA-DRB1 Chains
  • HLA-DRB1*04 antigen