FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses

Nat Commun. 2020 Dec 16;11(1):6398. doi: 10.1038/s41467-020-19814-6.

Abstract

Asthma with severe exacerbation is the most common cause of hospitalization among young children. We aim to increase the understanding of this clinically important disease entity through a genome-wide association study. The discovery analysis comprises 2866 children experiencing severe asthma exacerbation between ages 2 and 6 years, and 65,415 non-asthmatic controls, and we replicate findings in 918 children from the Copenhagen Prospective Studies on Asthma in Childhood (COPSAC) birth cohorts. We identify rs281379 near FUT2/MAMSTR on chromosome 19 as a novel risk locus (OR = 1.18 (95% CI = 1.11-1.25), Pdiscovery = 2.6 × 10-9) as well as a biologically plausible interaction between functional variants in FUT2 and ABO. We further discover and replicate a potential causal mechanism behind this interaction related to S. pneumoniae respiratory illnesses. These results suggest a novel mechanism of early childhood asthma and demonstrates the importance of phenotype-specificity for discovery of asthma genes and epistasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Asthma / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Epistasis, Genetic*
  • Female
  • Fucosyltransferases / genetics*
  • Galactoside 2-alpha-L-fucosyltransferase
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Male
  • Pneumococcal Infections / genetics*
  • Polymorphism, Single Nucleotide
  • Streptococcus pneumoniae / pathogenicity

Substances

  • ABO Blood-Group System
  • Fucosyltransferases

Associated data

  • figshare/10.6084/m9.figshare.13161098.v2