HLA frequencies and associations in cystic fibrosis

Tissue Antigens. 2014 Jan;83(1):27-31. doi: 10.1111/tan.12265.

Abstract

Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF-associated diseases raises the question of an unequal distribution of HLA genotypes in CF. This study aimed to evaluate HLA gene frequencies and possible associations in CF patients compared with a control population. Frequencies of HLA-DRB1, HLA-DQA1 and HLA-DQB1, performed by intermediate resolution typing using Luminex sequence-specific oligonucleotide, and epitope counts were similar in 340 CF patients when compared with 400 control subjects. In conclusion, HLA-DRB1, -DQA1 and -DQB1 do not seem to influence susceptibility to CF. Whether HLA plays a role in the severity of CF disease needs to be investigated.

Keywords: HLA antigens; HLA-DQ alpha-chains; HLA-DQ beta-chains; HLA-DRB1 chains; cystic fibrosis; cystic fibrosis transmembrane conductance regulator.

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / immunology*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • HLA Antigens / genetics
  • HLA Antigens / immunology*
  • Humans
  • Male
  • Polymorphism, Genetic

Substances

  • HLA Antigens
  • Cystic Fibrosis Transmembrane Conductance Regulator