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.

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Tissue Antigens
Department of Clinical Genetics

Adriaanse, M., Vreugdenhil, A. C. E., Groeneweg, M., Brüggenwirth, H., Castelijns, S. J. A. M., van der Ent, C., … Tilanus, M. (2014). HLA frequencies and associations in cystic fibrosis. Tissue Antigens, 83(1), 27–31. doi:10.1111/tan.12265