Next-Generation Sequencing and Genotype Association Studies Reveal the
Association of HLA-DRB3*02:02 With Delayed Hypersensitivity to
Penicillins
Abstract
Background: Nonimmediate (delayed) allergic reactions to penicillins are
common and some of them can be life-threatening. The genetic factors
influencing these reactions are unknown/poorly known/poorly understood.
We assessed the genetic predictors of a delayed penicillin allergy that
cover the HLA loci. Methods: Using next-generation sequencing (NGS), we
genotyped the MHC region in 24 patients with delayed hypersensitivity
compared with 20 patients with documented immediate hypersensitivity to
penicillins recruited in Italy. Subsequently, we analyzed in silico
Illumina Immunochip genotyping data that covered the HLA loci in 98
Spanish patients with delayed hypersensitivity and 315 with immediate
hypersensitivity compared to 1,308 controls. Results: The two alleles
DRB3*02:02:01:02 and DRB3*02:02:01:01 were reported in twenty cases with
delayed reactions (83%) and ten cases with immediate reactions (50%),
but not in the Allele Frequency Net Database. Bearing at least one of
the two alleles increased the risk of delayed reactions compared to
immediate reactions, with an OR of 8.88 (95% CI, 3.37–23.32; P
<0.0001). The haplotype (ACAA) from rs9268835, rs6923504,
rs6903608, and rs9268838 genetic variants of the HLA-DRB3 genomic region
was significantly associated with an increased risk of delayed
hypersensitivity to penicillins (OR, 1.7; 95% CI: 1.06–1.92; P=0.001),
but not immediate hypersensitivity. Conclusion: We showed that the
HLA-DRB3 locus is strongly associated with an increased risk of delayed
penicillin hypersensitivity, at least in Southwestern Europe. The
determination of HLA-DRB3*02:02 alleles in the risk management of severe
delayed hypersensitivity to penicillins should be evaluated further in
larger population samples of different origins.