Human leucocyte antigen association of patients with Stevens-Johnson syndrome/toxic epidermal necrolysis with severe ocular complications in Han Chinese

Br J Ophthalmol. 2022 May;106(5):610-615. doi: 10.1136/bjophthalmol-2020-317105. Epub 2021 Jan 13.

Abstract

Background/aims: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) induced by cold medicine (CM) may result in severe ocular complications (SOCs). The purpose of this study was to investigate the human leucocyte antigen (HLA) polymorphism pattern in CM-induced patients with SJS/TEN developing SOCs.

Methods: All participants, including patients with SJS/TEN (n=33) and control patients (n=98), were enrolled through visits to the clinic from 2016 to 2017. SOCs were diagnosed (n=26) via a chart review or eye examination. Patient saliva was collected with commercialised kits and genotyped with PCR assays followed by hybridisation with sequence-specific oligonucleotide (SSO) probes (PCR-SSO) using commercial bead-based typing kits.

Results: In all patients with SJS/TEN with SOCs, the HLA-A*02:07 carrier frequency was significantly higher than that in controls (OR=3.24, 95% CI=1.09 to 9.60, p=0.049), as was the genotype frequency (OR=3.89, 95% CI=1.49 to 10.16, p=0.007). In patients with CM-SJS/TEN with SOCs, the HLA-A*02:07 carrier frequency was higher than that in controls (OR=5.56, 95% CI=1.52 to 20.00, p=0.016), as was the allele frequency (OR=6.67, 95% CI=2.33 to 20.00, p=0.001). In patients with CM-SJS/TEN with SOCs, the HLA-B*46:01 allele frequency was significantly higher than that in controls (OR=3.85, 95% CI=1.52 to 10.00, p=0.008).

Conclusions: The HLA-A*02:07 and HLA-B*46:01 alleles were significantly associated with SOCs among Han Chinese patients with CM-SJS/TEN. These findings demonstrate the genetic diversity in SJS pathogenesis among different ethnic groups.

Keywords: conjunctiva; cornea; drugs; genetics; ocular surface.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China / epidemiology
  • Eye Diseases* / etiology
  • Eye Diseases* / genetics
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-A Antigens* / genetics
  • HLA-B Antigens* / genetics
  • Humans
  • Stevens-Johnson Syndrome* / complications
  • Stevens-Johnson Syndrome* / genetics

Substances

  • HLA-A Antigens
  • HLA-B Antigens