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Identification of HLA-A02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing
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Identification of HLA-A02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing
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Identification of HLA-A02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing
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Journal Article
Identification of HLA-A02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing
2019
Overview
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening acute inflammatory vesiculobullous reactions of the skin and mucous membranes. These severe cutaneous drug reactions are known to be caused by inciting drugs and infectious agents. Previously, we have reported the association of
HLA-A*02:06
and
HLA-B*44:03
with cold medicine (CM)-related SJS/TEN with severe ocular complications (SOCs) in the Japanese population. However, the conventional HLA typing method (PCR-SSOP) sometimes has ambiguity in the final HLA allele determination. In this study, we performed HLA-disease association studies in CM-SJS/TEN with SOCs at 3- or 4-field level. 120 CM-SJS/TEN patients with SOCs and 817 Japanese healthy controls are HLA genotyped using the high-resolution next-generation sequencing (NGS)-based HLA typing of HLA class I genes, including
HLA-A
,
HLA-B
, and
HLA-C
. Among the alleles of HLA class I genes,
HLA-A*02:06:01
was strongly associated with susceptibility to CM-SJS/TEN (
p
= 1.15 × 10
−18
, odds ratio = 5.46). Four other alleles (
HLA-A*24:02:01
,
HLA-B*52:01:01
,
HLA-B*46:01:01
, and
HLA-C*12:02:02
) also demonstrated significant associations. HLA haplotype analyses indicated that
HLA-A*02:06:01
is primarily associated with susceptibility to CM-SJS/TEN with SOCs. Notably, there were no specific disease-causing rare variants among the high-risk HLA alleles. This study highlights the importance of higher resolution HLA typing in the study of disease susceptibility, which may help to elucidate the pathogenesis of CM-SJS/TEN with SOCs.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ Adult
/ Alleles
/ Female
/ Genetic Predisposition to Disease - genetics
/ High-Throughput Nucleotide Sequencing
/ Histocompatibility antigen HLA
/ Humanities and Social Sciences
/ Humans
/ Male
/ Polymorphism, Single Nucleotide
/ Science
/ Stevens-Johnson Syndrome - etiology
