Identification of HLA-A*02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-11-07

AUTHORS

Ken Nakatani, Mayumi Ueta, Seik-Soon Khor, Yuki Hitomi, Yuko Okudaira, Anri Masuya, Yuki Wada, Chie Sotozono, Shigeru Kinoshita, Hidetoshi Inoko, Katsushi Tokunaga

ABSTRACT

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. More... »

PAGES

16240

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-019-52619-2

DOI

http://dx.doi.org/10.1038/s41598-019-52619-2

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https://app.dimensions.ai/details/publication/pub.1122364202

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31700100


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29 schema:description 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.
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35 schema:keywords CM-SJS/TEN
36 HLA
37 HLA alleles
38 HLA class I
39 HLA haplotype analysis
40 HLA typing
41 HLA typing methods
42 HLA-disease association studies
43 Identification of HLA
44 Japanese healthy controls
45 Japanese population
46 NGS
47 SJS/toxic epidermal necrolysis
48 Stevens-Johnson syndrome
49 TEN patients
50 acute inflammatory vesiculobullous reactions
51 agents
52 allele determination
53 alleles
54 ambiguity
55 analysis
56 association
57 association studies
58 class I
59 cold medicine-related Stevens-Johnson syndrome
60 cold medicines
61 complications
62 control
63 conventional HLA typing methods
64 cutaneous drug reactions
65 determination
66 disease susceptibility
67 disease-causing rare variants
68 drug reactions
69 drugs
70 epidermal necrolysis
71 haplotype analysis
72 healthy controls
73 high-resolution HLA typing
74 high-resolution next-generation sequencing
75 high-risk HLA
76 identification
77 importance
78 infectious agents
79 levels
80 medicine
81 membrane
82 method
83 mucous membranes
84 necrolysis
85 next-generation sequencing
86 ocular complications
87 pathogenesis
88 patients
89 population
90 rare variants
91 reaction
92 sequencing
93 severe cutaneous drug reactions
94 severe ocular complications
95 significant association
96 skin
97 study
98 susceptibility
99 syndrome
100 toxic epidermal necrolysis
101 typing
102 typing methods
103 variants
104 schema:name Identification of HLA-A*02:06:01 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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