Independent strong association of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement

Ueta, Mayumi; Kaniwa, Nahoko; Sotozono, Chie; Tokunaga, Katsushi; Saito, Yoshiro; Sawai, Hiromi; Miyadera, Haruo; Sugiyama, Emiko; Maekawa, Keiko; Nakamura, Ryosuke; Nagato, Masaki; Aihara, Michiko; Matsunaga, Kayoko; Takahashi, Yukitoshi; Furuya, Hirokazu; Muramatsu, Masaaki; Ikezawa, Zenrou; Kinoshita, Shigeru

doi:10.1038/srep04862

Cited by 89 publications

(151 citation statements)

References 28 publications

(32 reference statements)

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“…9 We also documented that HLA-A*02:06 with TLR3 polymorphisms exerted more than additive effects 23 and that HLA-A*02:06 with PTGER3 polymorphisms exhibited additive effects in CM-SJS/TEN with SOC. 11 Although our sample numbers were small, we found that HLA-A*02:06 with Rec114 rs16957893 CG might also exert more than additive effects in CM-SJS/TEN with SOC (OR = 110, P = 4.45 × 10 − 8 ) (Supplementary Table 5).…”

Section: Resultsmentioning

confidence: 55%

“…This is consistent with findings reported in our earlier studies; they had shown a strong association between SJS/TEN with SOC and HLA-A*02:06. 8,9,[17][18][19] Outside of the HLA region, there were 82 polymorphisms manifesting associations with Po10 − 7 in the allele frequency model. Of these, four exhibited MAF40.05 and they were located on chromosome 16.…”

Section: Resultsmentioning

confidence: 99%

“…2 Among SJS and TEN patients, especially those with SJS/TEN with SOC, cold medicines (CM), including multi-ingredient cold medications and non-steroidal anti-inflammatory drugs, were identified as causative. 2,[6][7][8][9] We reported that in the Japanese, CM-related SJS/TEN (CM-SJS/TEN) with SOC was strongly associated with HLA-A*02:06 and significantly associated with HLA-B*44:03. 9 In our first genome-wide association study (GWAS), we analyzed SJS/TEN with SOC patients using the Affymetrix GeneChip Mapping 500 K array set (Affymetrix, Santa Clara, CA, USA).…”

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

“…2,[6][7][8][9] We reported that in the Japanese, CM-related SJS/TEN (CM-SJS/TEN) with SOC was strongly associated with HLA-A*02:06 and significantly associated with HLA-B*44:03. 9 In our first genome-wide association study (GWAS), we analyzed SJS/TEN with SOC patients using the Affymetrix GeneChip Mapping 500 K array set (Affymetrix, Santa Clara, CA, USA). We found an association between prostaglandin E receptor 3 (PTGER3) and SJS/TEN with SOC.…”

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

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Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

et al. 2017

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A genome-wide association study (GWAS) for cold medicine-related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC) was performed in a Japanese population. A recently developed ethnicity-specific array with genome-wide imputation that was based on the whole-genome sequences of 1070 unrelated Japanese individuals was used. Validation analysis with additional samples from Japanese individuals and replication analysis using samples from Korean individuals identified two new susceptibility loci on chromosomes 15 and 16. This study might suggest the usefulness of GWAS using the ethnicity-specific array and genome-wide imputation based on large-scale whole-genome sequences. Our findings contribute to the understanding of genetic predisposition to CM-SJS with SOC.

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Section: Resultsmentioning

confidence: 55%

Section: Resultsmentioning

confidence: 99%

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

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Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

et al. 2017

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“…HLA-B*5701, HLA-B*5801, HLA-B*1502, HLA-A*3101, HLA-A*0206, HLA-B*4403, HLA-A29, HLA-B12, HLA-DR7, and HLA-A2 are linked to SJS drug hypersensitivity reactions. [38][39][40][41] HLA-DQB1*0601, HLA-DQA1*0103, DQB1*0301, and HLA-A*0206 are linked to ocular manifestations in SJS. 42 Genetic influences can explain why SJS occurs in multiple family members even though it is a rare condition 43 or why it recurs in certain individuals.…”

Section: Genetic Predispositionmentioning

confidence: 99%

Stevens-Johnson Syndrome without Skin Lesions: A Rare and Clinically Challenging Disease in the Urgent Setting

Anders¹,

Taylor²,

Kravchuk³

et al. 2015

Emerg Med Open J

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Stevens-Johnson syndrome, toxic epidermal necrolysis, and erythema multiforme are life threatening diseases causing mucocutaneous eruptions and can be difficult to manage medically. When oral tissues are involved, airway management can be of critical importance. Fluid and electrolyte imbalance are common and protocols to prevent secondary infection are initiated. All three conditions are rapidly evolving. Stevens-Johnson syndrome is more commonly associated with Mycoplasma pneumoniae in the pediatric population and drug hypersensitivity in adults, whereas erythema multiforme is mostly associated with herpes simplex virus in the adult population. These diseases are T-cell-mediated immune reactions, thought to represent a spectrum of the same disease. Clinical and immunohistochemical techniques are capable of differentiating Stevens-Johnson syndrome from erythema multiforme and provide insight into the possible underlying pathology creating the disease. Rare cases of Stevens-Johnson syndrome without skin manifestations have been associated with Mycoplasma pneumoniae and predominantly occur in males. In-hospital management is recommended to provide airway support, maintain fluid intake, electrolyte balance, obtain multi-speciality consultation, and to perform diagnostic testing. We describe a case of a 14 year old male with atypical Stevens-Johnson syndrome and a review of the literature.

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Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population

et al. 2018

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for the GENCAT Study Group IMPORTANCE Carbamazepine, a commonly used antiepileptic drug, is one of the most common causes of cutaneous adverse drug reactions (cADRs) worldwide. The allele HLA-A*31:01 is reportedly associated with carbamazepine-induced cADRs in Japanese and European populations; however, the clinical utility of HLA-A*31:01 has not been evaluated.OBJECTIVE To assess the use of HLA-A*31:01 genetic screening to identify Japanese individuals at risk of carbamazepine-induced cADRs.DESIGN, SETTING, AND PARTICIPANTS This cohort study was conducted across 36 hospitals in Japan from January 2012 to November 2014 among 1202 patients who had been deemed suitable to start treatment with carbamazepine. Preemptive HLA-A*31:01 genetic screening was performed for 1187 participants. Patients who did not start treatment with carbamazepine or alternative drugs were excluded. Participants were interviewed once weekly for 8 weeks to monitor the development of cADRs. Data analysis was performed from June 8, 2015, to December 27, 2016.EXPOSURES Neuropsychiatrists were asked to prescribe carbamazepine for patients who tested negative for HLA-A*31:01 and alternative drugs for those who tested positive for HLA-A*31:01. MAIN OUTCOMES AND MEASURES Incidence of carbamazepine-induced cADRs.RESULTS Of the 1130 included patients who were prescribed carbamazepine or alternative drugs, the mean (range) age was 37.4 (0-95) years, 614 (54.3%) were men, and 198 (17.5%) were positive for HLA-A*31:01. Expert dermatologists identified 23 patients (2.0%) who had carbamazepine-induced cADRs, of which 4 patients required hospitalization. Drug-induced hypersensitivity syndrome was observed for 3 patients, maculopapular eruption for 9 patients, erythema multiforme for 5 patients, and an undetermined type of cADR for 6 patients. No patient developed Stevens-Johnson syndrome or toxic epidermal necrolysis. Compared with historical controls, the incidence of carbamazepine-induced cADRs was significantly decreased (for BioBank Japan data: incidence, 3.4%; odds ratio, 0.60; 95% CI, 0.36-1.00; P = .048; for the Japan Medical Data Centre claims database: incidence, 5.1%; odds ratio, 0.39; 95% CI, 0.26-0.59; P < .001).CONCLUSIONS AND RELEVANCE Preemptive HLA-A*31:01 genetic screening significantly decreased the incidence of carbamazepine-induced cADRs among Japanese patients, which suggests that it may be warranted in routine clinical practice.

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Independent strong association of HLA-A02:06 and HLA-B44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement

Cited by 89 publications

References 28 publications

Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

Stevens-Johnson Syndrome without Skin Lesions: A Rare and Clinically Challenging Disease in the Urgent Setting

Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population

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