IKZF1, a new susceptibility gene for cold medicine–related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement

Ueta, Mayumi; Sawai, Hiromi; Sotozono, Chie; Hitomi, Yuki; Kaniwa, Nahoko; Kim, Mee Kum; Seo, Kyoung Yul; Yoon, Kyung Chul; Joo, Choun Ki; Kannabiran, Chitra; Wakamatsu, Tais Hitomi; Sangwan, Veena; Rathi, Varsha M; Basu, Sayan; Ozeki, Takeshi; Mushiroda, Taisei; Sugiyama, Emiko; Maekawa, Keiko; Nakamura, Ryosuke; Aihara, Michiko; Matsunaga, Kayoko; Sekine, Akihiro; Gomes, José Álvaro Pereira; Hamuro, Junji; Saito, Yoshiro; Kubo, Michiaki; Kinoshita, Shigeru; Tokunaga, Katsushi

doi:10.1016/j.jaci.2014.12.1916

Cited by 54 publications

(112 citation statements)

References 41 publications

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“…11 A second GWAS using the Affymetrix AXIOM Genome-Wide ASI 1 array (Affymetrix) identified the association between IKAROS family zinc-finger 1 (IKZF1) and CM-SJS/TEN with SOC in the Japanese. 7 These findings were indicative of a genetic predisposition for CM-SJS/TEN with SOC.…”

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 95%

“…7 SOC patients were defined as those with ocular sequelae such as severe dry eye, trichiasis, symblepharon and conjunctival invasion into the cornea in the chronic stage, 5 and as patients who manifested severe conjunctivitis with pseudomembranes and epithelial defects on the ocular surface (cornea and/or conjunctiva) in the acute stage. 14 We have classified the patients who had taken CMs such as non-steroidal anti-inflammatory drugs and multi-ingredient cold medications for a few-several days before the disease onset for common-cold symptoms as CM-SJS/TEN.…”

Section: Materials and Methods Patientsmentioning

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%

“…13 We posited that whole-genome imputation with the Japonica array would increase the statistical power for detecting associated variants of CM-SJS/TEN with SOC than was possible with the AXIOM Genome-wide ASI 1 array we reported previously. 7 In the current study, we performed GWAS using the Japonica array and imputation with the 1KJPN panel (Tohoku Medical Megabank Organization constructed the reference panel) to look for additional genetic predispositions for CM-SJS/TEN with SOC in the Japanese population.…”

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

“…7 We used the Japonica SNP array 12 according to the manufacturer's instructions. All genotyped samples passed the recommended sample quality control metric for the AXIOM arrays (dish QC40.82); we excluded three control samples with an overall call rate o97%.…”

Section: Gwas Imputation With 1kjpn and Validation Analysismentioning

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: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 95%

Section: Materials and Methods Patientsmentioning

confidence: 99%

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

Section: Stevens-johnson Syndrome (Sjs)mentioning

confidence: 99%

Section: Gwas Imputation With 1kjpn and Validation Analysismentioning

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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Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population

et al. 2017

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IMPORTANCE Describing the association with human leukocyte antigen (HLA) alleles could facilitate the understanding of increased risk factors for development of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients with severe ocular complications (SOCs). OBJECTIVE To investigate the association between HLA class I genes and cold medicine (CM)-associated SJS/TEN with SOCs. DESIGN, SETTING, AND PARTICIPANTS This case-control study was conducted between February 8, 2013, and August 29, 2014. Thirty-nine Brazilian patients with CM-SJS/TEN of 74 patients with SJS/TEN with SOCs and 133 healthy Brazilian volunteers were enrolled. Human leukocyte antigen class I genes (HLA-A, HLA-B, and HLA-C) were examined to determine whether there was a genetic predisposition for CM-SJS/TEN with SOC. Patients were interviewed to identify possible etiologic factors. Data analysis was performed from April 14, 2013, to August 29, 2014. MAIN OUTCOMES AND MEASURES Genetic predisposition for CM-SJS/TEN with SOCs by analysis of HLA class I genes. RESULTSOf 74 patients included in the analysis, 32 (43%) were male; mean (SD) age was 36.

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Prediction of Drug-Induced Adverse Reactions: Skin Hypersensitivity and Liver Toxicity

Kiyotani

2015

Immunopharmacogenomics

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IKZF1, a new susceptibility gene for cold medicine–related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement

Cited by 54 publications

References 41 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

Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population

Prediction of Drug-Induced Adverse Reactions: Skin Hypersensitivity and Liver Toxicity

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