Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians

Wang, Chuang Wei; Tassaneeyakul, Wichittra; Chen, Chun Bing; Chen, Wei Ti; Teng, Yu Chuan; Huang, Chun‐Chia; Sukasem, Chonlaphat; Lu, Chun‐Wei; Lee, Yun Shien; Choon, Siew Eng; Nakkam, Nontaya; Hui, Rosaline Chung‐Yee; Huang, Yen Hua; Chang, Ya Ching; Lin, Yang Yu Wei; Chang, Chee Jen; Chiu, Tsu Man; Chantratita, Wasun; Konyoung, Parinya; Lee, Chaw Ning; Klaewsongkram, Jettanong; Rerkpattanapipat, Ticha; Amornpinyo, Warayuwadee; Saksit, Niwat; Rerknimitr, Pawinee; Huang, Yu Huei; Lin, Shujun; Hsu, Chao Kai; Chan, Cheng Chi; Lin, Yu Hui; Hung, Shuen Iu; Chung, Wen Hung

doi:10.1016/j.jaci.2020.08.003

Cited by 57 publications

(61 citation statements)

References 55 publications

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“…A multicenter case-control study collecting data from Taiwan, Thailand, and Malaysia showed a strong association between HLA-B*13:01 allele with co-trimoxazole induced SCARs (OR: 8.7, 95% CI 5.7-13.4; p = 7.2 × 10 −21) driven from SJS/TEN(OR: 2.71, 95% CI 3-5.4; p = 0.006) and DRESS (OR: 45, 95% CI 18.7-134; p = 1.1 × 10 −26 ). After meta-analysis of data from Taiwan, Thailand and Malaysia and phenotype stratification indicated a strong association between HLA-B*13:01 allele and co-trimoxazole induced DRESS (OR: 40.1, 95% CI 19.54-82.32; p < 0.00001 [181]. Another case-control study conducted only in Thai patients lead by Sukasem C et al 2020 demonstrated that genetic association of cotrimoxazole driven SCARs was phenotype-specific in which HLA-B*15:02 and HLA-C*08:01 alleles were significantly associated with cotrimoxazole induced SJS/TEN only.…”

Section: Cotrimoxazolementioning

confidence: 99%

A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine

et al. 2021

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Human leukocyte antigen (HLA) encoded by the HLA gene is an important modulator for immune responses and drug hypersensitivity reactions as well. Genetic polymorphisms of HLA vary widely at population level and are responsible for developing severe cutaneous adverse drug reactions (SCARs) such as Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), maculopapular exanthema (MPE). The associations of different HLA alleles with the risk of drug induced SJS/TEN, DRESS and MPE are strongly supportive for clinical considerations. Prescribing guidelines generated by different national and international working groups for translation of HLA pharmacogenetics into clinical practice are underway and functional in many countries, including Thailand. Cutting edge genomic technologies may accelerate wider adoption of HLA screening in routine clinical settings. There are great opportunities and several challenges as well for effective implementation of HLA genotyping globally in routine clinical practice for the prevention of drug induced SCARs substantially, enforcing precision medicine initiatives.

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Section: Cotrimoxazolementioning

confidence: 99%

A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine

et al. 2021

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“…Co-trimoxazole (CTX), the sulfamethoxazole-trimethoprim combination drug, has been known to cause SCARs, and HLA-B * 15:02 and HLA-C * 08:01 were significantly associated with CTX-induced SJS/TEN, and HLA-B * 13:01 was associated with CTX-induced DRESS in Thai population (22). Moreover, genome-wide association study in CTX hypersensitivity in collaboration of Taiwan, Thai and Malaysia confirmed that HLA-B * 13:01 was strongly associated with its SCARs (23). Recently, association between HLA * 11:01 and sulfonamide-related SCAR was shown in Japanese patients (24).…”

Section: Other Drugsmentioning

confidence: 88%

Implementation of Pharmacogenomic Information on Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

2021

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Drug-related Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are rare but severe adverse drug reactions, termed as idiosyncratic reactions; however, predicting their onset remains challenging. Pharmacogenomic information associated with SJS/TEN has accumulated on several drugs in the last 15 years, with clinically useful information now included on drug labels in several countries/regions or guidelines of the Clinical Pharmacogenetics Implementation Consortium (CPIC) for implementation. However, label information might be different among countries. This mini-review summarizes pharmacogenomic information on drug labels of five drugs in six countries and compared descriptions of drug labels and CPIC guidelines. Finally, we discuss future perspectives of this issue. Pharmacogenomic information on drug labels is not well-harmonized across countries/regions, but CPIC guidelines are a scientifically sound goal for future pharmacogenomic implementation.

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“…Recent advance in the technology of pharmacogenomic studies have showed more genetic risk factors associated with SCARs, not only in genes of HLA and other immune pathways, but also in drug metabolism or elimination. The genetic approach for the pharmacogenomics studies for SCAR has been evolved from sequencing based genotyping with polymerase chain reaction (PCR), such as HLA genotypes (15) to more comprehensive approaches, including genome-wide association study (GWAS) and next-generation sequencing (NGS), in discovering the relationship between adverse drug reactions (ADRs) and genotyping, and discovered more non-HLA loci (15)(16)(17).…”

Section: Molecular Mechanism and Susceptible Genes Related To Severe Cutaneous Adverse Reactionsmentioning

confidence: 99%

Genetics of Severe Cutaneous Adverse Reactions

et al. 2021

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Severe cutaneous adverse reactions (SCARs) including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug rash with eosinophilia and systemic symptoms (DRESS) are T cells-mediated life-threatening immune reactions, most commonly induced by drug. The last decade has seen significant progress in SCARs research. Recent studies have unveiled the pathogenesis of SCARs involved in susceptible genes, including human leukocyte antigens (HLA) and drugs-T cell receptor (TCR) interaction that may trigger T cell activation with downstream immune signaling of cytokines/chemokines and specific cytotoxic proteins releases. Advances in identification of multiple genetic alleles associated with specific drugs related SCARS in different populations is an important breakthrough in recent years for prevention of SCARs. This article summarized the findings on genetic factors related to SJS/TEN, especially for HLA.

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Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians

Cited by 57 publications

References 55 publications

A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine

A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine

Implementation of Pharmacogenomic Information on Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

Genetics of Severe Cutaneous Adverse Reactions

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