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Fulltext Suxamethonium sensitivity -- yet another case

Sivaneswaran N, Inbasegaran K

Med J Malaysia, 1982 Dec;37(4):298-9.
PMID: 7167078

Abnormal variants of plasma cholinesterase are a rarity in this region and to date there is only one reported case of suxamethonium sensitivity in a Malaysian population. We now report a case of a Malaysian Chinese patient who received suxamethonium, developed prolonged apnoea and on investigation found to be a homozygote for the silent gene. His family was screened for abnormal variants of plasma cholinesterase. The results are discussed.

Matched MeSH terms: Drug Hypersensitivity/genetics*
Fulltext Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions

Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, et al.

Epilepsia, 2014 Apr;55(4):496-506.
PMID: 24597466 DOI: 10.1111/epi.12564

To systematically review evidence on genetic risk factors for carbamazepine (CBZ)-induced hypersensitivity reactions (HSRs) and provide practice recommendations addressing the key questions: (1) Should genetic testing for HLA-B*15:02 and HLA-A*31:01 be performed in patients with an indication for CBZ therapy to reduce the occurrence of CBZ-induced HSRs? (2) Are there subgroups of patients who may benefit more from genetic testing for HLA-B*15:02 or HLA-A*31:01 compared to others? (3) How should patients with an indication for CBZ therapy be managed based on their genetic test results?

Matched MeSH terms: Drug Hypersensitivity/genetics*
Fulltext Incidental pharmacogenetics findings in an HLA-related research: Considerations for primary prevention

Bakhtiar MF, Too CL, Tang MM, Sulaiman S, Tan LK, Ahmad-Fauzi NA, et al.

Clin Exp Allergy, 2019 04;49(4):537-540.
PMID: 30693574 DOI: 10.1111/cea.13347
Matched MeSH terms: Drug Hypersensitivity/genetics
Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians

Wang CW, Tassaneeyakul W, Chen CB, Chen WT, Teng YC, Huang CY, et al.

J Allergy Clin Immunol, 2021 04;147(4):1402-1412.
PMID: 32791162 DOI: 10.1016/j.jaci.2020.08.003

BACKGROUND: Co-trimoxazole, a sulfonamide antibiotic, is used to treat a variety of infections worldwide, and it remains a common first-line medicine for prophylaxis against Pneumocystis jiroveci pneumonia. However, it can cause severe cutaneous adverse reaction (SCAR), including Stevens-Johnson syndrome, toxic epidermal necrolysis, and drug reaction with eosinophilia and systemic symptoms. The pathomechanism of co-trimoxazole-induced SCAR remains unclear.
OBJECTIVE: We aimed to investigate the genetic predisposition of co-trimoxazole-induced SCAR.
METHODS: We conducted a multicountry case-control association study that included 151 patients with of co-trimoxazole-induced SCAR and 4631 population controls from Taiwan, Thailand, and Malaysia, as well as 138 tolerant controls from Taiwan. Whole-genome sequencing was performed for the patients and population controls from Taiwan; it further validated the results from Thailand and Malaysia.
RESULTS: The whole-genome sequencing study (43 case patients vs 507 controls) discovered that the single-nucleotide polymorphism rs41554616, which is located between the HLA-B and MICA loci, had the strongest association with co-trimoxazole-induced SCAR (P = 8.2 × 10-9; odds ratio [OR] = 7.7). There were weak associations of variants in co-trimoxazole-related metabolizing enzymes (CYP2D6, GSTP1, GCLC, N-acetyltransferase [NAT2], and CYP2C8). A replication study using HLA genotyping revealed that HLA-B∗13:01 was strongly associated with co-trimoxazole-induced SCAR (the combined sample comprised 91 case patients vs 2545 controls [P = 7.2 × 10-21; OR = 8.7]). A strong HLA association was also observed in the case patients from Thailand (P = 3.2 × 10-5; OR = 3.6) and Malaysia (P = .002; OR = 12.8), respectively. A meta-analysis and phenotype stratification study further indicated a strong association between HLA-B∗13:01 and co-trimoxazole-induced drug reaction with eosinophilia and systemic symptoms (P = 4.2 × 10-23; OR = 40.1).
CONCLUSION: This study identified HLA-B∗13:01 as an important genetic factor associated with co-trimoxazole-induced SCAR in Asians.

Matched MeSH terms: Drug Hypersensitivity/genetics*