Kloypan Chiraphat, Koomdee Napatrupron, Satapornpong Patompong, Tempark Therdpong, Biswas Mohitosh, Sukasem Chonlaphat
Unit of Excellence in Integrative Molecular Biomedicine, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand.
Division of Clinical Immunology and Transfusion Science, Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand.
Pharmaceuticals (Basel). 2021 Oct 25;14(11):1077. doi: 10.3390/ph14111077.
Human leukocyte antigen () encoded by the gene is an important modulator for immune responses and drug hypersensitivity reactions as well. Genetic polymorphisms of 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 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 pharmacogenetics into clinical practice are underway and functional in many countries, including Thailand. Cutting edge genomic technologies may accelerate wider adoption of screening in routine clinical settings. There are great opportunities and several challenges as well for effective implementation of genotyping globally in routine clinical practice for the prevention of drug induced SCARs substantially, enforcing precision medicine initiatives.
由该基因编码的人类白细胞抗原（）是免疫反应以及药物超敏反应的重要调节因子。在人群水平上，该基因的遗传多态性差异很大，并且是导致严重皮肤药物不良反应（SCARs）的原因，如史蒂文斯 - 约翰逊综合征（SJS）、中毒性表皮坏死松解症（TEN）、伴有嗜酸性粒细胞增多和全身症状的药物反应（DRESS）、斑丘疹性皮疹（MPE）。不同的该基因等位基因与药物诱导的SJS/TEN、DRESS和MPE风险之间的关联对临床考虑具有很强的支持作用。不同国家和国际工作组制定的将该基因药物遗传学转化为临床实践的处方指南正在进行中，并且在包括泰国在内的许多国家都发挥着作用。前沿的基因组技术可能会加速在常规临床环境中更广泛地采用该基因筛查。在全球范围内的常规临床实践中有效实施该基因分型以大幅预防药物诱导的SCARs、推进精准医学计划，既存在巨大机遇，也面临诸多挑战。
