Nguyen Dinh Van, Vidal Christopher, Chu Hieu Chi, van Nunen Sheryl
Respiratory, Allergy and Clinical Immunology, Vinmec International Hospital, Times City and Vin University, Hanoi, Viet Nam.
Northern Clinical School, The University of Sydney, Sydney, Australia.
World Allergy Organ J. 2019 Jun 6;12(5):100037. doi: 10.1016/j.waojou.2019.100037. eCollection 2019.
The finding of strong associations between certain human leukocyte antigen (HLA) genotypes and the development of severe cutaneous adverse drug reactions (SCARs), [for example, HLA-B57:01 and abacavir (ABC), HLA-B15:02 and carbamazepine (CBZ) and HLA-B58:01 and allopurinol], has led to HLA screening being used to prevent SCARs. Screening has been shown to be of great benefit in a number of studies. Clinical translation from bench to bedside, however, depends upon the development of simple, rapid and cost-effective assays to detect these risk alleles. In highly populated developing countries such as Vietnam, where there is a high prevalence of HLA-B15:02 and HLA-B*58:01 correlating with a high incidence of CBZ- and allopurinol-induced SCARs, the crucial factor in the implementation of comprehensive screening programs to detect these major risk HLA alleles is the availability of suitable assays.
We have summarized the role and economic benefits of HLA screening, reviewed published HLA screening methods used currently in pharmacogenetic screening and examined the advantages and disadvantages of assays developed specifically for use in screening for risk alleles in the prevention of HLA-associated SCARs in Vietnam.
The optimal approach we propose may serve as a template for the development of screening programs in other emergent countries.
某些人类白细胞抗原（HLA）基因型与严重皮肤药物不良反应（SCARs）的发生之间存在强关联[例如，HLA - B57:01与阿巴卡韦（ABC）、HLA - B15:02与卡马西平（CBZ）以及HLA - B58:01与别嘌醇]，这使得HLA筛查被用于预防SCARs。多项研究表明筛查具有很大益处。然而，从实验室到临床的转化取决于开发简单、快速且经济高效的检测方法来检测这些风险等位基因。在越南这样人口众多的发展中国家，HLA - B15:02和HLA - B*58:01的高流行率与CBZ和别嘌醇诱导的SCARs的高发病率相关，实施全面筛查计划以检测这些主要风险HLA等位基因的关键因素是合适检测方法的可用性。
我们总结了HLA筛查的作用和经济效益，回顾了目前在药物遗传学筛查中使用的已发表的HLA筛查方法，并研究了专门为筛查风险等位基因以预防越南HLA相关SCARs而开发的检测方法的优缺点。
我们提出的最佳方法可作为其他新兴国家开展筛查计划的模板。
