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曲马多相关死亡:属于尿苷二磷酸葡萄糖醛酸基转移酶1A8(UGT1A8)、尿苷二磷酸葡萄糖醛酸基转移酶2B7(UGT2B7)、ATP结合盒转运蛋白C2(ABCC2)和溶质载体家族22成员1(SLC22A1)的代谢比率及单核苷酸多态性/插入缺失

Tramadol-related fatalities: Metabolic ratios & SNPs/INDELs belonging to UGT1A8, UGT2B7, ABCC2, and SLC22A1.

作者信息

Aly Sanaa M, Sabaouni Naoual, Hennart Benjamin, Gaulier Jean-Michel, Allorge Delphine

机构信息

Clinical Medical Sciences Department, Faculty of Medicine, King Salman International University, South Sinai, Egypt; Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

CHU Lille, Service de Toxicologie-Génopathies, UF de Pharmacogénétique, Lille 59000, France.

出版信息

Forensic Sci Int Genet. 2025 Mar;76:103218. doi: 10.1016/j.fsigen.2024.103218. Epub 2024 Dec 24.

Abstract

Genetic polymorphism can cause variation in tramadol (TR) pharmacokinetic characteristics and the expected clinical response. In forensic toxicology, the data about parent and metabolite concentrations (MRs; metabolic ratios) could facilitate to determine the cause of death and to assess time between drug intake and death. In this study, the aim was to investigate if UGT1A8, UGT2B7, ABCC2, and SLC22A1 genotyping can facilitate interpretation by investigating the frequency of UGT1A8, UGT2B7, ABCC2, and SLC22A1 genotypes in forensic autopsy cases positive for TR and to assess whether there is a correlation between these genetic variants and MRs. Cases positive for TR (n = 48) were genotyped by HaloPlex Target Enrichment system for UGT1A8, UGT2B7, ABCC2, and SLC22A1 sequencing, in order to identify single nucleotide polymorphisms (SNPs) and/or insertion deletion (INDELs). In addition to, the concentrations of TR and its metabolites (M1 & M2) were determined by LC-MS/MS. Cases were categorized by cause of death. The investigated SNPs/INDELs were not overrepresented in any group. We found significant correlations between several loci (12 out of 73) in UGT1A8, ABCC2, and SLC22A1 genes and MRs (M2/M1, TR/M2, and TR/M1) in post-mortem TR cases. These results indicate these polymorphisms in the 4 investigated genes might influence TR pharmacokinetics leading to an unsatisfactory therapeutic effect or increasing the risk of toxicity. However, these findings should be supported in future studies with larger groups of cases.

摘要

基因多态性可导致曲马多(TR)药代动力学特征及预期临床反应出现差异。在法医毒理学中,关于母体和代谢物浓度(代谢比;MRs)的数据有助于确定死因,并评估服药与死亡之间的时间间隔。本研究旨在通过调查法医尸检案例中TR呈阳性者的UGT1A8、UGT2B7、ABCC2和SLC22A1基因型频率,研究UGT1A8、UGT2B7、ABCC2和SLC22A1基因分型是否有助于解释,并评估这些基因变异与代谢比之间是否存在相关性。通过HaloPlex靶向富集系统对TR呈阳性的案例(n = 48)进行UGT1A8、UGT2B7、ABCC2和SLC22A1测序基因分型,以识别单核苷酸多态性(SNP)和/或插入缺失(INDEL)。此外,采用液相色谱-串联质谱法(LC-MS/MS)测定TR及其代谢物(M1和M2)的浓度。案例按死因进行分类。所研究的SNP/INDEL在任何组中均未过度出现。我们发现,在死后TR案例中,UGT1A8、ABCC2和SLC22A1基因中的几个位点(73个中的12个)与代谢比(M2/M1、TR/M2和TR/M1)之间存在显著相关性。这些结果表明,这4个研究基因中的这些多态性可能会影响TR的药代动力学,导致治疗效果不理想或增加毒性风险。然而,这些发现应在未来更大规模的案例研究中得到证实。

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