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巴西圣保罗暴力个体中与可卡因滥用相关的 BCHE 和 DRD3 基因的 SNPs。

SNPs from BCHE and DRD3 genes associated to cocaine abuse amongst violent individuals from Sao Paulo, Brazil.

机构信息

Department of Clinical and Toxicological Analyses, Faculty of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, Brazil; Dutch Screening Group, Maastricht, Netherlands.

Department of Legal Medicine, Ethics and Occupational Health, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil.

出版信息

Forensic Sci Int. 2020 Dec;317:110511. doi: 10.1016/j.forsciint.2020.110511. Epub 2020 Sep 18.

DOI:10.1016/j.forsciint.2020.110511
PMID:32998065
Abstract

Violence and drug abuse are highly destructive phenomena found world-wide, especially in Brazil. They seem to rise proportionally to one another and possibly related. Additionally, genetics may also play a role in drug abuse. This study has focused on identifying the use of cocaine within postmortem cases arriving at the Institute of Legal Medicine of Sao Paulo as well as the presence of certain single nucleotide polymorphisms (SNPs) to better understand one's susceptibility to abuse the drug. Both hair and blood samples have been extracted through a simple methanol overnight incubation or a rapid dilute-and-shoot method, respectively. The samples were then analyzed using an UPLC-ESI-MS/MS and genotyped through RT-PCR. Statistical analyses were performed via SPSS software. From 105 postmortem cases, 53% and 51% of the cases shown to be positive for cocaine in hair and blood, respectively. Genetic wise, a significant difference has been observed for SNP rs4263329 from the BCHE gene with higher frequencies of the genotypes A/G and G/G seen in cocaine users (OR=8.91; 95%CI=1.58-50.21; p=0.01). Likewise, also SNP rs6280 from the DRD3 gene presented a significant association, with both genotypes T/C and C/C being more frequent in users (OR=4.96; 95% CI=1.07-23.02; p=0.04). To conclude, a rather high proportion of cocaine has been found, which may suggest a connotation between the use of the drug and risky/violent behaviors. Additionally, significant associations were also found within two SNPs related to cocaine use, however, due to several inherent limitations, these must be confirmed.

摘要

暴力和药物滥用是在全球范围内普遍存在的高度破坏性现象,尤其是在巴西。它们似乎呈比例上升,而且可能相互关联。此外,遗传因素也可能在药物滥用中起作用。本研究的重点是确定在圣保罗法医研究所进行的尸检案例中可卡因的使用情况,以及某些单核苷酸多态性(SNP)的存在,以更好地了解人们对滥用药物的易感性。通过简单的甲醇过夜孵育或快速稀释和喷射方法分别提取了头发和血液样本。然后使用 UPLC-ESI-MS/MS 进行分析,并通过 RT-PCR 进行基因分型。通过 SPSS 软件进行统计分析。在 105 例尸检案例中,头发和血液中可卡因呈阳性的比例分别为 53%和 51%。从遗传学角度来看,BCHE 基因中的 SNP rs4263329 观察到显著差异,可卡因使用者的基因型 A/G 和 G/G 频率较高(OR=8.91;95%CI=1.58-50.21;p=0.01)。同样,DRD3 基因中的 SNP rs6280 也呈现出显著的相关性,使用者中 T/C 和 C/C 基因型更为常见(OR=4.96;95%CI=1.07-23.02;p=0.04)。总之,发现了相当高比例的可卡因,这可能表明该药物的使用与危险/暴力行为之间存在关联。此外,还发现了与可卡因使用相关的两个 SNP 之间存在显著关联,但由于存在若干固有局限性,这些关联还需进一步证实。

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