Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Bologna, Italy.
Methods Mol Biol. 2021;2201:3-13. doi: 10.1007/978-1-0716-0884-5_1.
The human μ-opioid receptor gene (OPRM1 ), due to its genetic and structural variation, has been a target of interest in several pharmacogenetic studies. The μ-opioid receptor (MOR ), encoded by OPRM1 , contributes to regulate the analgesic response to pain and also controls the rewarding effects of many drugs of abuse, including opioids, nicotine, and alcohol. Genetic polymorphisms of opioid receptors are candidates for the variability of clinical opioid effects. The non-synonymous polymorphism A118G of the OPRM1 has been repeatedly associated with the efficacy of treatments for pain and various types of dependence. Genetic analysis of human opioid receptors has evidenced the presence of numerous polymorphisms either in exonic or in intronic sequences as well as the presence of synonymous coding variants that may have important effects on transcription, mRNA stability, and splicing, thus affecting gene function despite not directly disrupting any specific residue. Genotyping of opioid receptors is still in its infancy and a relevant progress in this field can be achieved by using advanced gene sequencing techniques described in this review that allow researchers to obtain vast quantities of data on human genomes and transcriptomes in a brief period of time and with affordable costs.
人类 μ 阿片受体基因（OPRM1）由于其遗传和结构的变异，一直是许多药物遗传学研究的关注目标。μ 阿片受体（MOR）由 OPRM1 编码，有助于调节对疼痛的镇痛反应，也控制着许多滥用药物的奖赏效应，包括阿片类药物、尼古丁和酒精。阿片受体的遗传多态性是临床阿片类药物作用变异性的候选因素。OPRM1 的非 synonymous 多态性 A118G 与疼痛治疗效果和各种类型的依赖的变异性反复相关。人类阿片受体的遗传分析表明，无论是在外显子还是内含子序列中都存在许多多态性，以及存在同义编码变异体，这些可能对转录、mRNA 稳定性和剪接有重要影响，从而影响基因功能，尽管它们不会直接破坏任何特定的残基。阿片受体的基因分型仍处于起步阶段，通过使用本综述中描述的先进基因测序技术可以取得相关进展，这些技术允许研究人员在短时间内以可承受的成本获得大量人类基因组和转录组数据。
