Céspedes Isabel Cristina, Ota Vanessa Kiyomi, Mazzotti Diego Robles, Wscieklica Tatiana, Conte Rafael, Galduróz José Carlos Fernandes, Varela Patrícia, Pesquero João Bosco, Souza-Formigoni Maria Lucia Oliveira
Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740 - 1o. andar - Edifício Leitão da Cunha, Zip code 04023-900, São Paulo, SP, Brazil.
Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740 - 1o. andar - Edifício Leitão da Cunha, Zip code 04023-900, São Paulo, SP, Brazil.
Psychiatry Res. 2021 Jan;295:113563. doi: 10.1016/j.psychres.2020.113563. Epub 2020 Nov 7.
The development of alcohol use disorder (AUD) is influenced by genetic, psychological, and social factors. However, the identification of the load of each of these factors and the association between them is still debatable. This study aimed to explore the load of the association between AUD and polymorphisms in genes of the dopaminergic system, as well as with drinking triggers. The study comprised 227 inpatients with AUD and 174 controls. The pattern and motivations for drinking were evaluated using the Alcohol Use Disorders Identification Test (AUDIT) and the Inventory of Drinking Situations (IDS). Analyses of genetic variation in genes encoding dopaminergic were performed using next generation sequencing. We observed an significant association between a polymorphism in DDC (rs11575457) and AUD. Positive reinforcement factors as urges/temptations to drink and pleasant emotion, in isolation, were the significantly related elements to drinking. In addition, negative (physical discomfort) and positive reinforcement factors (testing personal control; pleasant time with others) significantly reinforced the interaction with DDC genetic variant for increased odds of an individual presenting AUD. These results indicated a complex relationship between the dopaminergic system and the drug-seeking behavior profiles.
酒精使用障碍（AUD）的发展受到遗传、心理和社会因素的影响。然而，确定这些因素各自的影响程度以及它们之间的关联仍存在争议。本研究旨在探讨AUD与多巴胺能系统基因多态性以及饮酒触发因素之间关联的程度。该研究包括227名患有AUD的住院患者和174名对照者。使用酒精使用障碍识别测试（AUDIT）和饮酒情境量表（IDS）评估饮酒模式和动机。使用下一代测序技术对编码多巴胺能的基因进行遗传变异分析。我们观察到DDC基因多态性（rs11575457）与AUD之间存在显著关联。单独来看，积极强化因素如饮酒冲动/诱惑和愉悦情绪是与饮酒显著相关的因素。此外，消极（身体不适）和积极强化因素（测试个人自控力；与他人共度愉快时光）显著增强了与DDC基因变异的相互作用，增加了个体出现AUD的几率。这些结果表明多巴胺能系统与觅药行为特征之间存在复杂关系。
