Pombo Samuel, de Quinhones Levy Pilar, Bicho Manuel, Barbosa António, Ismail Fátima, Cardoso Neves
Serviço de Psiquiatria, Hospital de Santa Maria, Faculdade Medicina de Lisboa, Lisbon.
Acta Med Port. 2008 Nov-Dec;21(6):539-46. Epub 2009 Mar 24.
Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allowing the higher or lower expression of related aggressive behaviours. The pathogenesis of alcoholism and anti-social behaviour has been connected to serotonergic system dysfunction, given support to examine the association with 44-basepair insertion/deletion polymorphism of serotonin gene transporter (5-HTT). The study aims to assess the relationship between 5-HHTLPR polymorphism, aggressive behaviour and alcohol consumption pattern. There were recruited 97 alcohol dependent patients from the alcoholism unit (Etilo-Risco) of the Psychiatric Service of Santa Maria Hospital. Blood for DNA extraction and clinical and behavioural information was collected during the therapeutic program. Regarding 5-HTTLPR polymorphism prevalence in alcoholic population, 30.7% were homozygotic to l allele, 19.8% were homozygotic to s allele and 49.5% were heterozygotic l/s. Alcoholic patients carrying the l allele from 5-HTTLPR genotype showed significant lower scores of aggressivity during acute alcohol consumption, and alcoholic patients carrying the s allele showed significant higher scores of aggressivity (during acute alcohol consumption and abstinence), however, the results were not significant. The association between the functional nature of the s allele of 5-HTTLPR polymorphism with aggressive behaviour is in agreement with the general models of aggressivity that report low levels of central serotonergic activity related to impulsive and anti-social behaviours. The results demonstrate an association between 5-HTTLPR polymorphism and the auto and heteroaggressive behaviour in alcohol dependent population, particularly when aggressivity appears under acute alcohol consumption. During acute alcohol consumption stage, the presence of the l allele may act as a protective factor of aggressive behaviour risk, whereas the results tendency showed the s allele as susceptibility factor. Data suggests that the presence of s allele may confer a genetic vulnerability factor to the development of aggressive behaviour in alcohol dependent subjects, specially, in interaction with acute alcohol consumption stage.
酒精中毒的遗传因素影响酒精依赖的表型异质性，使得相关攻击行为有较高或较低的表现。酒精中毒和反社会行为的发病机制与血清素能系统功能障碍有关，这为研究血清素基因转运体（5-HTT）的44碱基对插入/缺失多态性之间的关联提供了支持。该研究旨在评估5-HHTLPR多态性、攻击行为和饮酒模式之间的关系。从圣玛丽亚医院精神科的酒精中毒科室（Etilo-Risco）招募了97名酒精依赖患者。在治疗项目期间收集用于DNA提取的血液以及临床和行为信息。关于酒精人群中5-HTTLPR多态性的患病率，30.7%为l等位基因纯合子，19.8%为s等位基因纯合子，49.5%为l/s杂合子。携带5-HTTLPR基因型l等位基因的酒精患者在急性饮酒期间攻击性行为得分显著较低，而携带s等位基因的酒精患者（在急性饮酒期间和戒酒期间）攻击性行为得分显著较高，然而，结果并不显著。5-HTTLPR多态性s等位基因的功能性质与攻击行为之间的关联与攻击性行为的一般模型一致，该模型报告与冲动和反社会行为相关的中枢血清素能活性水平较低。结果表明5-HTTLPR多态性与酒精依赖人群的自我和异质性攻击行为之间存在关联，特别是当攻击性行为出现在急性饮酒期间时。在急性饮酒阶段，l等位基因的存在可能作为攻击行为风险的保护因素，而结果趋势表明s等位基因为易感因素。数据表明，s等位基因的存在可能赋予酒精依赖受试者攻击行为发展的遗传易感性因素，特别是在与急性饮酒阶段相互作用时。
