Belarusian State Medical University, Department of Psychiatry and Medical Psychology, Minsk, Belarus.
Institute of Genetics and Cytology of the National Academy of Sciences of the Republic of Belarus, Laboratory of Cytoplasmic Inheritance, Minsk, Belarus.
Adv Med Sci. 2019 Mar;64(1):169-173. doi: 10.1016/j.advms.2018.08.010. Epub 2019 Jan 29.
Allelic duality and functional impact of degenerate repeat at 5'- flanking promoter region in SLC6A4 gene of the serotonin transporter (5-HTTLPR), have been in the focus of investigations over the years. Various outcomes regarding an association of its polymorphism with risks of alcohol dependence syndrome (ADS) were presented. Such studies have not been conducted in the Eastern European population e.g. Belarus. We therefore checked: the association of 5-HTTLPR polymorphism with ADS, and functional impact of the polymorphism on progredience of ADS in Belarusian population.
The study involved 499 Belarusian males: 377 subjects with ADS (AG), and a control group (CG) with 122 subjects without alcohol-related problems. The ADS group was further divided into two groups of individuals with rapid (AG (R)) and delayed (AG (D)) progression of ADS. Clinical diagnosis was carried-out using ICD-10 criteria, Belarusian Addiction Severity Index, "B-ASI" and Alcohol-Use-Disorders-Identification-Test (AUDIT). PCR-RFLP analysis was performed.
There were no significant differences in the distribution of frequencies of either the 5-HTTLPR genotype or the short and long allele among AG and CG. However, the ADS 5-HTTLPR genotype and allele distribution frequencies differ significantly by the variation in progression of ADS.
There is no significant association between polymorphism of serotonin transporter gene and risk of ADS. However, the polymorphism significantly determines progredience of ASD in subjects with pathological patterns of alcohol consumption. Findings from this study carry preliminary significance as a facility to effective alcohol addiction treatment, rehabilitation and preventive services in the Eastern Europe.
在过去的几年里，血清素转运体（5-HTTLPR）基因 5'侧翼启动子区域的简并重复的等位基因对偶性和功能影响一直是研究的焦点。关于其多态性与酒精依赖综合征（ADS）风险之间的关联，已经提出了各种结果。在东欧人群（如白俄罗斯）中尚未进行此类研究。因此，我们检查了 5-HTTLPR 多态性与 ADS 的关联，以及多态性对 ADS 在白俄罗斯人群中的进展的功能影响。
该研究涉及 499 名白俄罗斯男性：377 名 ADS 患者（AG），对照组（CG）有 122 名无酒精相关问题的受试者。ADS 组进一步分为两组具有快速（AG（R））和延迟（AG（D））ADS 进展的个体。临床诊断使用 ICD-10 标准、白俄罗斯成瘾严重程度指数、“B-ASI”和酒精使用障碍识别测试（AUDIT）进行。进行 PCR-RFLP 分析。
AG 和 CG 之间 5-HTTLPR 基因型或短和长等位基因的频率分布没有显着差异。然而，ADS 5-HTTLPR 基因型和等位基因分布频率因 ADS 进展的变化而显着不同。
血清素转运体基因多态性与 ADS 风险之间没有显着关联。然而，该多态性显着决定了具有病理性饮酒模式的个体的 ASD 进展。这项研究的结果具有初步意义，可作为东欧有效治疗酒精成瘾、康复和预防服务的工具。
