Molecular Effect of Variants in Serotonin Transporter Gene in Women with Alcohol Use Disorder.

IF 5.1 2区 生物学 Q2 CELL BIOLOGY
Cells Pub Date : 2025-05-12 DOI:10.3390/cells14100699
Monika Rychel, Aleksandra Suchanecka, Jolanta Chmielowiec, Krzysztof Chmielowiec, Jacek Różański, Jolanta Masiak, Anna Grzywacz, Agnieszka Boroń
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Abstract

The dysregulation of the serotonin system has been implicated in the pathophysiology of alcohol use disorders. Meta-analytic evidence suggests a significant correlation between genetic variation in the serotonin transporter gene and the risk of alcohol dependence. Hence, we aimed to analyse the association between 5-HTTLPR polymorphism and alcohol use disorder in a group of women and to perform an interaction analysis of 5-HTTLPR variants, personality traits, and AUD. The study group comprised 213 female volunteers; 101 were diagnosed with alcohol addiction, and 112 were not dependent on any substance or behaviour. The 5-HTTLPR variants were identified by PCR, and the resulting products were separated electrophoretically. When comparing the AUD group with the controls, we observed significant differences in the distribution of 5-HTTLPR genotypes (p = 0.0230) and alleles (p = 0.0046). We also observed a significant impact of the 5-HTTLPR genotype (p = 0.0001) on the Neuroticism and Extraversion (p = 0.0037) scales. Additionally, there was a statistically significant impact of 5-HTTLPR genotype interaction and alcohol dependency or lack of it on the Neuroticism scale (p < 0.0001). The observed interaction suggests that the effect of the 5-HTTLPR on neuroticism may be exacerbated or attenuated in the presence of alcohol addiction. Further investigation is needed to elucidate the precise nature of this interaction. Still, it potentially indicates a gene-environment interaction where the genetic predisposition conferred by the 5-HTTLPR polymorphism interacts with the environmental stressor of alcohol dependence to influence neuroticism.

女性酒精使用障碍患者血清素转运基因变异的分子效应
血清素系统的失调与酒精使用障碍的病理生理有关。荟萃分析证据表明,5 -羟色胺转运基因的遗传变异与酒精依赖风险之间存在显著相关性。因此,我们的目的是分析一组女性中5-HTTLPR多态性与酒精使用障碍之间的关系,并对5-HTTLPR变异、人格特征和AUD进行相互作用分析。研究小组由213名女性志愿者组成;101人被诊断为酒精成瘾,112人不依赖任何物质或行为。用PCR方法鉴定5-HTTLPR变异体,并对产物进行电泳分离。AUD组与对照组比较,我们观察到5-HTTLPR基因型分布(p = 0.0230)和等位基因分布(p = 0.0046)存在显著差异。我们还观察到5-HTTLPR基因型对神经质和外向性量表(p = 0.0037)的显著影响(p = 0.0001)。此外,在神经质量表上,5-HTTLPR基因型相互作用与酒精依赖或缺乏酒精依赖有统计学意义(p < 0.0001)。观察到的相互作用表明,在酒精成瘾的情况下,5-HTTLPR对神经质的影响可能会加剧或减弱。需要进一步的研究来阐明这种相互作用的确切性质。尽管如此,这可能表明基因-环境相互作用,其中5-HTTLPR多态性赋予的遗传易感性与酒精依赖的环境应激源相互作用,从而影响神经质。
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来源期刊
Cells
Cells Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
9.90
自引率
5.00%
发文量
3472
审稿时长
16 days
期刊介绍: Cells (ISSN 2073-4409) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to cell biology, molecular biology and biophysics. It publishes reviews, research articles, communications and technical notes. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. Full experimental and/or methodical details must be provided.
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