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Abstract <p>The dopaminergic system plays a key role in the regulation of emotions and motivation, and the <i>DAT1</i> gene, which encodes the dopamine transporter, is considered one of the main candidates in studies of mental vulnerability. Particular interest is focused on the rs27072 polymorphism, located in the 3'-UTR and potentially affecting expression levels, which has previously been associated with behavioral disorders, addictions, and anxiety, although data for individual ethnic groups remain limited. In the present study, 231 representatives of the Yakut population were examined, for whom rs27072 genotyping was performed using the PCR-RFLP method, along with an assessment of anxiety and depressive symptoms using the Hospital Anxiety and Depression Scale (HADS). The analysis revealed no significant differences in allele and genotype frequencies between groups with clinical manifestations and the control sample (<i>p</i> &gt; 0.4). At the same time, significant sociodemographic predictors were identified: anxiety was more frequently observed in women (OR = 4.10, <i>p</i> &lt; 0.001), whereas depression was more common in elderly individuals over 66 years of age and in participants with disability (<i>p</i> &lt; 0.05). These findings indicate that the contribution of rs27072 to susceptibility to affective disorders is not pronounced; however, the observed trends and the influence of modifying factors highlight the complexity of the pathogenesis. The results underscore the importance of further research involving larger samples, more detailed stratification, and consideration of gene–environment interactions, which may bring us closer to the development of personalized approaches to the prevention and treatment of mental disorders.</p>

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The rs27072 Polymorphism of the Dopamine Transporter Gene DAT1 and Its Contribution to Vulnerability to Affective Disorders

  • 期刊论文

  • 发表日期：

    2026年2月1日

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  • A. V. Krylov,
  • N. I. Pavlova,
  • A. A. Bochurov,
  • S. K. Kononova

摘要

Abstract

The dopaminergic system plays a key role in the regulation of emotions and motivation, and the DAT1 gene, which encodes the dopamine transporter, is considered one of the main candidates in studies of mental vulnerability. Particular interest is focused on the rs27072 polymorphism, located in the 3'-UTR and potentially affecting expression levels, which has previously been associated with behavioral disorders, addictions, and anxiety, although data for individual ethnic groups remain limited. In the present study, 231 representatives of the Yakut population were examined, for whom rs27072 genotyping was performed using the PCR-RFLP method, along with an assessment of anxiety and depressive symptoms using the Hospital Anxiety and Depression Scale (HADS). The analysis revealed no significant differences in allele and genotype frequencies between groups with clinical manifestations and the control sample (p > 0.4). At the same time, significant sociodemographic predictors were identified: anxiety was more frequently observed in women (OR = 4.10, p < 0.001), whereas depression was more common in elderly individuals over 66 years of age and in participants with disability (p < 0.05). These findings indicate that the contribution of rs27072 to susceptibility to affective disorders is not pronounced; however, the observed trends and the influence of modifying factors highlight the complexity of the pathogenesis. The results underscore the importance of further research involving larger samples, more detailed stratification, and consideration of gene–environment interactions, which may bring us closer to the development of personalized approaches to the prevention and treatment of mental disorders.