Department of Clinical and Molecular Biochemistry, Pomeranian Medical University in Szczecin, Powstańców Wielkopolskich 72 St., 70-111 Szczecin, Poland.
Independent Laboratory of Behavioral Genetics and Epigenetics, Pomeranian Medical University in Szczecin, Powstańców Wielkopolskich 72 St., 70-111 Szczecin, Poland.
Int J Mol Sci. 2024 May 9;25(10):5174. doi: 10.3390/ijms25105174.
Alcohol use disorder (AUD) is a significant issue affecting women, with severe consequences for society, the economy, and most importantly, health. Both personality and alcohol use disorders are phenotypically very complex, and elucidating their shared heritability is a challenge for medical genetics. Therefore, our study investigated the correlations between the microsatellite polymorphism (AAT)n of the Cannabinoid Receptor 1 () gene and personality traits in women with AUD. The study group included 187 female subjects. Of these, 93 were diagnosed with alcohol use disorder, and 94 were controls. Repeat length polymorphism of microsatellite regions (AAT)n in the gene was identified with PCR. All participants were assessed with the Mini-International Neuropsychiatric Interview and completed the NEO Five-Factor and State-Trait Anxiety Inventories. In the group of AUD subjects, significantly fewer (AAT)n repeats were present when compared with controls ( = 0.0380). While comparing the alcohol use disorder subjects (AUD) and the controls, we observed significantly higher scores on the STAI trait ( < 0.00001) and state scales ( = 0.0001) and on the NEO Five-Factor Inventory Neuroticism ( < 0.00001) and Openness ( = 0.0237; insignificant after Bonferroni correction) scales. Significantly lower results were obtained on the NEO-FFI Extraversion ( = 0.00003), Agreeability ( < 0.00001) and Conscientiousness ( < 0.00001) scales by the AUD subjects when compared to controls. There was no statistically significant Pearson's linear correlation between the number of (AAT)n repeats in the gene and the STAI and NEO Five-Factor Inventory scores in the group of AUD subjects. In contrast, Pearson's linear correlation analysis in controls showed a positive correlation between the number of the (AAT)n repeats and the STAI state scale (r = 0.184; = 0.011; insignificant after Bonferroni correction) and a negative correlation with the NEO-FFI Openness scale (r = -0.241; = 0.001). Interestingly, our study provided data on two separate complex issues, i.e., (1) the association of (AAT)n repeats with the AUD in females; (2) the correlation of (AAT)n repeats with anxiety as a state and Openness in non-alcohol dependent subjects. In conclusion, our study provided a plethora of valuable data for improving our understanding of alcohol use disorder and anxiety.
酒精使用障碍（AUD）是一个影响女性的重要问题，对社会、经济和最重要的健康都有严重影响。人格和酒精使用障碍在表型上都非常复杂，阐明它们的共同遗传性是医学遗传学的一个挑战。因此，我们的研究调查了女性 AUD 患者大麻素受体 1 基因（）中微卫星多态性（AAT）n 与人格特质之间的相关性。研究组包括 187 名女性受试者。其中 93 人被诊断为酒精使用障碍，94 人为对照组。使用 PCR 鉴定 基因中微卫星区域（AAT）n 的重复长度多态性。所有参与者均接受了 Mini-国际神经精神访谈，并完成了 NEO 五因素和状态-特质焦虑量表。在 AUD 组中，（AAT）n 重复次数明显少于对照组（= 0.0380）。在比较酒精使用障碍患者（AUD）和对照组时，我们观察到 STAI 特质（<0.00001）和状态量表（= 0.0001）以及 NEO 五因素量表神经质（<0.00001）和开放性（= 0.0237；经 Bonferroni 校正后无统计学意义）评分显著升高。与对照组相比，AUD 患者的 NEO-FFI 外向性（= 0.00003）、宜人性（<0.00001）和尽责性（<0.00001）评分显著降低。在 AUD 组中，基因中（AAT）n 重复次数与 STAI 和 NEO 五因素量表评分之间没有统计学意义的 Pearson 线性相关。相比之下，对照组的 Pearson 线性相关分析显示，（AAT）n 重复次数与 STAI 状态量表呈正相关（r = 0.184；= 0.011；经 Bonferroni 校正后无统计学意义），与 NEO-FFI 开放性量表呈负相关（r = -0.241；= 0.001）。有趣的是，我们的研究提供了两个独立的复杂问题的数据，即（1）（AAT）n 重复与女性 AUD 的关联；（2）（AAT）n 重复与非酒精依赖受试者的焦虑状态和开放性的相关性。总之，我们的研究为深入了解酒精使用障碍和焦虑症提供了大量有价值的数据。
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