Huh Sung Young, Kim Sung-Gon, Kim Ji-Hoon, Kim Hyeon-Kyeong, Kim Yeon-Sue
Department of Psychiatry, Pusan National University Yangsan Hospital, 50612 Yangsan, Republic of Korea.
Department of Psychiatry, Pusan National University School of Medicine, 46639 Yangsan, Republic of Korea.
Alpha Psychiatry. 2025 Feb 28;26(1):38752. doi: 10.31083/AP38752. eCollection 2025 Feb.
Alcohol use disorder (AUD) is a common disease with a high economic cost. The glutamate cell signaling pathway associated with alcohol has been reported to be one of the main pathologies of AUD. Previous studies have suggested that , which is known to control NMDA glutamate receptor function through phosphorylation, might be associated with AUD.
The present study included 354 subjects in the alcohol-dependent group and 139 subjects in the control group. The alcohol-dependent group was recruited from five university hospitals and a psychiatric hospital, and the control group was recruited from people who visited the university hospital for routine medical checkups in Korea. gene single nucleotide polymorphism (SNPs) were selected based on SNP databases and previous studies of the gene. Ten SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism techniques.
GG genotypes and G allele frequencies of rs1058134 in male AUD patients were significantly lower than in controls ( = 0.003). AA genotypes and A allele frequencies of rs12191154 in female AUD patients were significantly lower than in controls ( < 0.001, = 0.003). In female AUD patients, AA genotypes and A allele frequencies of rs9387025 were significantly higher than in controls ( = 0.003).
These findings suggest that the gene may be a candidate gene for AUD. This may help for the planning of further studies to determine the function of each SNP and the exact relationship between the gene and AUD.
酒精使用障碍（AUD）是一种常见疾病，经济成本高昂。据报道，与酒精相关的谷氨酸细胞信号通路是AUD的主要病理之一。先前的研究表明，已知通过磷酸化控制N-甲基-D-天冬氨酸（NMDA）谷氨酸受体功能的[具体基因名称未给出]，可能与AUD有关。
本研究纳入了354名酒精依赖组受试者和139名对照组受试者。酒精依赖组从五所大学医院和一所精神病医院招募，对照组从韩国到大学医院进行常规体检的人群中招募。基于单核苷酸多态性（SNP）数据库和先前对[具体基因名称未给出]基因的研究，选择了[具体基因名称未给出]基因单核苷酸多态性。使用聚合酶链反应-限制性片段长度多态性技术对10个SNP进行基因分型。
男性AUD患者中rs1058134的GG基因型和G等位基因频率显著低于对照组（P = 0.003）。女性AUD患者中rs12191154的AA基因型和A等位基因频率显著低于对照组（P < 0.001，P = 0.003）。在女性AUD患者中，rs9387025的AA基因型和A等位基因频率显著高于对照组（P = 0.003）。
这些发现表明，[具体基因名称未给出]基因可能是AUD的候选基因。这可能有助于规划进一步的研究，以确定每个SNP的功能以及[具体基因名称未给出]基因与AUD的确切关系。
