Çolak-Geniş Esra, Özdemir Erdoğan Müjdan, Çam Fethi Sırrı, Aydemir Ömer, Akin Funda, Gerik-Celebi Hamide Betül, Solak Mustafa
Department of Medical Genetics, Manisa Celal Bayar University Faculty of Medicine, Manisa, Turkey.
Department of Medical Genetics, Afyonkarahisar University of Health Sciences, Afyonkarahisar, Turkey.
Mol Syndromol. 2024 Dec;15(6):464-473. doi: 10.1159/000539115. Epub 2024 Jun 14.
Bipolar disorder (BD) is a serious psychiatric disorder characterized by mood swings (depressive and manic phases) that can strongly affect the quality of life of patients and their families. The lifetime prevalence of BD in the general population is 1%. The pathogenesis of BD is unknown; however, comprehensive epidemiological studies have shown that both genetic and environmental factors play a role. Within the scope of the current project, we aim to determine the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation.
In this study, we evaluated single nucleotide gene variants in three families ( = 6 patients) with bipolar disorder using whole-exome sequencing.
Seven genes (, , , , , , and ) were identified as possibly associated with BPD. In addition, two novel variants were presented in the (c.1214T>G) and (c.8288C>G) genes.
Prospective studies in larger patient groups are required to determine the role of these genes in the etiology of the disease and their potential in diagnosis and treatment. To the best of our knowledge, this is the first methodically comprehensive study conducted in our country and can contribute to the identification of genes that may be associated with BD and the etiopathogenesis of the disease.
双相情感障碍（BD）是一种严重的精神疾病，其特征为情绪波动（抑郁和躁狂阶段），这会严重影响患者及其家人的生活质量。双相情感障碍在普通人群中的终生患病率为1%。双相情感障碍的发病机制尚不清楚；然而，全面的流行病学研究表明，遗传因素和环境因素都发挥了作用。在当前项目的范围内，我们旨在确定导致该疾病出现的基因变化，并进行基因型与表型的关联分析。
在本研究中，我们使用全外显子测序评估了三个双相情感障碍家庭（共6名患者）中的单核苷酸基因变异。
七个基因（，，，，，，和）被确定为可能与双相情感障碍相关。此外，在基因（c.1214T>G）和基因（c.8288C>G）中发现了两个新的变异。
需要在更大的患者群体中进行前瞻性研究，以确定这些基因在该疾病病因学中的作用及其在诊断和治疗中的潜力。据我们所知，这是我国首次进行的系统全面的研究，可为鉴定可能与双相情感障碍相关的基因及其发病机制做出贡献。
