浙江大学Shaohua Hu等研究人员合作总结了双相情感障碍遗传研究的进展及意义。2024年1月11日，《神经科学通报》杂志在线发表了这项成果。

研究人员表示，随着基因测序技术的进步，包括全基因组关联研究、多基因风险评分和高通量测序，在绘制双相情感障碍（BD）遗传模型的详细蓝图方面取得了巨大的进展。迄今为止，人们已经发现了一些有趣的遗传线索来解释双相情感障碍的发病过程，以及可用于易感性预测和药物基因干预的遗传关联。已发现的BD风险基因，如CACNA1C、ANK3、TRANK1和CLOCK，参与了与BD相关的各种病理生理过程。

尽管这些基因的具体作用尚未确定，但有关BD的基因研究将有助于改善临床实践中的预防、治疗和预后。

研究人员分析了最新的临床前和临床研究以及BD遗传学综述，旨在总结这一引人入胜的领域所取得的进展，并为个体化、精确和有效的临床实践提供展望。

附：英文原文

Title: Progress and Implications from Genetic Studies of Bipolar Disorder

Author: Kong, Lingzhuo, Chen, Yiqing, Shen, Yuting, Zhang, Danhua, Wei, Chen, Lai, Jianbo, Hu, Shaohua

Issue&Volume: 2024-01-11

Abstract: With the advancements in gene sequencing technologies, including genome-wide association studies, polygenetic risk scores, and high-throughput sequencing, there has been a tremendous advantage in mapping a detailed blueprint for the genetic model of bipolar disorder (BD). To date, intriguing genetic clues have been identified to explain the development of BD, as well as the genetic association that might be applied for the development of susceptibility prediction and pharmacogenetic intervention. Risk genes of BD, such as CACNA1C, ANK3, TRANK1, and CLOCK, have been found to be involved in various pathophysiological processes correlated with BD. Although the specific roles of these genes have yet to be determined, genetic research on BD will help improve the prevention, therapeutics, and prognosis in clinical practice. The latest preclinical and clinical studies, and reviews of the genetics of BD, are analyzed in this review, aiming to summarize the progress in this intriguing field and to provide perspectives for individualized, precise, and effective clinical practice.

DOI: 10.1007/s12264-023-01169-9

Source: https://link.springer.com/article/10.1007/s12264-023-01169-9