Andreassen Ole A, Hindley Guy F L, Frei Oleksandr, Smeland Olav B
NORMENT Centre, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
World Psychiatry. 2023 Feb;22(1):4-24. doi: 10.1002/wps.21034.
Psychiatric genetics has made substantial progress in the last decade, providing new insights into the genetic etiology of psychiatric disorders, and paving the way for precision psychiatry, in which individual genetic profiles may be used to personalize risk assessment and inform clinical decision-making. Long recognized to be heritable, recent evidence shows that psychiatric disorders are influenced by thousands of genetic variants acting together. Most of these variants are commonly occurring, meaning that every individual has a genetic risk to each psychiatric disorder, from low to high. A series of large-scale genetic studies have discovered an increasing number of common and rare genetic variants robustly associated with major psychiatric disorders. The most convincing biological interpretation of the genetic findings implicates altered synaptic function in autism spectrum disorder and schizophrenia. However, the mechanistic understanding is still incomplete. In line with their extensive clinical and epidemiological overlap, psychiatric disorders appear to exist on genetic continua and share a large degree of genetic risk with one another. This provides further support to the notion that current psychiatric diagnoses do not represent distinct pathogenic entities, which may inform ongoing attempts to reconceptualize psychiatric nosology. Psychiatric disorders also share genetic influences with a range of behavioral and somatic traits and diseases, including brain structures, cognitive function, immunological phenotypes and cardiovascular disease, suggesting shared genetic etiology of potential clinical importance. Current polygenic risk score tools, which predict individual genetic susceptibility to illness, do not yet provide clinically actionable information. However, their precision is likely to improve in the coming years, and they may eventually become part of clinical practice, stressing the need to educate clinicians and patients about their potential use and misuse. This review discusses key recent insights from psychiatric genetics and their possible clinical applications, and suggests future directions.
在过去十年中,精神科遗传学取得了重大进展,为精神疾病的遗传病因提供了新的见解,并为精准精神病学铺平了道路。在精准精神病学中,个体遗传特征可用于个性化风险评估并为临床决策提供依据。长期以来人们都认识到精神疾病具有遗传性,最近的证据表明,精神疾病受到数千种共同作用的基因变异的影响。这些变异大多是常见的,这意味着每个人都有患每种精神疾病的遗传风险,风险程度从低到高。一系列大规模基因研究发现了越来越多与主要精神疾病密切相关的常见和罕见基因变异。对这些基因研究结果最有说服力的生物学解释表明,自闭症谱系障碍和精神分裂症中存在突触功能改变。然而,对其机制的理解仍不完整。鉴于精神疾病在临床和流行病学上存在广泛重叠,它们似乎存在于遗传连续体上,并且相互之间共享很大程度的遗传风险。这进一步支持了当前的精神科诊断并不代表不同致病实体的观点,这可能为正在进行的重新概念化精神科疾病分类学的尝试提供参考。精神疾病还与一系列行为和躯体特征及疾病共享遗传影响,包括脑结构、认知功能、免疫表型和心血管疾病,这表明存在具有潜在临床重要性的共同遗传病因。目前用于预测个体疾病遗传易感性的多基因风险评分工具尚未提供可用于临床的信息。然而,其精准度在未来几年可能会提高,最终可能会成为临床实践的一部分,这凸显了对临床医生和患者进行有关其潜在用途和误用教育的必要性。本综述讨论了精神科遗传学最近的关键见解及其可能的临床应用,并提出了未来的方向。