Department of Psychiatry, University of Pennsylvania School of Medicine, Center for Neurobiology and Behavior, Philadelphia, 19104, USA.
Curr Psychiatry Rep. 2010 Dec;12(6):539-46. doi: 10.1007/s11920-010-0150-6.
Major depressive disorder (MDD) is a common psychiatric illness with high levels of morbidity and mortality. Despite intensive research during the past several decades, the neurobiological basis and pathophysiology of depressive disorders remain unknown. Genetic factors play important roles in the development of MDD, as indicated by family, twin, and adoption studies, and may reveal important information about disease mechanisms. This article describes recent developments in the field of psychiatric genetics, with a focus on MDD. Early twin studies, linkage studies, and association studies are discussed. Recent findings from genome-wide association studies are reviewed and future directions discussed. Despite all efforts, thus far, no single genetic variation has been identified to increase the risk of depression substantially. Genetic variants are expected to have only small effects on overall disease risk, and multiple genetic factors in conjunction with environmental factors are likely necessary for the development of MDD. Future large-scale studies are needed to dissect this complex phenotype and to identify pathways involved in the etiology of MDD.
重性抑郁障碍（MDD）是一种常见的精神疾病，发病率和死亡率都很高。尽管在过去几十年中进行了深入研究，但抑郁障碍的神经生物学基础和病理生理学仍不清楚。遗传因素在 MDD 的发展中起着重要作用，这一点可以从家族、双胞胎和收养研究中得到证实，并且可能揭示有关疾病机制的重要信息。本文描述了精神遗传学领域的最新进展，重点是 MDD。讨论了早期的双胞胎研究、连锁研究和关联研究。回顾了全基因组关联研究的最新发现，并讨论了未来的方向。尽管迄今为止已经付出了所有努力，但尚未发现任何单一的遗传变异可以显著增加患抑郁症的风险。遗传变异预计对整体疾病风险的影响很小，并且 MDD 的发生可能需要多个遗传因素与环境因素共同作用。未来需要进行大规模研究来剖析这种复杂的表型，并确定与 MDD 病因相关的途径。
