Mamdani Firoza, Jaitovich Groisman Iris, Alda Martin, Turecki Gustavo
Douglas Hospital Research Centre, 6875 LaSalle Boulevard, Verdun, Quebec H4H 1R3, Canada.
Curr Psychiatry Rep. 2003 Dec;5(6):484-92. doi: 10.1007/s11920-003-0088-z.
The importance of genes in the etiology of bipolar disorder has been substantiated through family, twin, and adoption studies. Bipolar disorder is treated at the prophylactic and episodic levels; lithium is one of the most common forms of prophylactic treatment. Recently, pharmacogenetics has come to play an active role in the elucidation of genetic factors that may play a role in modulating lithium response. This strategy has provided hope for advancements in understanding the genetics of lithium-responsive bipolar disorder. This review encompasses studies that have used populations of lithium responders and non-responders to carry out family, linkage, or association studies, as well as some insight into possible mechanisms by which lithium produces its prophylactic effect. Although data examining the pharmacogenetics of bipolar disorder remain scarce, this is a promising avenue of investigation to help genetically define more homogeneous populations or to search for genetic predictors of drug response.
通过家族、双生子和收养研究，基因在双相情感障碍病因学中的重要性已得到证实。双相情感障碍在预防和发作期进行治疗；锂盐是最常见的预防性治疗形式之一。最近，药物遗传学在阐明可能在调节锂盐反应中起作用的遗传因素方面发挥了积极作用。这一策略为理解锂盐反应性双相情感障碍的遗传学进展带来了希望。这篇综述涵盖了利用锂盐反应者和无反应者群体进行家族、连锁或关联研究的相关研究，以及对锂盐产生预防作用的可能机制的一些见解。尽管研究双相情感障碍药物遗传学的数据仍然稀少，但这是一个有前景的研究途径，有助于从遗传学角度定义更同质的群体或寻找药物反应的遗传预测指标。
