Mathews Carol A, Reus Victor I
Department of Psychiatry at the University of California, San Diego, San Diego, California, USA.
CNS Spectr. 2003 Dec;8(12):891-904. doi: 10.1017/s1092852900028686.
Bipolar disorder is an etiologically complex syndrome that is clearly heritable. Multiple genes, working singly or in concert, are likely to cause susceptibility to bipolar disorder. Bipolar disorder genetics has progressed rapidly in the last few decades. However, specific causal genetic mutations for bipolar disorder have not been identified. Both candidate gene studies and complete genome screens have been conducted. They have provided compelling evidence for several potential bipolar disorder susceptibility loci in several regions of the genome. The strongest evidence suggests that bipolar disorder susceptibility loci may lie in one or more genomic regions on chromosomes 18, 4, and 21. Other regions of interest, including those on chromosomes 5 and 8, are also under investigation. New approaches, such as the use of genetically isolated populations and the use of endophenotypes for bipolar disorder, hold promise for continued advancement in the search to identify specific bipolar disorder genes.
双相情感障碍是一种病因复杂且具有明显遗传性的综合征。多个基因单独或协同作用，可能导致对双相情感障碍的易感性。在过去几十年里，双相情感障碍遗传学进展迅速。然而，尚未确定双相情感障碍的特定致病基因突变。已经开展了候选基因研究和全基因组筛查。它们为基因组几个区域中的几个潜在双相情感障碍易感基因座提供了有力证据。最有力的证据表明，双相情感障碍易感基因座可能位于18号、4号和21号染色体上的一个或多个基因组区域。其他感兴趣的区域，包括5号和8号染色体上的区域，也在研究中。新的方法，如使用基因隔离人群和使用双相情感障碍的内表型，有望在寻找特定双相情感障碍基因方面继续取得进展。
