Smoller Jordan W, Gardner-Schuster Erica
Department of Psychiatry and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Curr Psychiatry Rep. 2007 Dec;9(6):504-11. doi: 10.1007/s11920-007-0069-8.
Family and twin studies have consistently documented that bipolar disorder (BPD) is familial and heritable, but efforts to identify specific susceptibility genes have been complicated by the disorder's genetic and phenotypic complexity. Genetic linkage studies have implicated numerous chromosomal regions, but findings have been inconsistent. As with other complex disorders, it has become clear that linkage analysis lacks the power and precision to identify susceptibility loci for BPD. Candidate gene association studies have implicated several specific genes, but these studies have been limited by our incomplete understanding of the disorder's biology, and there have been few robustly replicated results. Within the past 2 years, a major advance in the genetics of complex disease has become feasible in the form of genome-wide association studies. Such studies, which require large sample sizes, have already proven successful in identifying susceptibility variants for a range of common medical disorders. Genome-wide association studies have begun to appear for BPD, and more are in progress. By providing an unbiased approach, this technology may reveal novel biological mechanisms underlying BPD.
家族研究和双生子研究一致证明双相情感障碍(BPD)具有家族遗传性,但是由于该疾病在遗传和表型方面的复杂性,确定具体的易感基因的工作变得错综复杂。基因连锁研究表明涉及众多染色体区域,但研究结果并不一致。与其他复杂疾病一样,很明显连锁分析缺乏识别双相情感障碍易感基因座的能力和精度。候选基因关联研究表明有几个特定基因与之相关,但这些研究因我们对该疾病生物学的不完全了解而受到限制,并且几乎没有得到有力重复验证的结果。在过去两年中,全基因组关联研究形式的复杂疾病遗传学方面取得了重大进展。这类需要大样本量的研究已证明在识别一系列常见医学疾病的易感变异方面是成功的。针对双相情感障碍的全基因组关联研究已经开始出现,并且更多研究正在进行中。通过提供一种无偏差的方法,这项技术可能揭示双相情感障碍潜在的新生物学机制。