Smoller Jordan W, Finn Christine T
Harvard Medical School, Boston, MA 02114, USA.
Am J Med Genet C Semin Med Genet. 2003 Nov 15;123C(1):48-58. doi: 10.1002/ajmg.c.20013.
Family, twin, and adoption studies have been essential in defining the genetic epidemiology of bipolar disorder over the past several decades. Family studies have documented that first-degree relatives of affected individuals have an excess risk of the disorder, while twin studies (and to a lesser extent, adoption studies) suggest that genes are largely responsible for this familial aggregation. We review these studies, including the magnitude of familial risk and heritability estimates, efforts to identify familial subtypes of bipolar disorder, and the implications of family/genetic data for validating nosologic boundaries. Taken together, these studies indicate that bipolar disorder is phenotypically and genetically complex.
在过去几十年里，家族、双生子和收养研究对于界定双相情感障碍的遗传流行病学至关重要。家族研究已证明，受影响个体的一级亲属患该疾病的风险更高，而双生子研究（以及在较小程度上的收养研究）表明，基因在很大程度上导致了这种家族聚集性。我们回顾这些研究，包括家族风险的大小和遗传度估计、识别双相情感障碍家族亚型的努力，以及家族/遗传数据对验证疾病分类界限的意义。综合来看，这些研究表明双相情感障碍在表型和遗传上都很复杂。
