Antila Mervi, Tuulio-Henriksson Annamari, Kieseppä Tuula, Soronen Pia, Palo Outi M, Paunio Tiina, Haukka Jari, Partonen Timo, Lönnqvist Jouko
Department of Mental Health and Alcohol Research, National Public Health Institute, Helsinki, Finland.
Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):802-8. doi: 10.1002/ajmg.b.30538.
Bipolar disorder is highly heritable. Cognitive dysfunctions often observed in bipolar patients and their unaffected relatives implicate that these impairments may be associated with genetic predisposition to bipolar disorder and thus fulfill the criteria of a valid endophenotype for the disorder. However, the most fundamental criterion, their heritability, has not been directly studied in any bipolar population. This population-based study estimated the heritability of cognitive functions in bipolar disorder. A comprehensive neuropsychological test battery and the Structured Clinical Interview for DSM-IV were administered to a population-based sample of 110 individuals from 52 families with bipolar disorder. Heritability of cognitive functions as assessed with neuropsychological test scores were estimated using the Solar package. Significant additive heritabilities were found in verbal ability, executive functioning, and psychomotor processing speed. Genetic contribution was low to verbal learning functions. High heritability, in executive functioning and psychomotor processing speed suggest that these may be valid endophenotypic traits for genetic studies of bipolar disorder.
双相情感障碍具有高度遗传性。在双相情感障碍患者及其未患病亲属中经常观察到的认知功能障碍表明，这些损害可能与双相情感障碍的遗传易感性有关，因此符合该疾病有效内表型的标准。然而，最基本的标准，即它们的遗传性，尚未在任何双相情感障碍人群中进行直接研究。这项基于人群的研究估计了双相情感障碍中认知功能的遗传性。对来自52个双相情感障碍家庭的110名个体的基于人群的样本进行了全面的神经心理测试组和DSM-IV结构化临床访谈。使用Solar软件包估计了用神经心理测试分数评估的认知功能的遗传性。在语言能力、执行功能和精神运动处理速度方面发现了显著的加性遗传率。遗传对语言学习功能的贡献较低。执行功能和精神运动处理速度的高遗传性表明，这些可能是双相情感障碍基因研究的有效内表型特征。
