Zilhão N R, Olthof M C, Smit D J A, Cath D C, Ligthart L, Mathews C A, Delucchi K, Boomsma D I, Dolan C V
Department of Biological Psychology,Vrije Universiteit,Amsterdam,The Netherlands.
Department of Psychology,University of Amsterdam,The Netherlands.
Psychol Med. 2017 Apr;47(6):1085-1096. doi: 10.1017/S0033291716002981. Epub 2016 Dec 15.
Genetic-epidemiological studies that estimate the contributions of genetic factors to variation in tic symptoms are scarce. We estimated the extent to which genetic and environmental influences contribute to tics, employing various phenotypic definitions ranging between mild and severe symptomatology, in a large population-based adult twin-family sample.
In an extended twin-family design, we analysed lifetime tic data reported by adult mono- and dizygotic twins (n = 8323) and their family members (n = 7164; parents and siblings) from 7311 families in the Netherlands Twin Register. We measured tics by the abbreviated version of the Schedule for Tourette and Other Behavioral Syndromes. Heritability was estimated by genetic structural equation modeling for four tic disorder definitions: three dichotomous and one trichotomous phenotype, characterized by increasingly strictly defined criteria.
Prevalence rates of the different tic disorders in our sample varied between 0.3 and 4.5% depending on tic disorder definition. Tic frequencies decreased with increasing age. Heritability estimates varied between 0.25 and 0.37, depending on phenotypic definitions. None of the phenotypes showed evidence of assortative mating, effects of shared environment or non-additive genetic effects.
Heritabilities of mild and severe tic phenotypes were estimated to be moderate. Overlapping confidence intervals of the heritability estimates suggest overlapping genetic liabilities between the various tic phenotypes. The most lenient phenotype (defined only by tic characteristics, excluding criteria B, C and D of DSM-IV) rendered sufficiently reliable heritability estimates. These findings have implications in phenotypic definitions for future genetic studies.
估计遗传因素对抽动症状变异贡献的遗传流行病学研究较少。我们在一个基于人群的大型成年双胞胎-家庭样本中,采用了从轻度到重度症状学的各种表型定义,估计了遗传和环境影响对抽动的贡献程度。
在一个扩展的双胞胎-家庭设计中,我们分析了来自荷兰双胞胎登记处7311个家庭的成年单卵和双卵双胞胎(n = 8323)及其家庭成员(n = 7164;父母和兄弟姐妹)报告的终生抽动数据。我们通过抽动秽语和其他行为综合征量表的简化版来测量抽动。通过遗传结构方程模型对四种抽动障碍定义估计遗传力:三种二分法和一种三分法表型,其特征是标准定义越来越严格。
根据抽动障碍定义,我们样本中不同抽动障碍的患病率在0.3%至4.5%之间变化。抽动频率随年龄增长而降低。遗传力估计值在0.25至0.37之间变化,具体取决于表型定义。没有一种表型显示出选型交配、共享环境效应或非加性遗传效应的证据。
轻度和重度抽动表型的遗传力估计为中等。遗传力估计值的重叠置信区间表明各种抽动表型之间存在重叠的遗传易感性。最宽松的表型(仅由抽动特征定义,不包括DSM-IV的标准B、C和D)给出了足够可靠的遗传力估计值。这些发现对未来遗传研究的表型定义有影响。