Nestadt G, Lan T, Samuels J, Riddle M, Bienvenu O J, Liang K Y, Hoehn-Saric R, Cullen B, Grados M, Beaty T H, Shugart Y Y
Department of Psychiatry and Behavioral Sciences, School of Medicine, The Johns Hopkins University, Baltimore, MD 21287, USA.
Am J Hum Genet. 2000 Dec;67(6):1611-6. doi: 10.1086/316898. Epub 2000 Oct 31.
Evidence from twin and family studies supports a genetic etiology for obsessive-compulsive disorder (OCD). The purpose of this study was to test whether a major gene is implicated in a proportion of families with OCD. Complex segregation analyses of 153 families (80 case and 73 control), ascertained in the Johns Hopkins OCD Family Study, provided strong evidence for a major gene. A Mendelian-dominant model, with significant sex effects and with residual familial effects, best explained the observed data. Stratification of the sample by the sex of probands provided further evidence of heterogeneity with respect to familial aggregation. Segregation analyses of 86 families with a female proband and of the 67 families with a male proband suggested that a Mendelian-dominant model with familial residual effects was the most parsimonious model explaining the inheritance of OCD in both subgroups.
双胞胎和家族研究的证据支持强迫症（OCD）的遗传病因。本研究的目的是检验是否有一个主要基因与一部分患有强迫症的家族有关。在约翰霍普金斯强迫症家族研究中确定的153个家族（80例患者和73例对照）的复杂分离分析，为一个主要基因提供了有力证据。一个具有显著性别效应和残余家族效应的孟德尔显性模型，能最好地解释观察到的数据。按先证者性别对样本进行分层，进一步证明了家族聚集方面的异质性。对86个女性先证者家族和67个男性先证者家族的分离分析表明，具有家族残余效应的孟德尔显性模型是解释两个亚组中强迫症遗传的最简约模型。
