Mazzeo S E, Mitchell K S, Bulik C M, Reichborn-Kjennerud T, Kendler K S, Neale M C
Department of Psychology, Virginia Commonwealth University, Richmond, VA 23284-2018, USA.
Psychol Med. 2009 Mar;39(3):463-73. doi: 10.1017/S0033291708003310. Epub 2008 May 19.
Assessment of eating disorders at the symptom level can facilitate the refinement of phenotypes. We examined genetic and environmental contributions to liability to anorexia nervosa (AN) symptoms in a population-based twin sample using a genetic common pathway model.
Participants were from the Norwegian Institute of Public Health Twin Panel (NIPHTP) and included all female monozygotic (MZ; 448 complete pairs and four singletons) and dizygotic (DZ; 263 complete pairs and four singletons) twins who completed the Composite International Diagnostic Interview (CIDI) assessing DSM-IV Axis I and ICD-10 criteria. Responses to items assessing AN symptoms were included in a model fitted using the marginal maximum likelihood (MML) approach.
Heritability of the overall AN diagnosis was moderate [a2=0.22, 95% confidence interval (CI) 0.0-0.50] whereas heritabilities of the specific items varied. Heritability estimates for weight loss items were moderate (a2=0.31-0.34) and items assessing weight concern when at a low weight were smaller (0.18-0.29). Additive genetic factors contributed little to the variance of amenorrhea, which was most strongly influenced by unshared environment (a2=0.16, e2=0.71).
AN symptoms are differentially heritable. Specific criteria such as those related to body weight and weight loss history represent more biologically driven potential endophenotypes or liability indices. The results regarding weight concern differ somewhat from those of previous studies, highlighting the importance of assessing genetic and environmental influences on variance of traits within specific subgroups of interest.
在症状层面评估饮食失调有助于细化表型。我们使用遗传共同途径模型,在一个基于人群的双胞胎样本中研究了遗传和环境因素对神经性厌食症(AN)症状易感性的影响。
参与者来自挪威公共卫生研究所双胞胎面板(NIPHTP),包括所有完成综合国际诊断访谈(CIDI)以评估DSM-IV轴I和ICD-10标准的女性同卵双胞胎(MZ;448对完整双胞胎和4名单胎)和异卵双胞胎(DZ;263对完整双胞胎和4名单胎)。评估AN症状的项目回答被纳入使用边际最大似然(MML)方法拟合的模型中。
总体AN诊断的遗传度为中等水平[a2 = 0.22,95%置信区间(CI)0.0 - 0.50],而特定项目的遗传度各不相同。体重减轻项目的遗传度估计为中等水平(a2 = 0.31 - 0.34),评估低体重时体重担忧的项目遗传度较小(0.18 - 0.29)。加性遗传因素对闭经变异的贡献较小,闭经受非共享环境的影响最大(a2 = 0.16,e2 = 0.71)。
AN症状具有不同的遗传性。与体重和体重减轻史相关的特定标准代表了更多由生物学驱动的潜在内表型或易感性指标。关于体重担忧的结果与先前研究的结果略有不同,突出了评估遗传和环境对特定感兴趣亚组内性状变异影响的重要性。