Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
School of Medical Sciences, Örebro University, Örebro, Sweden.
Psychol Med. 2021 Jan;51(1):62-69. doi: 10.1017/S0033291719002976. Epub 2019 Oct 29.
Anorexia nervosa and bulimia nervosa are two severe eating disorders associated with high premature mortality, suicidal risk and serious medical complications. Transition between anorexia nervosa and bulimia nervosa over the illness course and familial co-aggregation of the two eating disorders imply aetiological overlap. However, genetic and environmental liabilities to the overlap are poorly understood. Quantitative genetic research using clinical diagnosis is needed.
We acquired a clinical diagnosis of anorexia nervosa (prevalence = 0.90%) and bulimia nervosa (prevalence = 0.48%) in a large population-based sample (N = 782 938) of randomly selected full-sisters and maternal half-sisters born in Sweden between 1970 and 2005. Structural equation modelling was applied to quantify heritability of clinically diagnosed anorexia nervosa and bulimia nervosa and the contributions of genetic and environmental effects on their overlap.
The heritability of clinically diagnosed anorexia nervosa and bulimia nervosa was estimated at 43% [95% confidence interval (CI) (36-50%)] and 41% (31-52%), respectively, in the study population, with the remaining variance explained by variance in unique environmental effects. We found statistically significant genetic [0.66, 95% CI (0.49-0.82)] and unique environmental correlations [0.55 (0.43-0.66)] between the two clinically diagnosed eating disorders; and their overlap was about equally explained by genetic and unique environmental effects [co-heritability 47% (35-58%)].
Our study supports shared mechanisms for anorexia nervosa and bulimia nervosa and extends the literature from self-reported behavioural measures to clinical diagnosis. The findings encourage future molecular genetic research on both eating disorders and emphasize clinical vigilance for symptom fluctuation between them.
神经性厌食症和神经性贪食症是两种严重的饮食失调症,与过早死亡、自杀风险和严重的医疗并发症有关。在疾病过程中,神经性厌食症和神经性贪食症之间的转变以及这两种饮食失调症的家族聚集表明存在病因重叠。然而,对这种重叠的遗传和环境风险因素知之甚少。需要使用临床诊断进行定量遗传学研究。
我们在一个瑞典的大型基于人群的样本(N=782938)中获得了临床诊断的神经性厌食症(患病率=0.90%)和神经性贪食症(患病率=0.48%),该样本由 1970 年至 2005 年期间出生的随机选择的全姐妹和生母半姐妹组成。我们应用结构方程模型来量化临床上诊断的神经性厌食症和神经性贪食症的遗传率,以及遗传和环境效应对其重叠的贡献。
在研究人群中,临床上诊断的神经性厌食症和神经性贪食症的遗传率分别估计为 43%(95%置信区间(CI)(36-50%))和 41%(31-52%),其余方差由独特环境效应的方差解释。我们发现两种临床上诊断的饮食失调症之间存在统计学上显著的遗传(0.66,95%CI(0.49-0.82))和独特环境相关(0.55(0.43-0.66)),并且它们的重叠由遗传和独特环境效应大致相等地解释(共同遗传率为 47%(35-58%))。
我们的研究支持神经性厌食症和神经性贪食症的共同发病机制,并将文献从自我报告的行为测量扩展到临床诊断。这些发现鼓励未来对这两种饮食失调症进行分子遗传学研究,并强调对两者之间症状波动的临床警惕。