美国北卡罗莱纳大学教堂山分校Laramie E. Duncan研究小组的最新研究通过全基因组关联分析确定了与神经性厌食症显著相关的8个遗传变异位点，并表明了神经性厌食症起源于代谢和精神疾病。 该研究成果于2019年7月15日发表于国际顶尖学术期刊《自然—遗传学》杂志上。

神经性厌食症以低体重指数为主要特征，是一种复杂而严重的疾病，影响0.94%的女性，0.3%的男性，死亡率高于其他精神疾病的死亡率。

该课题组整理了Anorexia Nervosa Genetics Initiative(ANGI)和精神病基因组学联盟的饮食失调工作组(PGC-ED)的数据，对16992例神经性厌食症患者和55525例对照进行全基因组关联研究，确定了8个重要的基因座。神经性厌食症的遗传基础与代谢(包括血糖)，脂质(脂肪)和人体测量(身体测量)特征具有很强的关联性，并且这不是由于影响体重指数所产生的遗传效应。这些结果进一步支持了应该把神经性厌食症重新认识为一种代谢性精神疾病。阐明代谢成分是今后研究的一个重要方向，关注精神和代谢成分可能是改善结局的关键。

附：英文原文

Title: Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author: Hunna J. Watson, Zeynep Yilmaz, Laura M. Thornton, Christopher Hbel, Jonathan R. I. Coleman, Hlna A. Gaspar, Julien Bryois, Anke Hinney, Virpi M. Lepp, Manuel Mattheisen, Sarah E. Medland, Stephan Ripke, Shuyang Yao, Paola Giusti-Rodrguez, Ken B. Hanscombe, Kirstin L. Purves, Roger A. H. Adan, Lars Alfredsson, Tetsuya Ando, Ole A. Andreassen, Jessica H. Baker, Wade H. Berrettini, Ilka Boehm, Claudette Boni, Vesna Boraska Perica, Katharina Buehren, Roland Burghardt, Matteo Cassina, Sven Cichon, Maurizio Clementi, Roger D. Cone, Philippe Courtet, Scott Crow, James J. Crowley, Unna N. Danner, Oliver S. P. Davis, Martina de Zwaan, George Dedoussis, Daniela Degortes, Janiece E. DeSocio, Danielle M. Dick, Dimitris Dikeos, Christian Dina, Monika Dmitrzak-Weglarz, Elisa Docampo, Laramie E. Duncan

Issue&Volume: Volume 51 Issue 8

Abstract: Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness, affecting 0.94% of women and 0.3% of men, with twin-based heritability estimates of 5060%. Mortality rates are higher than those in other psychiatric disorders, and outcomes are unacceptably poor. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992cases of anorexia nervosa and 55,525controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.

DOI: 10.1038/s41588-019-0439-2

Source: https://www.nature.com/articles/s41588-019-0439-2