Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Clin Pharmacol Ther. 2012 Feb;91(2):181-8. doi: 10.1038/clpt.2011.253. Epub 2011 Dec 21.
Anorexia nervosa (AN) is a disease defined by inappropriate weight loss and maintenance of body weight <85% of that expected for weight and height; it is most common in adolescent women aged 15-19 years. Numerous studies have highlighted the familial aggregation of the disease, suggesting a significant genetic component to its etiology. The purpose of this review is to discuss the different fields of genetic research--both in humans and animals--that have contributed to the understanding of this complex disorder. Candidate gene studies focusing on genes involved in the hypothalamic control of appetite and energy regulation have found genetic risk variants that increase risk for AN. A recent genome-wide association study has highlighted novel loci for further investigation in AN. Animal models and epigenetic studies are also considered; the most recent advances in each field and their contributions to the understanding of AN are emphasized.
神经性厌食症(AN)是一种以不适当的体重减轻和体重维持在预期体重和身高的 85%以下为特征的疾病;它最常见于 15-19 岁的青少年女性。许多研究都强调了该疾病的家族聚集性,表明其病因具有重要的遗传成分。本综述的目的是讨论遗传研究的不同领域——包括人类和动物——这些研究有助于理解这种复杂的疾病。针对参与食欲和能量调节的下丘脑控制的基因的候选基因研究发现了增加 AN 风险的遗传风险变异。最近的全基因组关联研究强调了 AN 进一步研究的新基因座。还考虑了动物模型和表观遗传学研究;强调了每个领域的最新进展及其对 AN 的理解的贡献。