Department of Neuroscience, Functional Pharmacology, Uppsala University, Uppsala, Sweden.
Department of Neuroscience, Functional Pharmacology, Uppsala University, Uppsala, Sweden.
J Genet Genomics. 2022 Jan;49(1):1-12. doi: 10.1016/j.jgg.2021.09.005. Epub 2021 Oct 8.
Anorexia nervosa (AN) is a complex disorder with a strong genetic component. Comorbidities are frequent and there is substantial overlap with other disorders. The lack of understanding of the molecular and neuroanatomical causes has made it difficult to develop effective treatments and it is often difficult to treat in clinical practice. Recent advances in genetics have changed our understanding of polygenic diseases, increasing the possibility of understanding better how molecular pathways are intertwined. This review synthetizes the current state of genetic research providing an overview of genome-wide association studies (GWAS) findings in AN as well as overlap with other disorders, traits, pathways, and imaging results. This paper also discusses the different putative global pathways that are contributing to the disease including the evidence for metabolic and psychiatric origin of the disease.
神经性厌食症(AN)是一种具有强烈遗传成分的复杂疾病。合并症很常见,与其他疾病有很大的重叠。由于对分子和神经解剖原因的理解不足,因此难以开发有效的治疗方法,在临床实践中治疗通常也很困难。遗传学的最新进展改变了我们对多基因疾病的理解,增加了更好地理解分子途径如何相互交织的可能性。这篇综述综合了遗传研究的现状,概述了 AN 的全基因组关联研究(GWAS)发现,以及与其他疾病、特征、途径和成像结果的重叠。本文还讨论了导致该疾病的不同假定的整体途径,包括疾病的代谢和精神起源的证据。