Arnau-Soler Aleix, Tremblay Bénédicte L, Sun Yidan, Madore Anne-Marie, Simard Mathieu, Kersten Elin T G, Ghauri Ahla, Marenholz Ingo, Eiwegger Thomas, Simons Elinor, Chan Edmond S, Nadeau Kari, Sampath Vanitha, Mazer Bruce D, Elliott Susan, Hampson Christine, Soller Lianne, Sandford Andrew, Begin Philippe, Hui Jennie, Wilken Bethany F, Gerdts Jennifer, Bourkas Adrienn, Ellis Anne K, Vasileva Denitsa, Clarke Ann, Eslami Aida, Ben-Shoshan Moshe, Martino David, Daley Denise, Koppelman Gerard H, Laprise Catherine, Lee Young-Ae, Asai Yuka
Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.
Allergy. 2025 Jan;80(1):106-131. doi: 10.1111/all.16429. Epub 2024 Dec 19.
In this review, we provide an overview of food allergy genetics and epigenetics aimed at clinicians and researchers. This includes a brief review of the current understanding of genetic and epigenetic mechanisms, inheritance of food allergy, as well as a discussion of advantages and limitations of the different types of studies in genetic research. We specifically focus on the results of genome-wide association studies in food allergy, which have identified 16 genetic variants that reach genome-wide significance, many of which overlap with other allergic diseases, including asthma, atopic dermatitis, and allergic rhinitis. Identified genes for food allergy are mainly involved in epithelial barrier function (e.g., FLG, SERPINB7) and immune function (e.g., HLA, IL4). Epigenome-wide significant findings at 32 loci are also summarized as well as 14 additional loci with significance at a false discovery of < 1 × 10. Integration of epigenetic and genetic data is discussed in the context of disease mechanisms, many of which are shared with other allergic diseases. The potential utility of genetic and epigenetic discoveries is deliberated. In the future, genetic and epigenetic markers may offer ways to predict the presence or absence of clinical IgE-mediated food allergy among sensitized individuals, likelihood of development of natural tolerance, and response to immunotherapy.
在本综述中，我们为临床医生和研究人员提供了一份关于食物过敏遗传学和表观遗传学的概述。这包括对遗传和表观遗传机制、食物过敏遗传方式的当前理解的简要回顾，以及对遗传研究中不同类型研究的优缺点的讨论。我们特别关注食物过敏全基因组关联研究的结果，这些研究已经确定了16个达到全基因组显著性的遗传变异，其中许多与其他过敏性疾病重叠，包括哮喘、特应性皮炎和过敏性鼻炎。已确定的食物过敏相关基因主要涉及上皮屏障功能（如FLG、SERPINB7）和免疫功能（如HLA、IL4）。还总结了32个位点的全表观基因组显著发现以及另外14个错误发现率<1×10时具有显著性的位点。在疾病机制的背景下讨论了表观遗传和遗传数据的整合，其中许多机制与其他过敏性疾病相同。探讨了遗传和表观遗传发现的潜在用途。未来，遗传和表观遗传标记可能为预测致敏个体中临床IgE介导的食物过敏的有无、自然耐受发展的可能性以及免疫治疗反应提供方法。
