Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Curr Allergy Asthma Rep. 2023 May;23(5):255-266. doi: 10.1007/s11882-023-01075-0. Epub 2023 Apr 21.
PURPOSE OF REVIEW: Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic and molecular etiology. The interest of the scientific community in EoE has grown considerably over the past three decades, and the understanding of the genetic and molecular mechanisms involved in this disease has greatly increased. RECENT FINDINGS: In this article, we aim to provide both historic aspects and updates on the recent genetic and molecular advances in the understanding of EoE. Although EoE is a relatively newly described disorder, much progress has been made toward identifying the genetic and molecular factors contributing to the disease pathogenesis by a variety of approaches with next-generation sequencing technologies, including genome-wide association study, whole exome sequencing, and bulk and single-cell RNA sequencing. This review highlights the multifaceted impacts of various findings that have shaped the current molecular and genetic landscape of EoE, providing insights that facilitate further understanding of the disease process.
目的综述:嗜酸性粒细胞性食管炎(EoE)是一种具有复杂潜在遗传和分子病因的过敏性炎症性食管疾病。在过去的三十年中,科学界对 EoE 的兴趣大大增加,人们对这种疾病涉及的遗传和分子机制的理解也有了很大的提高。
最近的发现:在本文中,我们旨在提供有关 EoE 理解方面的遗传和分子最新进展的历史方面和更新。尽管 EoE 是一种相对较新描述的疾病,但通过各种方法,包括全基因组关联研究、外显子组测序、批量和单细胞 RNA 测序,利用下一代测序技术,在确定导致疾病发病机制的遗传和分子因素方面已经取得了很大进展。本综述强调了各种发现的多方面影响,这些发现塑造了 EoE 的当前分子和遗传格局,为进一步了解疾病过程提供了见解。
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