From genes to granulomas: the genetic blueprint of sarcoidosis

IF 5.8 2区医学 Q1 IMMUNOLOGY

Current Opinion in Immunology Pub Date : 2025-09-19 DOI:10.1016/j.coi.2025.102663

Martin Petrek , Natalia V Rivera

引用次数: 0

Abstract

Sarcoidosis is a complex, polygenic, and multifactorial disease characterized by granulomas in affected organs, which are the hallmark of the condition. Genetic susceptibility, environmental influences, and lifestyle factors play key roles in its development. Although the exact molecular mechanisms are not yet fully understood, it is known that the immune system plays a role in mediating the disease. Additionally, sarcoidosis encompasses a group of disease entities (endophenotypes) whose clinical features and progression can be described to help improve understanding of their genetic architecture. In this work, we aim to review recent advances in the genetics and immunopathogenesis of sarcoidosis and explore future directions to improve clinical outcomes and achieve the goals of precision medicine.

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从基因到肉芽肿：结节病的基因蓝图。

结节病是一种复杂的、多基因的、多因素的疾病，其特征是受累器官中的肉芽肿，这是该病的标志。遗传易感性、环境影响和生活方式因素在其发展中起关键作用。虽然确切的分子机制尚不完全清楚，但已知免疫系统在介导疾病中起作用。此外，结节病包括一组疾病实体（内表型），其临床特征和进展可以被描述，以帮助提高对其遗传结构的理解。本文就结节病的遗传学和免疫发病机制的最新进展进行综述，探讨未来的研究方向，以提高结节病的临床疗效，实现精准医疗的目标。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Immunology 医学-免疫学

CiteScore

13.30

自引率

1.40%

发文量

审稿时长

67 days

期刊介绍： Current Opinion in Immunology aims to stimulate scientifically grounded, interdisciplinary, multi-scale debate and exchange of ideas. It contains polished, concise and timely reviews and opinions, with particular emphasis on those articles published in the past two years. In addition to describing recent trends, the authors are encouraged to give their subjective opinion of the topics discussed. In Current Opinion in Immunology we help the reader by providing in a systematic manner: 1. The views of experts on current advances in their field in a clear and readable form. 2. Evaluations of the most interesting papers, annotated by experts, from the great wealth of original publications. Current Opinion in Immunology will serve as an invaluable source of information for researchers, lecturers, teachers, professionals, policy makers and students. Current Opinion in Immunology builds on Elsevier''s reputation for excellence in scientific publishing and long-standing commitment to communicating reproducible biomedical research targeted at improving human health. It is a companion to the new Gold Open Access journal Current Research in Immunology and is part of the Current Opinion and Research(CO+RE) suite of journals. All CO+RE journals leverage the Current Opinion legacy-of editorial excellence, high-impact, and global reach-to ensure they are a widely read resource that is integral to scientists'' workflow.