Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.

IF 4.6 2区医学 Q1 ALLERGY

Current Allergy and Asthma Reports Pub Date : 2025-09-30 DOI:10.1007/s11882-025-01222-9

Natalia V Rivera, Dominique Israël-Biet

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Abstract

Purpose of review: This review aims to synthesize existing literature on the genetics of sarcoidosis, including the genetic architectures associated with various clinical phenotypes, as well as current treatment options. It will also examine studies on phenotyping and endophenotyping sarcoidosis, along with offering new perspectives into pharmacogenetics and pharmacogenomics. The latter remains largely unexplored, which could potentially lead to new opportunities and further the goals of precision medicine.

Recent findings: Genetics and genomics have provided new insights into the study of sarcoidosis. According to current literature, there are variations in the genetic structure of sarcoidosis when categorized by phenotypic definitions. A common element among these findings is the HLA-DRB1 gene, which is associated with many autoimmune diseases. Genetic analysis is a valuable tool for identifying patient groups based on their genetic profiles, offering an opportunity to classify patients for targeted treatment approaches. Genetics can provide valuable insights that, when combined with other omics disciplines, can aid in diagnosing and managing sarcoidosis and help discover new disease biomarkers. Genetics improve the detection of sarcoidosis endophenotypes, and the combination of pharmacogenetics and pharmacogenomics will support the use of appropriate treatments and help eliminate unnecessary therapies in patients with specific genetic susceptibility.

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基因组时代的结节病：从基因驱动到量身定制的治疗。

综述目的：本综述旨在综合现有的关于结节病遗传学的文献，包括与各种临床表型相关的遗传结构，以及目前的治疗方案。它还将研究表型和内表型结节病的研究，同时为药物遗传学和药物基因组学提供新的视角。后者在很大程度上仍未被探索，这可能会带来新的机会，并进一步实现精准医疗的目标。最新发现：遗传学和基因组学为结节病的研究提供了新的见解。根据目前的文献，结节病的遗传结构在按表型定义分类时存在差异。这些发现的一个共同因素是HLA-DRB1基因，它与许多自身免疫性疾病有关。遗传分析是一种有价值的工具，可以根据患者的遗传特征识别患者群体，为患者分类提供有针对性的治疗方法。遗传学可以提供有价值的见解，当与其他组学学科相结合时，可以帮助诊断和管理结节病，并帮助发现新的疾病生物标志物。遗传学提高了结节病内部表型的检测，药物遗传学和药物基因组学的结合将支持使用适当的治疗方法，并有助于消除对具有特定遗传易感性的患者的不必要治疗。

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来源期刊

Current Allergy and Asthma Reports 医学-过敏

CiteScore

11.20

自引率

1.80%

发文量

审稿时长

6-12 weeks

期刊介绍： The aim of Current Allergy and Asthma Reports is to systematically provide the views of highly selected experts on current advances in the fields of allergy and asthma and highlight the most important papers recently published. All reviews are intended to facilitate the understanding of new advances in science for better diagnosis, treatment, and prevention of allergy and asthma. We accomplish this aim by appointing international experts in major subject areas across the discipline to review select topics emphasizing recent developments and highlighting important new papers and emerging concepts. We also provide commentaries from well-known figures in the field, and an Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. Over a one- to two-year period, readers are updated on all the major advances in allergy and asthma.