Genetic landscape of atopic dermatitis.

IF 3 4区医学 Q2 ALLERGY

Current Opinion in Allergy and Clinical Immunology Pub Date : 2024-10-01 Epub Date: 2024-06-24 DOI:10.1097/ACI.0000000000001005

Lavinia Paternoster

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Abstract

Purpose of review: This review summarizes recent advances in identifying genetic risk factors for atopic dermatitis and how these genetic associations are being used to explore the causal relationships between atopic dermatitis and potential risk factors and downstream outcomes.

Recent findings: A recent large-scale GWAS meta-analysis has identified 91 genetic loci associated with atopic dermatitis. Rare variant studies have also identified new gain-of-function or loss-of-function variants implicated in atopic dermatitis, particularly for FLG and STAT6/JAK1 . Finally, there has been a surge in utilizing genetic association data to investigate the causal relationships between atopic dermatitis and other traits. Mendelian randomization studies have found that various metabolites and gut microbiota are causal for atopic dermatitis and have causally implicate atopic dermatitis in the development of alopecia areata, diabetes, vascular dementia and some cancers.

Summary: The past year has seen a huge increase in the genes implicated for atopic dermatitis and in the use of genetics to explore causal relationships. The latter requires caution in implementation and interpretation, but is a promising area of research. In the coming years, increasing the ethnic diversity of atopic dermatitis genetic studies would be very welcome and the translation of current genetic findings into new drugs will be an exciting area of development.

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特应性皮炎的基因状况。

综述目的：本综述总结了在确定特应性皮炎遗传风险因素方面的最新进展，以及如何利用这些遗传关联来探讨特应性皮炎与潜在风险因素和下游结果之间的因果关系：最近的一项大规模 GWAS meta 分析确定了 91 个与特应性皮炎相关的基因位点。罕见变异研究还发现了与特应性皮炎有关的新的功能增益或功能缺失变异，尤其是 FLG 和 STAT6/JAK1。最后，利用遗传关联数据研究特应性皮炎与其他性状之间因果关系的热潮也在兴起。孟德尔随机化研究发现，各种代谢物和肠道微生物群与特应性皮炎有因果关系，而且特应性皮炎与斑秃、糖尿病、血管性痴呆和某些癌症的发病也有因果关系。后者需要谨慎实施和解释，但却是一个前景广阔的研究领域。在未来几年里，特应性皮炎基因研究的种族多样性将得到极大提高，而将当前的基因研究成果转化为新药将是一个令人兴奋的发展领域。

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 Allergy and Clinical Immunology 医学-过敏

CiteScore

5.90

自引率

3.60%

发文量

109

审稿时长

6-12 weeks

期刊介绍： This reader-friendly, bimonthly resource provides a powerful, broad-based perspective on the most important advances from throughout the world literature. Featuring renowned guest editors and focusing exclusively on one to three topics, every issue of Current Opinion in Allergy and Clinical Immunology delivers unvarnished, expert assessments of developments from the previous year. Insightful editorials and on-the-mark invited reviews cover key subjects such as upper airway disease; mechanisms of allergy and adult asthma; paediatric asthma and development of atopy; food and drug allergies; and immunotherapy.