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研究遗传突变及其与特应性皮炎和其他皮肤疾病发展的关系。

Study of Genetic Mutations and Their Association With the Development of Atopic Dermatitis and Other Skin Diseases.

机构信息

Ilona Hartmane, MD, is a Dermatologist at the Department of Dermatology and Venereology, Rīga Stradinš University, Rīga, Latvia.

出版信息

Plast Aesthet Nurs (Phila). 2024;44(3):200-209. doi: 10.1097/PSN.0000000000000564. Epub 2024 Jul 3.

DOI:10.1097/PSN.0000000000000564
PMID:39028474
Abstract

The purpose of this study was to identify the heterogeneity of atopic dermatitis and to identify key genetic factors. This can lead to new approaches and personalized treatment strategies. I conducted a literature review of three scientific publication platforms (i.e., PubMed, Cochrane Library, Scopus) for records published between July 2011 and July 2023 using key words related to the genetics of atopic dermatitis. The high heritability and genetic pleiotropia of atopic dermatitis emphasize the importance of its genetic predisposition and interaction with concomitant diseases. The study also shows the role of various genes associated with immunity and inflammatory reactions, as well as the high heritability of atopic dermatitis, particularly among twins. Genetic mutations, specifically polymorphisms of genes encoding immune factors and inflammatory responses, determine an individual's predisposition to atopic dermatitis. Research findings also point to genetic aspects associated with other skin conditions such as psoriasis and vitiligo, confirming the existence of common genetic mechanisms between these diseases. Specifically, polymorphisms of the filaggrin gene have been found to be key genetic determinants of atopic dermatitis. I analyzed the genetic basis of atopic dermatitis, emphasizing the importance of genetic determinants and their interaction with the immune system and extracellular matrix. This study contributes to the understanding of the mechanisms of atopic dermatitis and opens new perspectives for individualized treatments.

摘要

本研究旨在确定特应性皮炎的异质性,并确定关键的遗传因素。这可能会带来新的方法和个性化的治疗策略。我在三个科学文献平台(PubMed、Cochrane Library 和 Scopus)上进行了文献综述,检索了 2011 年 7 月至 2023 年 7 月间与特应性皮炎遗传学相关的关键词的记录。特应性皮炎的高遗传性和遗传多效性强调了其遗传易感性及其与伴发疾病相互作用的重要性。该研究还表明了各种与免疫和炎症反应相关的基因的作用,以及特应性皮炎的高遗传性,尤其是在双胞胎中。遗传突变,特别是编码免疫因子和炎症反应的基因的多态性,决定了个体患特应性皮炎的易感性。研究结果还指出了与其他皮肤疾病(如银屑病和白癜风)相关的遗传方面,证实了这些疾病之间存在共同的遗传机制。具体而言,角蛋白丝聚合蛋白基因的多态性被认为是特应性皮炎的关键遗传决定因素。我分析了特应性皮炎的遗传基础,强调了遗传决定因素及其与免疫系统和细胞外基质相互作用的重要性。本研究有助于理解特应性皮炎的机制,并为个体化治疗开辟了新的视角。

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