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酒渣鼻遗传多态性研究进展:机制与临床意义

Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications.

作者信息

Wang Zhuangyi, Zhang Zhengzhong

机构信息

Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, People's Republic of China.

出版信息

Clin Cosmet Investig Dermatol. 2025 Jun 5;18:1423-1429. doi: 10.2147/CCID.S524611. eCollection 2025.

DOI:10.2147/CCID.S524611
PMID:40496604
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12148945/
Abstract

Rosacea is a chronic inflammatory skin disease primarily affecting the central region of the face. Typical manifestations include erythema, papules, or pustules on the cheeks, glabella, chin, and nose, with some patients experiencing ocular involvement. The pathogenesis of this disease is influenced by both polygenic inheritance and environmental factors, with abnormalities in innate immunity and neurovascular regulation playing a leading role. Recent genetic studies have identified several key genes, including Human Leukocyte Antigen (HLA), Toll-Like Receptor 2 (TLR2), Interleukin-17 (IL-17), Cathelicidin Antimicrobial Peptide (CAMP), and others, that are closely associated with rosacea onset and progression. This review summarized recent advances in rosacea-related genetic researches, aiming to reveal the genetic basis of the disease and provide support for early intervention and precision management of high-risk populations.

摘要

酒渣鼻是一种主要影响面部中央区域的慢性炎症性皮肤病。典型表现包括脸颊、眉间、下巴和鼻子上出现红斑、丘疹或脓疱,部分患者还会出现眼部受累。该病的发病机制受多基因遗传和环境因素的影响,先天免疫和神经血管调节异常起主导作用。最近的基因研究已经确定了几个关键基因,包括人类白细胞抗原(HLA)、Toll样受体2(TLR2)、白细胞介素-17(IL-17)、杀菌肽抗菌肽(CAMP)等,这些基因与酒渣鼻的发病和进展密切相关。本综述总结了酒渣鼻相关基因研究的最新进展,旨在揭示该病的遗传基础,并为高危人群的早期干预和精准管理提供支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21f7/12148945/5249a3be75b5/CCID-18-1423-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21f7/12148945/5249a3be75b5/CCID-18-1423-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21f7/12148945/5249a3be75b5/CCID-18-1423-g0001.jpg

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1
Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications.酒渣鼻遗传多态性研究进展:机制与临床意义
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2
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本文引用的文献

1
Signaling pathways and targeted therapy for rosacea.酒渣鼻的信号通路和靶向治疗。
Front Immunol. 2024 Sep 16;15:1367994. doi: 10.3389/fimmu.2024.1367994. eCollection 2024.
2
Therapy outcomes of IL-17 and JAK inhibitors in rosacea: A systematic review.IL-17和JAK抑制剂治疗酒渣鼻的疗效:一项系统评价。
J Biomed Res. 2024 Aug 21;39(3):317-318. doi: 10.7555/JBR.38.20240107.
3
Association of interleukin-17F (rs763780) single nucleotide polymorphism with multiple sclerosis and optic neuritis.白细胞介素-17F(rs763780)单核苷酸多态性与多发性硬化症和视神经炎的关联。
Sci Rep. 2024 Jun 13;14(1):13643. doi: 10.1038/s41598-024-62736-2.
4
Rosacea: Pathogenesis and Therapeutic Correlates.酒渣鼻:发病机制与治疗相关性。
J Cutan Med Surg. 2024 Mar-Apr;28(2):178-189. doi: 10.1177/12034754241229365. Epub 2024 Mar 7.
5
Exploring the association between rosacea and acne by integrated bioinformatics analysis.通过综合生物信息学分析探索酒渣鼻和痤疮之间的关联。
Sci Rep. 2024 Feb 6;14(1):3065. doi: 10.1038/s41598-024-53453-x.
6
Decoding the role of mA Regulators in identifying and characterizing molecular subtypes of rosacea.解码mA调控因子在酒渣鼻分子亚型识别与特征描述中的作用。
Heliyon. 2023 Dec 5;9(12):e23310. doi: 10.1016/j.heliyon.2023.e23310. eCollection 2023 Dec.
7
Small molecule modulators of immune pattern recognition receptors.免疫模式识别受体的小分子调节剂
RSC Chem Biol. 2023 Oct 23;4(12):1014-1036. doi: 10.1039/d3cb00096f. eCollection 2023 Nov 29.
8
An Update on Toll-like Receptor 2, Its Function and Dimerization in Pro- and Anti-Inflammatory Processes.TLR2 在促炎和抗炎过程中的功能及其二聚化:最新进展
Int J Mol Sci. 2023 Aug 5;24(15):12464. doi: 10.3390/ijms241512464.
9
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.全基因组测序鉴定出与酒渣鼻神经炎症相关的遗传变异。
Nat Commun. 2023 Jul 5;14(1):3958. doi: 10.1038/s41467-023-39761-2.
10
Human Leukocyte Antigen (HLA) System: Genetics and Association with Bacterial and Viral Infections.人类白细胞抗原 (HLA) 系统:遗传学及与细菌和病毒感染的关联。
J Immunol Res. 2022 May 26;2022:9710376. doi: 10.1155/2022/9710376. eCollection 2022.