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Genetic Variants Including the Cathelicidin Peptide Gene May Determine Who Gets Rosacea

evidence
The takeaway

Genetic polymorphisms in key genes including the cathelicidin antimicrobial peptide (CAMP) gene, TLR2, IL-17, and HLA are closely associated with rosacea susceptibility, supporting a precision medicine approach to this common skin condition.

CAMP gene linked to rosacea

Genetic variants in the cathelicidin antimicrobial peptide gene — which encodes the LL-37 peptide driving rosacea inflammation — are among the key genetic associations identified

What the researchers found

The review identifies several key genes with polymorphisms associated with rosacea:

- CAMP (cathelicidin antimicrobial peptide): Encodes the precursor of LL-37, an antimicrobial peptide whose overexpression drives rosacea-specific inflammation

- TLR2 (Toll-like receptor 2): Part of innate immune recognition; variants may alter the skin's inflammatory response to microbes

- IL-17: A pro-inflammatory cytokine gene associated with chronic inflammatory skin conditions

- HLA (human leukocyte antigen): Immune system genes that determine susceptibility to various inflammatory conditions

The disease is characterized as polygenic with environmental modifiers, involving both innate immunity and neurovascular regulation abnormalities.

Why it matters

Rosacea affects up to 10% of people worldwide and currently has no cure. Understanding the genetic basis — particularly the role of the CAMP/cathelicidin gene that encodes an antimicrobial peptide — could transform treatment from symptom management to targeted intervention. Patients with specific CAMP gene variants might benefit from therapies that specifically modulate cathelicidin peptide production, like ivermectin.

How the study worked

Narrative review summarizing recent genetic association studies and polymorphism research in rosacea. The review covers candidate gene studies and potential genome-wide findings related to rosacea onset and progression.

What this study cannot tell us

As a review, no original genetic data are presented. Many of the cited genetic associations come from relatively small studies that may not replicate across different ethnic populations. The review does not include genome-wide association study (GWAS) results at large scale. The functional consequences of most identified polymorphisms on peptide expression or activity have not been fully characterized.

How to read the evidence

This is a narrative review of genetic association studies. The evidence varies from small candidate gene studies to larger association analyses, but most findings await replication in diverse populations.

When this study was published

Published in 2025, this review captures the latest advances in rosacea genetics, a field that has accelerated with the availability of genomic technologies.

The bigger picture

The cathelicidin/LL-37 antimicrobial peptide pathway has emerged as central to rosacea pathology. Understanding the genetic variants that predispose to cathelicidin overexpression connects dermatology to peptide biology and opens the door to pharmacogenomic approaches — matching treatments to patients based on their genetic profile of peptide-related genes.

Questions still open

  • Can CAMP gene polymorphisms predict which rosacea patients will respond best to cathelicidin-targeting treatments like ivermectin?
  • Are there protective genetic variants that explain why some people never develop rosacea despite environmental triggers?
  • Could genetic testing become part of routine rosacea diagnosis and treatment planning?

Common questions

What is the CAMP gene and why does it matter for rosacea?
The CAMP gene encodes cathelicidin, a protein that is processed into the antimicrobial peptide LL-37. In normal amounts, LL-37 helps protect skin from infection. But people with certain CAMP gene variants may produce too much LL-37, which triggers the excessive inflammation, redness, and bumps characteristic of rosacea. This genetic link explains why some people are more prone to rosacea than others.
Could a genetic test tell me if I'm at risk for rosacea?
Not yet as a clinical tool, but the research is moving in that direction. As more genetic variants associated with rosacea are identified and validated, it may become possible to assess genetic risk. This could help with early intervention for high-risk individuals and with selecting treatments most likely to work based on a person's genetic profile.

Read the original research

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

Clinical, cosmetic and investigational dermatology, 18, 1423-1429

Citation

Wang, Zhuangyi; Zhang, Zhengzhong. (2025). Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications.. Clinical, cosmetic and investigational dermatology, 18, 1423-1429. https://doi.org/10.2147/CCID.S524611