NCT07069075

Gene Polymorphisms, Skin Barrier, and Inflammation in Acne

The Relationship Between MMP-2 and TIMP-2 Gene Polymorphisms and Skin Barrier Function, Inflammatory Cytokine Levels in Acne Patients

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 300 (actual)
• Sponsor: Hong Zhang · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

This study investigated the relationship between Matrix Metalloproteinase-2 (MMP-2) and Tissue Inhibitor of Metalloproteinase-2 (TIMP-2) gene polymorphisms and acne pathogenesis. The study aimed to determine whether specific genotypes (MMP-2-CC and TIMP-2-CC) are associated with impaired skin barrier function (measured by transepidermal water loss and skin hydration) and elevated levels of inflammatory cytokines (IL-1β, TNF-α) in acne patients compared to healthy controls.

Detailed description

Acne vulgaris is a common dermatological condition with a complex pathogenesis involving skin barrier dysfunction and inflammation. Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) are crucial in extracellular matrix remodeling and have been implicated in acne. This case-control study was designed to explore the association of specific polymorphisms in the MMP-2 (rs243865) and TIMP-2 (rs8179090) genes with clinical and biological markers in acne. A total of 200 acne patients and 100 healthy controls were enrolled. Genomic DNA was extracted from peripheral blood samples, and genotyping was performed using PCR-RFLP. Skin barrier function was assessed by measuring Transepidermal Water Loss (TEWL) and skin hydration. Serum levels of the inflammatory cytokines Interleukin-1β (IL-1β) and Tumor Necrosis Factor-α (TNF-α) were quantified using ELISA. The study evaluates whether the CC genotypes of MMP-2 and TIMP-2 are risk factors for acne susceptibility and are correlated with more severe disease phenotypes, characterized by poorer skin barrier integrity and a heightened inflammatory state.

Conditions

• Acne Vulgaris

Interventions

Type	Name	Description
GENETIC	MMP-2 Gene Polymorphism (rs243865) Analysis	Participants were genotyped for the MMP-2 rs243865 polymorphism. Genomic DNA was extracted from peripheral blood, and the specific genotype (CC, CT, or TT) was determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. This allowed for the stratification of participants based on their genetic variation at this locus for subsequent association analysis.
GENETIC	TIMP-2 Gene Polymorphism (rs8179090) Analysis	Participants were genotyped for the TIMP-2 rs8179090 polymorphism. Genomic DNA was extracted from peripheral blood, and the specific genotype (CC, GC, or GG) was determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. This allowed for the stratification of participants based on their genetic variation at this locus for subsequent association analysis.

Timeline

• Start date: 2018-08-01
• Primary completion: 2021-09-30
• Completion: 2021-09-30
• First posted: 2025-07-16
• Last updated: 2025-07-16

Locations

1 site across 1 country: China