Gene Polymorphisms, Skin Barrier, and Inflammation in Acne

Hong Zhang

Status: Completed

Conditions: Acne Vulgaris

Treatments: Genetic: TIMP-2 Gene Polymorphism (rs8179090) Analysis; Genetic: MMP-2 Gene Polymorphism (rs243865) Analysis

Study type: Observational

Funder types: Other

Identifiers

NCT07069075

2020SJZTCMLL-KY0045

Details and patient eligibility

About

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.

Full 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.

Enrollment: 300 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Aged 18 years or older, regardless of gender.
• Diagnosed with acne by a dermatologist (for patient group).
• No systemic or skin diseases (for control group).
• Able to provide informed consent and willing to undergo genotype testing and related skin function tests.

Exclusion criteria

• Acne induced by medications.
• Polycystic ovary syndrome or other forms of hormone-related acne.
• Any local, systemic, or surgical acne/acne scar treatments within the last four weeks.
• Presence of genetic connective tissue diseases.
• Associated with pyoderma or other systemic comorbidities.
• Refusal to sign the informed consent form.

Trial design

300 participants in 2 patient groups

Acne Patients

Description:

Individuals aged 18 years or older who were diagnosed with acne vulgaris by a dermatologist. Participants provided blood samples for genotyping and cytokine analysis, and underwent non-invasive skin function tests.

Treatment:

Genetic: MMP-2 Gene Polymorphism (rs243865) Analysis

Genetic: TIMP-2 Gene Polymorphism (rs8179090) Analysis

Healthy Controls

Description:

Healthy volunteers aged 18 years or older without any systemic or skin diseases, recruited during the same period. Participants provided blood samples for genotyping.

Treatment:

Genetic: MMP-2 Gene Polymorphism (rs243865) Analysis

Genetic: TIMP-2 Gene Polymorphism (rs8179090) Analysis