Gene Polymorphisms, Skin Barrier, and Inflammation in Acne

July 5, 2025 updated by: Hong Zhang

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Actual)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Hebei
      • Shijiazhuang, Hebei, China, 050000
        • Shijiazhuang TCM Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients with acne vulgaris and healthy volunteers recruited from the dermatology department of Shijiazhuang TCM Hospital.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Acne Patients
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.
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.
Healthy Controls
Healthy volunteers aged 18 years or older without any systemic or skin diseases, recruited during the same period. Participants provided blood samples for genotyping.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genotype Frequencies of MMP-2 and TIMP-2
Time Frame: Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Comparison of the genotype distribution (CC vs. CT/TT for MMP-2; CC vs. GC/GG for TIMP-2) between acne patients and healthy controls to assess association with acne susceptibility. [Time Frame: Data collected at a single study visit] Skin Barrier Function Assessment: Measurement of Transepidermal Water Loss (TEWL) and skin hydration levels in acne patients, compared across different MMP-2 and TIMP-2 genotypes.
Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Skin Barrier Function Assessment
Time Frame: Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Measurement of Transepidermal Water Loss (TEWL) and skin hydration levels in acne patients, compared across different MMP-2 and TIMP-2 genotypes.
Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Serum Interleukin-1β (IL-1β) Level
Time Frame: Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Measurement of serum levels of IL-1β in acne patients, compared across different MMP-2 and TIMP-2 genotypes.
Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Serum Tumor Necrosis Factor-α (TNF-α) Level
Time Frame: Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
Measurement of serum levels of TNF-α in acne patients, compared across different MMP-2 and TIMP-2 genotypes.
Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Correlation Analysis
Time Frame: Analysis was performed after the completion of data collection in September 2021.
Pearson correlation and logistic regression analyses to evaluate the association between the MMP-2/TIMP-2 genotypes, impaired skin barrier function, and elevated inflammatory cytokine levels in acne patients.
Analysis was performed after the completion of data collection in September 2021.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hong Zhang

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2018

Primary Completion (Actual)

September 30, 2021

Study Completion (Actual)

September 30, 2021

Study Registration Dates

First Submitted

July 5, 2025

First Submitted That Met QC Criteria

July 5, 2025

First Posted (Actual)

July 16, 2025

Study Record Updates

Last Update Posted (Actual)

July 16, 2025

Last Update Submitted That Met QC Criteria

July 5, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020SJZTCMLL-KY0045

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Acne Vulgaris

Clinical Trials on MMP-2 Gene Polymorphism (rs243865) Analysis

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Togo

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe