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NCT Number: NCT07069075

Gene Polymorphisms, Skin Barrier, and Inflammation in Acne

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.

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Key information

Conditions

Acne Vulgaris Acneiform Eruptions Sebaceous Gland Diseases Skin Diseases Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Shijiazhuang TCM Hospital

Shijiazhuang, Hebei, 050000, China

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

MMP-2 Gene Polymorphism (rs243865) Analysis

Genetic

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.

TIMP-2 Gene Polymorphism (rs8179090) Analysis

Genetic

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.

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

Secondary outcomes

  1. 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.

Sponsors and collaborators

Lead sponsor

Hong Zhang

Other

Registry information

Official study title

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

Important dates

Study start
2018
Primary completion
2021
Study completion
2021
First posted
Jul 16, 2025
Registry last updated
Jul 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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