Acne Vulgaris
Conditions
Keywords
Acne, MMP-2, TIMP-2, Gene Polymorphism
Brief 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.
Interventions
GENETICMMP-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.
GENETICTIMP-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.
Sponsors
Hong Zhang
Study design
Observational model
CASE_CROSSOVER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genotype Frequencies of MMP-2 and TIMP-2 | 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. |
| Skin Barrier Function Assessment | 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. |
| Serum Interleukin-1β (IL-1β) Level | 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. |
| Serum Tumor Necrosis Factor-α (TNF-α) Level | 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
| Measure | Time frame | Description |
|---|---|---|
| Correlation Analysis | 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. |
Countries
China
Outcome results
None listed