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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Genotype Frequencies of MMP-2 and TIMP-2 | 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 | 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 | 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 | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation Analysis | 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with acne vulgaris and healthy volunteers recruited from the dermatology department of Shijiazhuang TCM Hospital.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Shijiazhuang TCM Hospital | Shijiazhuang | Hebei | 050000 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41730533 | Derived | Huang S, Fang L, Zhang M, Sun S, Zhi H, Zhu Y, Zhang H. The relationship between MMP-2 and TIMP-2 gene polymorphisms and skin barrier function, inflammatory cytokine levels in acne patients. Expert Rev Clin Immunol. 2026 Feb;22(2):233-241. doi: 10.1080/1744666X.2026.2636646. Epub 2026 Mar 4. |
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| ID | Term |
|---|---|
| D000152 | Acne Vulgaris |
| ID | Term |
|---|---|
| D017486 | Acneiform Eruptions |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012625 | Sebaceous Gland Diseases |
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Venous blood samples were collected from all participants. Genomic DNA was extracted from whole blood for genotyping of MMP-2 rs243865 and TIMP-2 rs8179090. Serum was separated for measuring inflammatory cytokine levels (IL-1β, TNF-α) via ELISA.
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| 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. |
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