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.
Study Type
OBSERVATIONAL
Enrollment
300
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.
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.
Shijiazhuang TCM Hospital
Shijiazhuang, Hebei, China
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Data for each participant were collected at a single visit during the study period from March 2018 to September 2021.
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.
Time frame: Analysis was performed after the completion of data collection in September 2021.
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