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MMP-1 (519 A/G) and TIMP-1 (372 T/C) genes polymorphism in an Egyptian sample of Acne vulgaris patients
Shimaa Moustafa Ali Mohammed1, Hanan Hassan Sabry2, Seham Gouda Ameen3
1Dermatology Resident in Kafr Shokr Hospital, Qalubia, Egypt.
Background:
Different Matrix metalloproteinases (MMPs) family members may be implicated in acne vulgaris development. However, there are no published data about the role of MMP-1 and TIMP-1 gene polymorphisms in acne vulgaris development.
Aims:
To evaluate the association between MMP-1 (519 A/G) and TIMP-1 (372 T/C) gene polymorphisms and the risk of developing acne vulgaris among a sample of Egyptian acne patients.
Patients/Methods:
This case-control study included 100 acne vulgaris patients and 120 apparently healthy control subjects. Acne severity was assessed according to Global Acne Grading System (GAGS). MMP-1 (519 A/G) and TIMP-1 (372 T/C) gene polymorphisms were investigated using RFLP-PCR technique.
Results:
The MMP-1 (519 A/G) AG and GG genotypes and G allele increase the risk of acne vulgaris~2-3 folds. In female patients, TIMP-1 (372 C/T) TT genotype and T allele showed significantly higher frequency in cases compared with the control group (p = 0.004, 0.001 respectively) with a higher risk to develop acne. On the other hand, in male patients, there was insignificant difference between the frequency of alleles in patients and control subjects. TIMP-1 (372C/T) TT genotype has been shown to be significantly detected in the studied female patients associated with the positive family history of the disease, and it increases the risk of back affection, severe acne grade development, and the liability to postacne scar formation.
Conclusion:
MMP-1 (519 A/G) and TIMP-1 (372 T/C) gene polymorphisms may be related to acne vulgaris development.
Insights
Gene variations in MMP-1 and TIMP-1 are linked to acne vulgaris development. Specific genotypes of MMP-1 (519 A/G) and TIMP-1 (372 T/C) increase acne risk, particularly in females.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Matrix metalloproteinases (MMPs) are implicated in acne vulgaris pathogenesis.
- The specific roles of MMP-1 and TIMP-1 gene polymorphisms in acne development remain under-researched.
Purpose of the Study:
- To investigate the association between MMP-1 (519 A/G) and TIMP-1 (372 T/C) gene polymorphisms and the risk of acne vulgaris.
- To analyze these genetic variations in Egyptian acne patients.
Main Methods:
- A case-control study involving 100 acne vulgaris patients and 120 healthy controls.
- Acne severity was assessed using the Global Acne Grading System (GAGS).
- MMP-1 and TIMP-1 gene polymorphisms were identified using the RFLP-PCR technique.
Main Results:
- MMP-1 (519 A/G) AG and GG genotypes, along with the G allele, were found to increase acne vulgaris risk by 2-3 fold.
- In female patients, TIMP-1 (372 T/C) TT genotype and T allele were significantly more frequent, increasing acne risk (p < 0.01).
- TIMP-1 (372 T/C) TT genotype in females correlated with family history, increased back acne, severe grades, and post-acne scarring.
Conclusions:
- MMP-1 (519 A/G) and TIMP-1 (372 T/C) gene polymorphisms are potential risk factors for acne vulgaris development.
- These genetic variations may influence acne severity and presentation, especially in females.
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