Role of extracellular matrix remodelling gene SNPs in keratoconus
| Autor: | W B El Gazzar, Tamer Salem, E A Al-Kamil, Omnia Abdullah |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Microbiology (medical)
Adult Collagen Type IV Male Keratoconus medicine.medical_specialty genetic structures Genotype Clinical Biochemistry Immunology Single-nucleotide polymorphism MMP9 Matrix metalloproteinase Microbiology Autoantigens Polymorphism Single Nucleotide Pathogenesis 03 medical and health sciences 0302 clinical medicine Gene Frequency Internal medicine medicine Immunology and Allergy Humans Genetic Predisposition to Disease Allele Gene Alleles TIMP1 0303 health sciences Tissue Inhibitor of Metalloproteinase-1 030306 microbiology business.industry Biochemistry (medical) medicine.disease eye diseases Extracellular Matrix Endocrinology Infectious Diseases Matrix Metalloproteinase 9 030220 oncology & carcinogenesis Female sense organs business |
| Zdroj: | British journal of biomedical science. 77(1) |
| ISSN: | 2474-0896 |
| Popis: | Introduction: Single nucleotide polymorphisms (SNPs) in genes for certain structural components may be implicated in the pathogenesis of keratoconus. We hypothesized links between SNPs in genes coding for collagen, matrix metalloproteinase 9 (MMP9) and tissue inhibitor of matrix metalloproteinase (TIMP) and keratoconus. Furthermore, we hypothesized links between MMP-9 and TIMP-1 SNPs and their tear level in keratoconus patients.Materials and methods: We genotyped 200 keratoconus and 100 control subjects by allele-specific PCR, and quantified MMP-9 and TIMP1 in tear samples by ELISA.Results: COL4A3 (rs55703767) and MMP-9 (rs17576) G alleles were over-represented in keratoconus patients (P < 0.01). TIMP-1 (rs6609533) A allele was more prevalent in keratoconus females (P < 0.01) but not in males (P = 0.73). MMP-9 was higher (P < 0.001) and TIMP1 lower (P < 0.001) in tear samples from keratoconus patients compared to controls. Keratoconus cases carrying MMP-9 (rs17576) homozygous (GG) alleles had higher tear MMP-9 compared to those carrying the (A) allele (P < 0.01). Females carrying TIMP-1 (rs6609533) homozygous (AA) alleles in both groups had significantly lower tear TIMP-1 compared to carriers of the AG and GG genotypes.Conclusions: This study supports the hypothesis of a functional role for COL4A3 (rs55703767, G/T), MMP-9 (rs17576, A/G) and TIMP-1 (rs6609533, A/G) SNPs in the pathogenesis of keratoconus. |
| Databáze: | OpenAIRE |
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