Role of extracellular matrix remodelling gene SNPs in keratoconus. Issue 1 (2nd January 2020)

• Record Type: Journal Article
• Authors: Abdullah, OA; El Gazzar, WB; Salem, TI; Al-Kamil, EA
• Is Part Of: British journal of biomedical science. Volume 77:Issue 1(2020)
• Page Start: 13
• Page End: 18
• Publication Date: 2020-01-02
• Subjects: Keratoconus -- COL4A3 -- MMP-9 -- TIMP-1 -- polymorphism -- ELISA; Medical sciences -- Periodicals; Medical technology -- Periodicals; Biological Science Disciplines; Clinical Laboratory Techniques; Medical Laboratory Science; Anatomie pathologique; Medical sciences; Medical technology; Klinische chemie; Laboratoriumonderzoek; Periodicals; Periodicals; 616.0756; 610.07 M489L
• DOI: 10.1080/09674845.2019.1654346
• Languages: English
• ISSNs: 0967-4845

Abstract

ABSTRACT: 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.