Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population.

ABSTRACT:

Purpose

Keratoconus (KC) is a bilateral and noninflammatory disease, characterized by progressive thinning and anterior protrusion of the cornea and may result in severe visual impairment due to irregular astigmatism. Matrix metalloproteinases (MMP) are the main group of enzymes that degrade extracellular matrix proteins including collagens; Type IV collagen is found in the corneal stroma. MMP enzymatic activity is inhibited by tissue inhibitor of metalloproteinase-1 (TIMP-1). A decrease in TIMP-1 level is associated with the development of KC. In the present study, we investigated the impact of COL4A4 rs2228557 C/T and TIMP-1 rs4898 C/T (X-chromosome) variants on the odds of KC development in a sample of Iranian population.

Methods

This case-control study was

SUBMITTER: Yari D 

PROVIDER: S-EPMC7431712 | biostudies-literature | 2020 Jul-Sep

REPOSITORIES: biostudies-literature