Genome-wide association studies in keratoconus genetic etiology research
For the past 5 years, GWAS in kerotconus has been highly successful, such as three suspected pathogenic genes, RAB3GAP1, HGF, LOX were found and some suspicious mutation sites were related to central corneal thickness.
Abstract
Keratoconus is a common multigenic disease with a complex mode of inheritance. But the pathogenic mechanism of keratoconus is still unknown. Genome-wide association studies (GWAS) use high-throughput genotyping technologies to genotype single-nucleotide polymorphisms (SNP) and relate them to the diseases. It has been the best method used in keratoconus genetic etiology research. For the past 5 years, GWAS in kerotconus has been highly successful, such as three suspected pathogenic genes, RAB3GAP1, HGF, LOX were found and some suspicious mutation sites were related to central corneal thickness. (Int Rev Ophthalmol, 2016, 40: 161-166) Key words: genome-wide association studies;Â keratoconus;Â central corneal thickness;Â gene