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.