全基因组关联分析研究圆锥角膜遗传病因学的进展

圆锥角膜是一种常见的复杂性状遗传疾病，其致病机制至今不明。全基因组关联分析研究（genome-wide association studies，GWAS）以单核苷酸多态性（single-nucleotide polymorphisms，SNP）为研究对象，是目前研究圆锥角膜遗传基础较好的手段。近五年来，针对圆锥角膜的 GWAS 研究发现3个可疑致病基因为 RAB3GAP1、HGF、LOX，并发现与中央角膜厚度相关的可疑突变位点。（国际眼科纵览，2016，40：161-166）

Genome-wide association studies in keratoconus genetic etiology research

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 thick-ness.(Int Rev Ophthalmol,2016,40:161-166)