Glaucoma Genes in East Asian Studies

Abstract

Glaucoma is a leading cause of irreversible blindness worldwide. Genetic studies in glaucoma provide evidences of genes and loci related to the disease development and insights of the pathogenesis in glaucoma. Gene mutations with strong associations to the disease were found in family linkage studies in which the glaucoma patients usually had early-onset and severe disease features. From these studies, several genes, such as MYOC, OPTN, TBK1, and TIE2, have been found to be related to glaucoma. On the other hand, sequence variants linked to common and late-onset forms of glaucoma were mainly discovered from genome-wide association studies (GWAS). Up to date, 15 GWAS have identified common variants for the risk of different types of glaucoma including primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG), and exfoliation glaucoma (XFG). While many GWAS utilized East Asian cohorts as primary cohorts, the effects of the variants contributing to glaucoma susceptibility vary across ethnic groups due to differential genetic background. In this chapter, we focus on the genetics of different glaucoma forms in East Asian populations.