Advances in glaucoma genetics

Abstract

Glaucoma is presumed to be a complex progressive neurodegenerative disorder caused by genetic and environmental factors, and it is also one of the leading causes of irreversible blindness worldwide. Glaucoma is divided into two major forms: primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). Familial linkage studies for POAG have been performed and identified causative POAG disease genes (e.g., MYOC, OPTN, and WDR36). Recent genome-wide association studies revealed a large number of susceptibility gene variants associated with both POAG (e.g., CDKN2BAS, CAV1/CAV2, and ATOH7) and PACG (e.g., PLEKHA7 and COL11A1 PCMTD1-ST18). In POAG, these genes were expressed in ocular tissues including retinal ganglion cells, ciliary body, trabecular meshwork, and the optic nerve head. A further functional analysis of these genes would provide the precise mechanism underlying glaucoma, including POAG and PACG. It might be possible to assess the personal future risk for glaucoma and facilitate therapeutic strategies through genetic studies.

Keywords: Candidate gene approach; Familial linkage analysis; Genome-wide association study; Primary angle-closure glaucoma; Primary open-angle glaucoma.