Advances in glaucoma genetics.
作者： Yoichi Sakurada , Fumihiko Mabuchi
DOI: 10.1016/BS.PBR.2015.04.006
关键词:
摘要: Glaucoma is presumed to be a complex progressive neurodegenerative disorder caused by genetic and environmental factors, it also one of the leading causes irreversible blindness worldwide. divided into two major forms: primary open-angle glaucoma (POAG) angle-closure (PACG). Familial linkage studies for POAG have been performed identified causative disease genes (e.g., MYOC, OPTN, WDR36). Recent genome-wide association revealed large number susceptibility gene variants associated with both CDKN2BAS, CAV1/CAV2, ATOH7) PACG PLEKHA7 COL11A1 PCMTD1-ST18). In POAG, these were expressed in ocular tissues including retinal ganglion cells, ciliary body, trabecular meshwork, optic nerve head. A further functional analysis would provide precise mechanism underlying glaucoma, PACG. It might possible assess personal future risk facilitate therapeutic strategies through studies.
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