Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.

ABSTRACT: Primary open angle glaucoma (POAG) is characterized by optic disc cupping and irreversible loss of retinal ganglion cells. Few genes have been detected that influence POAG susceptibility and little is known about its genetic architecture. In this study, we employed exome sequencing on three members from a high frequency POAG family to identify the risk factors of POAG in Chinese population. Text-mining method was applied to identify genes associated with glaucoma in literature, and protein-protein interaction networks were constructed. Furthermore, reverse transcription PCR and Western blot were performed to confirm the differential gene expression. Six genes, baculoviral inhibitors of apoptosis protein repeat containing 6 (BIRC6), CD2, luteinizing hormone/choriogonadotropin receptor (LHCG

SUBMITTER: Liu T 

PROVIDER: S-EPMC4000112 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature