Exome sequencing to reveal presymptomatic genetic markers for primary open angle glaucoma
LJ Chen, CP Pang, CCY Tham, CKS Leung
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong
1. MEGF11 was identified as a new putative disease-causing gene for primary open angle glaucoma (POAG) in a Chinese population.
2. Mutations in MEGF11 contributed to about 1.1% of Chinese patients with POAG.
3. The association of variant rs4236601 in the CAV1/CAV2 gene locus with POAG in Chinese patients is confirmed.
4. A common variant in this locus, rs3801994, is suggested as a new genetic biomarker for POAG in Chinese patients.
5. Both MEGF11 and CAV1/CAV2 gene loci are excellent genetic biomarkers that can be incorporated into future genetic diagnostic platforms for POAG.