Genetic markers for primary open-angle
glaucoma using next-generation sequencing:
abridged secondary publication
LJ Chen1,2,3, JC Yam1,2,3, NC Chan1,2, C Huang4, M Zhang4, B Gong5, Z Yang5, CP Pang1,2,3, CC Tham1,2,3
1 Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
2 Department of Ophthalmology, Prince of Wales Hospital, Hong Kong SAR, China
3 Hong Kong Eye Hospital, Hong Kong SAR, China
4 Joint Shantou International Eye Centre, Shantou, China
5 Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China
- Single-nucleotide polymorphisms in multiple genes/loci—namely AFAP1, CASC20, FNDC3B, FOXC1, LMX1B, GAS7, SPRED2/MIR4778, and TLCD5/ARHGEF12/TMEM136—were associated with primary open-angle glaucoma (POAG), high-tension glaucoma, and/or normal-tension glaucoma in Hong Kong Chinese. However, no rare variants were associated with POAG.
- Shared and distinct genes were identified between POAG and primary angle-closure glaucoma.
- The VAV3 gene was associated with progression of primary angle-closure glaucoma but not POAG.
- Variants SIX6 and PAX6, both POAG genes, were associated with retinal nerve fibre layer thickness and anisometropia development, respectively, in children but not in adults.