Complex genetics of complex traits: the case of primary open-angle glaucoma
Article first published online: 12 JUL 2006
Clinical & Experimental Ophthalmology
Volume 34, Issue 5, pages 472–484, July 2006
How to Cite
Hewitt, A. W., Craig, J. E. and Mackey, D. A. (2006), Complex genetics of complex traits: the case of primary open-angle glaucoma. Clinical & Experimental Ophthalmology, 34: 472–484. doi: 10.1111/j.1442-9071.2006.01268.x
- Issue published online: 12 JUL 2006
- Article first published online: 12 JUL 2006
- Received 19 January 2006; accepted 18 April 2006.
- cascade screening;
- glaucoma inheritance study in tasmania;
- single nucleotide polymorphism
Glaucoma, which is a complex heterogeneous disease, presents an ideal case for genetic investigation. Primary open-angle glaucoma (POAG) is the commonest subtype and will be the focus of this review. When detected early, POAG is amenable to therapeutic intervention. Unfortunately, current population-based clinical screening lacks efficacy. If individuals with a genetic predisposition for developing POAG can be identified, then efficient and cost-effective population-based screening programs could be designed. Although considerable inroads have been made in understanding the natural history of POAG caused by mutations in the myocilin and optineurin genes, other POAG genes accounting for most cases remain to be identified. This review explores the genetic mechanisms that have been unequivocally linked to the glaucomatous process and then discusses potential avenues for future breakthroughs.