Complex genetics of complex traits: the case of primary open-angle glaucoma

doi:10.1111/j.1442-9071.2006.01268.x

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Wiley InterScience

Clinical & Experimental Ophthalmology

Volume 34 Issue 5, Pages 472 - 484

Published Online: 12 Jul 2006

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Published on behalf of the Royal Australian and New Zealand College of Ophthalmologists

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Perspective

Complex genetics of complex traits: the case of primary open-angle glaucoma

Alex W Hewitt MBBS(Hons), ^1,2 Jamie E Craig FRANZCO ¹ and David A Mackey FRANZCO ^2,3

¹ Department of Ophthalmology, Flinders University, Adelaide, South Australia, ² Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania, and ³ Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia

Correspondence to Associate Professor David A Mackey, Clinical Genetics Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Vic., Australia 3002. Email: d.mackey@utas.edu.au

KEYWORDS

association • cascade screening • glaucoma inheritance study in tasmania • myocilin • optineurin • single nucleotide polymorphism

Abstract

Currentunderstandingsofthegeneticsofpoag

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.

Received 19 January 2006; accepted 18 April 2006.

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1442-9071.2006.01268.x About DOI