Complex genetics of complex traits: the case of primary open-angle glaucoma.
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.
Hewitt
Alex W
AW
Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Craig
Jamie E
JE
Mackey
David A
DA
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005820:Genetic Testing; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D026901:Membrane Transport Proteins; D008967:Molecular Biology; D025202:Molecular Diagnostic Techniques; D020641:Polymorphism, Single Nucleotide; D035582:Transcription Factor TFIIIA / Q000235:genetics; D000099179:Myocilin
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human