Mackey, DA and Hewitt, AW, Genome-wide association study success in ophthalmology, Current Opinion in Ophthalmology, 25, (5) pp. 386-393. ISSN 1040-8738 (2014) [Refereed Article]
Copyright 2014 Lippincott Williams & Wilkins
PURPOSE OF REVIEW: Much progress in our understanding of the genetic profile of many ophthalmic diseases has been made over the last decade. Identification of novel gene associations allows insight into the mechanisms of disease and potentially enables the identification of individuals at increased risk, as well as facilitating the development of new treatments. We highlight key recent discoveries using the genome-wide association study design.
RECENT FINDINGS: Over the last 2 years, we have seen major international collaborations successfully conduct genome-wide association study to identify genetic pathways associated with eye diseases, such as myopia, age-related macular degeneration and glaucoma. Similarly other studies have identified and confirmed genes associated with ocular biometry or disease-specific endophenotypes.
SUMMARY: Our understanding of the genetic architecture of common eye diseases, such as myopia, age-related macular degeneration and glaucoma, is rapidly expanding. With reducing costs of next-generation sequencing, we expect a transition to large-scale interrogation at the whole exome and genome level, which will enable the identification of rare variants which confer a level of sensitivity and specificity to predict risk that will allow us to further understand, predict and intervene in genetic-based eye diseases.
|Item Type:||Refereed Article|
|Keywords:||age-related macular degeneration, gene-environment interaction, keratoconus, myopia, primary open-angle glaucoma|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Mackey, DA (Professor David Mackey)|
|Author:||Hewitt, AW (Professor Alex Hewitt)|
|Web of Science® Times Cited:||13|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||48 View Download Statistics|
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