Journal article
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness
DP Dimasi, KP Burdon, AW Hewitt, R Savarirayan, PR Healey, P Mitchell, DA Mackey, JE Craig
Molecular Vision | Published : 2010
Abstract
Purpose: The genetic component underlying variation in central corneal thickness (CCT) in the normal population remains largely unknown. As CCT is an identified risk factor for open-angle glaucoma, understanding the genes involved in CCT determination could improve our understanding of the mechanisms involved in this association. Methods: To identify novel CCT genes, we selected eight different candidates based on a range of criteria. These included; aquaporin 1 (AQ1), aquaporin 5 (AQ5), decorin (DCN), fibrillin-1 (FBN1), keratocan (KERA), lumican (LUM), osteoglycin (OGN), and paired box 6 (PAX6). Tagging single nucleotide polymorphisms (SNPs) selected from the HapMap database were genotyped..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
We are grateful to the participants from the BMES, their families and the ophthalmologists who assisted with this work. We are specifically grateful for the technical assistance provided by Amy McMellon, Torin Clack, and Sarah Sibson. This work was supported by grants from the Ophthalmic Research Institute of Australia, Glaucoma Australia and the Australian National Health and Medical Research Council (NHMRC), Grant IDs 974159, 211069, 457349, and 262120. D. P. D. is supported by a NHMRC Dora Lush Postgraduate Biomedical Research Scholarship, K. P. B. is supported by an NHMRC Career Development Award, D. A. M. is a Pfizer Research Fellow and J.E.C. is supported in part by an NHMRC Practitioner Fellowship.