Journal article

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

Stuart Macgregor, Alex W Hewitt, Pirro G Hysi, Jonathan B Ruddle, Sarah E Medland, Anjali K Henders, Scott D Gordon, Toby Andrew, Brian McEvoy, Paul G Sanfilippo, Francis Carbonaro, Vikas Tah, Yi Ju Li, Sonya L Bennett, Jamie E Craig, Grant W Montgomery, Khanh-Nhat Tran-Viet, Nadean L Brown, Timothy D Spector, Nicholas G Martin Show all

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2010


Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by NEI

Awarded by NIH/National Eye Institute (NEI)

Awarded by Netherlands Scientific Organization (NWO )

Awarded by European Community

Awarded by Biotechnology and Biological Sciences Research Council (BBSRC)

Funding Acknowledgements

We thank our laboratory staff led by Gabriela Surdulescu, the staff from the genotyping facilities at the Wellcome Trust Sanger Institute for sample preparation, quality control and genotyping led by Leena Peltonen and Panos Deloukas; Le Centre National de Genotypage, France, led by Mark Lathrop, for genotyping; Duke University, NC, USA, led by David Goldstein, for genotyping; and the Finnish Institute of Molecular Medicine, Finnish Genome Center, University of Helsinki, led by Aarno Palotie. Genotyping was also performed by the CIDR as part of an NEI/NIH project grant, and we are grateful to Dr Camilla Day and staff there.The Australian Twin Registry is supported by an Australian National Health and Medical Research Council (NHMRC) Enabling Grant (2004-2009). We also thank the following organizations for their financial support: Clifford Craig Medical Research Trust, Ophthalmic Research Institute of Australia (ORIA), Glaucoma Australia, American Health Assistance Foundation (AHAF), Peggy and Leslie Cranbourne Foundation, Foundation for Children, NHMRC project grant (2005-2007), Jack Brockhoff Foundation, NEI Project Grant (2007-2010). Genotyping for part of the Australian sample was funded by an NHMRC Medical Genomics Grant. Genotyping for the remainder was performed by the National Institutes of Health (NIH) Center for Inherited Research (CIDR) as part of an NIH/National Eye Institute (NEI) grant 1RO1EY018246, and we are grateful to Dr Camilla Day and staff. Australian sample imputation analyses were carried out on the GeneticCluster Computer, which is financially supported by the Netherlands Scientific Organization (NWO 480-05-003). We thank Dale R. Nyholt, Margaret J. Wright, Megan J. Campbell and Anthony Caracella for their assistance in processing the Australian genotyping data. D. A. M. is a recipient of the Pfizer Australia Senior Research Fellowship. S. M. is supported by an Australian NHMRC Career Development Award. We are also grateful to Jane MacKinnon, Shayne Brown, Lisa Kearns, Sandra Staffieri, Olivia Bigault, ColleenWilkinson, Julie Barbour and James Elder, who assisted with clinical examinations. The authors of King's College London acknowledge funding from the Wellcome Trust, the EU MyEuropia Marie Curie Research Training Network, Guide Dogs for the Blind Association, the European Community's Seventh Framework Programme (FP7/2007-2013)/grant agreement HEALTH-F2-2008-201865-GEFOS and (FP7/20072013), ENGAGE project grant agreement HEALTH-F42007- 201413 and the FP-5 GenomEUtwin Project (QLG2-CT-2002-01254). The study also receives support from the Department of Health via the National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre award to Guy's & St Thomas' NHS Foundation Trust in partnership with King's College London. T. D. S. is an NIHR senior investigator and C. J. H. an NIHR senior research fellow. The project also received support from a Biotechnology and Biological Sciences Research Council (BBSRC) project grant (G20234). The authors acknowledge the funding and support of the NIH/ NEI grant 1RO1EY018246, an NIH/Center for Inherited Diseases Research genotyping project grant (PI: T. L. Y.) and NIH/ NEI grant 1R01EY013612 (PI: N. L. B.). T. L. Y. acknowledges funding from Research to Prevent Blindness, Inc. We would also like to thank all the research team who phenotyped the subjects, including S. H. Melissa Liew, MD, and Christine Smoliner. We are grateful to the volunteer twins who made available their time to research. Funding to pay the Open Access publication charges for this article was provided by The Wellcome Trust.