Journal article

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Puya Gharahkhani, Kathryn P Burdon, Rhys Fogarty, Shiwani Sharma, Alex W Hewitt, Sarah Martin, Matthew H Law, Katie Cremin, Jessica N Cooke Bailey, Stephanie J Loomis, Louis R Pasquale, Jonathan L Haines, Michael A Hauser, Ananth C Viswanathan, Peter McGuffin, Fotis Topouzis, Paul J Foster, Stuart L Graham, Robert J Casson, Mark Chehade Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2014


Awarded by National Health and Medical Research Council (NHMRC) of Australia

Awarded by NHMRC

Awarded by NHMRC of Australia

Awarded by US National Cancer Institute

Awarded by US National Institutes of Health (NIH) Center for Inherited Research (CIDR), NIH/National Eye Institute (NEI)

Awarded by NHMRC, Canberra Australia

Awarded by NHMRC Senior Research Fellowships

Awarded by Wellcome Trust, UK, Wellcome Trust Case Control Consortium 2

Awarded by Medical Research Council (MRC)

Awarded by Research Into Ageing

Awarded by NIHR (UK) Biomedical Research Centre at Moorfields Eye Hospital and University College London Institute of Ophthalmology funds

Awarded by NEI

Awarded by NIH

Awarded by NEI through American Recovery and Reinvestment Act (ARRA)

Awarded by NIH GEI (Gene Environment Initiative)

Awarded by GENEVA Coordinating Center

Awarded by Medical Research Council

Awarded by National Institute for Health Research




Funding Acknowledgements

Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG): support for recruitment of ANZRAG was provided by the Royal Australian and New Zealand College of Ophthalmology (RANZCO) Eye Foundation. Genotyping was funded by the National Health and Medical Research Council (NHMRC) of Australia (#535074 and #1023911). This work was also supported by funding from NHMRC #1031362 awarded to J.E.C., NHMRC #1037838 awarded to A.W.H., NHMRC #1048037 awarded to S.L.G., NHMRC #1009844 awarded to R.J.C. and I.G., NHMRC #1031920 and an Alcon Research Institute grant awarded to D.A.M., an Allergan Unrestricted grant awarded to A.J.W., the BrightFocus Foundation and a Ramaciotti Establishment Grant. The authors acknowledge the support of B. Usher-Ridge in patient recruitment and data collection and P. Danoy and J. Hadler for genotyping.Controls for the ANZRAG discovery cohort were drawn from the Australian Cancer Study, the Study of Digestive Health and a study of inflammatory bowel diseases. The Australian Cancer Study was supported by the Queensland Cancer Fund and the NHMRC of Australia (program number 199600, awarded to D.C.W., A.C. Green, N.K. Hayward, P.G. Parsons, D.M. Purdie and P.M. Webb, and program number 552429, awarded to D.C.W.). The Study of Digestive Health was supported by grant number 5 R01 CA 001833 from the US National Cancer Institute (awarded to D.C.W.).The Barrett's and Esophageal Adenocarcinoma Genetic Susceptibility Study (BEAGESS) sponsored the genotyping of cases with esophageal cancer and Barrett's esophagus, which were used as unscreened controls in the ANZRAG discovery cohort. BEAGESS was funded by grant R01 CA 136725 from the US National Cancer Institute.Genotyping for part of the Australian twin control sample included in the ANZRAG replication cohort was funded by an NHMRC Medical Genomics Grant. Genotyping for the remainder of twin controls was performed by the US National Institutes of Health (NIH) Center for Inherited Research (CIDR) as part of NIH/National Eye Institute (NEI) grant 1RO1EY018246, and we are grateful to C. Day and staff We acknowledge with appreciation all women who participated in the QIMR endometriosis study. We thank Endometriosis Associations for supporting study recruitment. We thank S. Nicolaides and the Queensland Medical Laboratory for pro bono collection and delivery of blood samples and other pathology services for assistance with blood collection. The QIMR twin and endometriosis studies were supported by grants from the NHMRC of Australia (241944, 339462, 389927, 389875, 389891, 389892, 389938, 443036, 442915, 442981, 496610, 496739, 552485 and 552498), the Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC), Cerylid Biosciences (Melbourne) and donations from N. and S. Hawkins. We thank M.J. Wright, M.J. Campbell, A. Caracella, S. Gordon, D.R. Nyholt, A.K. Henders, B. Haddon, D. Smyth, H. Beeby, O. Zheng and B. Chapman for their input into project management, databases, sample processing and genotyping. We are grateful to the many research assistants and interviewers for assistance with the studies contributing to the QIMR twin collection.Blue Mountains Eye Study (BMES): BMES was supported by the NHMRC, Canberra Australia (974159, 211069, 457349, 512423, 475604 and 529912), the Centre for Clinical Research Excellence in Translational Clinical Research in Eye Diseases, NHMRC Senior Research Fellowships (358702 and 632909 to J.J.W.) and the Wellcome Trust, UK, as part of Wellcome Trust Case Control Consortium 2 (A.C.V., P. McGuffin, P. Mitchell, F.T. and P.J.F.) for genotyping costs of the entire BMES population (085475B08Z, 08547508Z, 076113). P.J.F. is also supported by Medical Research Council (MRC) G0401527, Research Into Ageing (Ref 262) and NIHR (UK) Biomedical Research Centre at Moorfields Eye Hospital and University College London Institute of Ophthalmology (BRC2_009) funds.The BMES acknowledges E. Rochtchina from the Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute University of Sydney, J. Attia, R. Scott and E.G. Holliday from the University of Newcastle, J. Xie and P.N. Baird from the Centre for Eye Research Australia, University of Melbourne, M.T. Inouye, Medical Systems Biology, Department of Pathology and Department of Microbiology and Immunology, University of Melbourne and X. Sim, National University of Singapore.NEI Glaucoma Human Genetics Collaboration (NEIGHBOR): genotyping services for the NEIGHBOR study were provided by the CIDR and were supported by the NEI through grant HG005259-01 (J.L.W.). Additionally, CIDR is funded through a federal contract from the NIH to The Johns Hopkins University, contract number HHSN268200782096C. Collecting and processing samples for the NEIGHBOR data set was supported by the NEI through American Recovery and Reinvestment Act (ARRA) grants 3R01EY015872-05S1 (J.L.W.) and 3R01EY019126-02S1 (M.A.H.). Genotype imputation and meta-analysis were supported by EY022305 (J.L.W.). Funding for the collection of cases and controls was provided by the following NIH grants: EY015543 (R.R. Allingham); EY006827 (D. Gaasterland); HL73042, HL073389, EY13315, EY023646 (M.A.H.); CA87969, CA49449, CA55075 (J.H. Kang); EY009149 (P.R. Lichter); HG004608 (C. McCarty); EY008208 (EA. Medeiros); EY015473 (L.R.P.); EY012118 (M. Pericak-Vance); EY015682 (A. Realini); EY011671, EY09580 (J.E. Richards); EY013178 (J.S. Schuman); RR015574, EY015872, EY010886, EY009847, EY014104 (J.L.W.); EY011008, EY144428, EY144448 and EY18660 (K. Zhang). J.L.W. and L.R.P. are also supported by the Harvard Glaucoma Center for Excellence and the Margolis Fund. Y. Liu is supported by the Glaucoma Research Foundation, the American Health Assistance Foundation and the Glaucoma Foundation. J.L.W., L.R.P., D.C. Musch and J.E. Richards are supported by Research to Prevent Blindness. J.N.C.B. is supported by NIH T32 EY007157 (CWRU) and T32 EY21453-2 (VUMC).MEEI case-control sample: genotyping for the Massachusetts Eye and Ear Infirmary (MEEI) case-control sample was performed at the Broad Institute of MIT and Harvard with funding support from the NIH GEI (Gene Environment Initiative) (U01HG04424 and U01HG004728). The GENEVA Coordinating Center (U01HG004446) assisted with genotype cleaning. Imputation was supported by NIH EY022305. Collection of cases and controls was supported by NIH EY015872.Support for molecular analysis of the associated genes was provided by the Ophthalmic Research Institute of Australia. The authors acknowledge the support of M. Philpott in collection of cadaveric human eye tissues and N. Mabarrack for initial optimization of the antibody to AFAP.S. MacGregor is supported by Australian Research Council (ARC) and NHMRC Fellowships. G.W.M., M.A.B., K.P.B., D.C.W. and J.E.C. are supported by Australian NHMRC Fellowships. D.C.W. was funded by the ARC and G.R.-S. was funded by NHMRC during the period of this study. The authors acknowledge C. Abbot (Alcon Research Ltd.) for providing normal and glaucomatous trabecular meshwork cell lines, NTM-5 and GTM-3, respectively, as a kind gift.