GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

M Riaz; L Lorés-Motta; AJ Richardson; Y Lu; G Montgomery; A Omar; RK Koenekoop; J Chen; P Muether; L Altay; T Schick; S Fauser; D Smailhodzic; F Van Asten; EK De Jong; CB Hoyng; KP Burdon; S MacGregor; RH Guymer; AI Den Hollander; PN Baird

Journal article

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

M Riaz, L Lorés-Motta, AJ Richardson, Y Lu, G Montgomery, A Omar, RK Koenekoop, J Chen, P Muether, L Altay, T Schick, S Fauser, D Smailhodzic, F Van Asten, EK De Jong, CB Hoyng, KP Burdon, S MacGregor, RH Guymer, AI Den Hollander Show all

Scientific Reports | NATURE PORTFOLIO | Published : 2016

DOI: 10.1038/srep37924

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Abstract

Pooled DNA based GWAS to determine genetic association of SNPs with visual acuity (VA) outcome in anti-vascular endothelial growth factor (anti-VEGF) treated neovascular age-related macular degeneration (nAMD) patients. We performed pooled DNA based GWAS on 285 anti-VEGF treated nAMD patients using high density Illumina 4.3 M array. Primary outcome was change in VA in Early Treatment Diabetic Retinopathy Study (ETDRS) letters after 6 months of anti-VEGF treatment (patients who lost ≥5 ETDRS letters classified as non-responders and all remaining classified as responders). GWAS analysis identified 44 SNPs of interest: 37 with strong evidence of association (p < 9 × 10 -8), 2 in drug resistance..

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University of Melbourne Researchers

Robyn Guymer Author

Paul Baird Author

Grants

Awarded by European Commission

Funding Acknowledgements

We thank all the clinicians, nurses and research staff who participated in patient recruitment. We acknowledge funding from the National Health and Medical Research Council of Australia (NHMRC) project grant 1008979 and Senior Research Fellowship 1028444 (PNB). Melbourne International research Scholarship and Melbourne International fee remission scholarship from the University of Melbourne Australia (MR). The Centre for Eye Research Australia (CERA) receives Operational Infrastructure Support from the Victorian Government. This project has received funding from the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 317472 (EyeTN). R.K. Koenekoop is supported by the Foundation Fighting Blindness Canada and the Canadian Institutes for Health Research.