Journal article

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, Melanie Bahlo

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2017


Awarded by National Eye Institute

Awarded by Wellcome Trust

Awarded by British Heart Foundation

Awarded by Diabetes UK

Awarded by NIH/NEI

Awarded by NHMRC

Funding Acknowledgements

We acknowledge The Genomics Core Facility at the University of Utah School of Medicine for processing the Illumina Human Omni5 Exome BeadChips used in this study. This study was supported by the Lowy Medical Research Institute (La Jolla, California). We thank and acknowledge all of the participants of the MacTel Project (patients and controls) who have given their time, provided biological samples and undergone extensive testing for this study. The Age-Related Eye Disease Study (AREDS) control data set used for the discovery GWAS analyses described in this manuscript were obtained from the database at through database of Genotypes and Phenotypes (dbGaP) accession phs000429.v1.p1. Funding support for AREDS was provided by the National Eye Institute (N01-EY-0-2127). We would like to thank the AREDS participants and the AREDS Research Group for their valuable contribution to this research. We thank E. Agron for providing the AREDS diabetes summary statistics. We thank and acknowledge the staff and participants of the SABRE study who provided metabolomics data. Funding for the control group from the SABRE study was provided by the Wellcome Trust (WT082464), the British Heart Foundation (SP/07/001/23603) and Diabetes UK (13/0004774). Funding support for the control cohort at Columbia University was, in part, provided by NIH/NEI grant EY013435. This research was supported in part by the National Institute for Health Research (NIHR) Moorfields Biomedical Research Centre (London, UK). The views expressed are those of the authors and not necessarily those of the NIHR. This work was supported by Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. M.B. is supported by an NHMRC Senior Research Fellowship (APP1002098) and an NHMRC Program Grant (APP1054618). Finally, we thank S. Freytag, T. Speed and G.K. Smyth for useful discussions with respect to statistical analyses and K. Khan for contributing serum samples for the metabolomics study.