Journal article

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

Xikun Han, Ayub Qassim, Jiyuan An, Henry Marshall, Tiger Zhou, Jue-Sheng Ong, Mark M Hassall, Pirro G Hysi, Paul J Foster, Peng T Khaw, David A Mackey, Puya Gharahkhani, Anthony P Khawaja, Alex W Hewitt, Jamie E Craig, Stuart MacGregor

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2019


Optic nerve head morphology is affected by several retinal diseases. We measured the vertical optic disc diameter (DD) of the UK Biobank (UKBB) cohort (N = 67 040) and performed the largest genome-wide association study (GWAS) of DD to date. We identified 81 loci (66 novel) for vertical DD. We then replicated the novel loci in International Glaucoma Genetic Consortium (IGGC, N = 22 504) and European Prospective Investigation into Cancer-Norfolk (N = 6005); in general the concordance in effect sizes was very high (correlation in effect size estimates 0.90): 44 of the 66 novel loci were significant at P < 0.05, with 19 remaining significant after Bonferroni correction. We identified another 26..

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Funding Acknowledgements

This work was conducted using the UK Biobank Resource (application number 25331) and publicly available data from the International Glaucoma Genetics Consortium. S.M., J.E.C. and A.W.H. are supported by NHMRC Fellowships. S.M. was supported by an Australian Research Council Future Fellowship. X.H. is supported by the University of Queensland Research Training Scholarship and QIMR Berghofer PhD Top Up Scholarship. We thank Scott Wood, Xiaping Lin, John Pearson and Scott Gordon from QIMR Berghofer for support.