Journal article

Association of Genetic Variation With Keratoconus

Bennet J McComish, Srujana Sahebjada, Yelena Bykhovskaya, Colin E Willoughby, Andrea J Richardson, Abi Tenen, Jac C Charlesworth, Stuart MacGregor, Paul Mitchell, Sionne EM Lucas, Richard A Mills, David A Mackey, Xiaohui Li, Jie Jin Wang, Richard A Jensen, Jerome I Rotter, Kent D Taylor, Alex W Hewitt, Yaron S Rabinowitz, Paul N Baird Show all

JAMA Ophthalmology | AMER MEDICAL ASSOC | Published : 2020

Abstract

Importance: Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affecting refraction and vision. It is a major indication for corneal transplant. To discover new genetic loci associated with keratoconus and better understand the causative mechanism of this disease, we performed a genome-wide association study on patients with keratoconus. Objective: To identify genetic susceptibility regions for keratoconus in the human genome. Design, Setting, and Participants: This study was conducted with data from eye clinics in Australia, the United States, and Northern Ireland. The discovery cohort of individuals with keratoconus and control par..

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Grants

Awarded by Australian National Health and Medical Research Council


Awarded by National Health and Medical Research Council Centre for Research Excellence grant


Awarded by Center for Inherited Diseases Research Program


Awarded by National Eye Institute


Awarded by National Center for Advancing Translational Sciences (Clinical Translational Science Institute grant)


Awarded by National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center


Awarded by National Heart, Lung, and Blood Institute


Awarded by National Institute on Aging



Funding Acknowledgements

The Genotype-Tissue Expression Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by National Cancer Institute, National Human Genome Research Institute, National Heart, Lung, and Blood Institute, National Institute on Drug Abuse, National Institute of Mental Health, and National Institute of Neurological Disorders and Stroke. The data used for the analyses described in the manuscript were obtained from the Genotype-Tissue Expression Portal on May 27, 2019. This study was supported by the Australian National Health and Medical Research Council (project grant GNT1104700) and Senior Research Fellowships (grant 1138585 [Dr Baird] and 1059954 [Dr Burdon]). The Centre for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government. The discovery case cohort was funded by a National Health and Medical Research Council Centre for Research Excellence grant (1023911). Control genotype data for the discovery cohort were provided by the International AMD Genetics Consortium genotyped under the Center for Inherited Diseases Research Program (contract number HHSN268201200008I). The US replication cohort is supported in part by the National Eye Institute (grant R01 EY009052). The provision of genotyping data was supported in part by the National Center for Advancing Translational Sciences (Clinical Translational Science Institute grant UL1TR001881) and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (grant DK063491) to the Southern California Diabetes Endocrinology Research Center. The Cardiovascular Health Study (control cohort) was supported by the National Heart, Lung, and Blood Institute (grants HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086, U01HL080295, and U01HL130114), with additional contribution from the National Institute of Neurological Disorders and Stroke. Additional support was provided by the National Institute on Aging (grant R01AG023629).