Journal article

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, Sandra E Staffieri, Gail DE Maconachie, Wai-Man Chan, Mary C Whitman, Sarah U Morton, Seyhan Yazar, Stuart MacGregor, James E Elder, Elias I Traboulsi, Irene Gottlob, Alex W Hewitt, David G Hunter, David A Mackey, Elizabeth C Engle

Investigative Ophthalmology and Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2018

Abstract

Purpose: To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest incidence in European ancestry populations, and is believed to be inherited as a complex trait. Methods: White European American discovery cohorts with nonaccommodative (826 cases and 2991 controls) or accommodative (224 cases and 749 controls) esotropia were investigated. White European Australian and United Kingdom cohorts with nonaccommodative (689 cases and 1448 controls) or accommodative (66 cases and 264 controls) esotropia were tested for replication. We performed a genome-wide case-control association study using a mixed linear additi..

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Grants

Awarded by NIH


Awarded by Children's Hospital IDDRC


Awarded by Australian National Health and Medical Research Council


Awarded by Medical Research Council


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Awarded by NATIONAL EYE INSTITUTE


Awarded by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE


Awarded by NATIONAL INSTITUTE ON AGING


Funding Acknowledgements

Supported by NIH Grants R01EY015298 and R01EY027421 (ECE), Boston Children's Hospital IDDRC (NIH 1U54HD090255), the NIH Common Fund's Gabriella Miller Kids First Pediatric Research Program (ECE, SUM), Boston Children's Hospital Ophthalmology Department Foundation Discovery Award (ECE), Al-Habtoor Fellowship-Dubai Harvard Foundation for Medical Research (SS), NIH Grant K08EY027850 (MCW), the Australian National Health and Medical Research Council Project Grant APP1031920 (DAM) and Early Career Fellowship support (SY), the Australian Research Council Future Fellowship Scheme (SM), the Ophthalmic Research Institute of Australia (DAM), Medical Research Council Grant MR/N004566/1, and the Ulverscroft Foundation (IG). Centre for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government. ECE is an investigator of the Howard Hughes Medical Institute.