Journal article
Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy
Jwu Jin Khong, Kathryn P Burdon, Yi Lu, Lefta Leonardos, Kate J Laurie, John P Walsh, Adam D Gajdatsy, Peter R Ebeling, Alan A McNab, Thomas G Hardy, Richard J Stawell, Garry J Davis, Dinesh Selva, Angelo Tsirbas, Grant W Montgomery, Stuart Macgregor, Jamie E Craig
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2016
Abstract
PURPOSE: Thyroid-associated orbitopathy (TO) is an autoimmune-mediated orbital inflammation that can lead to disfigurement and blindness. Multiple genetic loci have been associated with Graves' disease, but the genetic basis for TO is largely unknown. This study aimed to identify loci associated with TO in individuals with Graves' disease, using a genome-wide association scan (GWAS) for the first time to our knowledge in TO. METHODS: Genome-wide association scan was performed on pooled DNA from an Australian Caucasian discovery cohort of 265 participants with Graves' disease and TO (cases) and 147 patients with Graves' disease without TO (controls). Top-ranked single nucleotide polymorphisms..
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Funding Acknowledgements
Supported by Ophthalmic Research Institute of Australia, National Health and Medical Research Council of Australia, Australian Research Council Fellowship (SM), National Health, and Medical Research Council of Australia Fellowship (GM), Australian Postgraduate Award (JJK).