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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