Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.
Khong JJ, Burdon KP, Lu Y et al.
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Abstract
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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.
265 European ancestry cases with thyroid-associated orbitopathy, 147 European ancestry cases without thyroid-associated orbitopathy
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