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Yuji Hiromatsu, Tomoka Fukutani, Michiko Ichimura, Tokunori Mukai, Hiroo Kaku, Hitomi Nakayama, Ikuyo Miyake, Shingo Shoji, Yoshiro Koda, Tomasz Bednarczuk, Interleukin-13 Gene Polymorphisms Confer the Susceptibility of Japanese Populations to Graves’ Disease, The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 1, 1 January 2005, Pages 296–301, https://doi.org/10.1210/jc.2004-0931
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Abstract
Graves’ disease (GD) is an autoimmune disorder with genetic predisposition. IL-13 is an important mediator of antiinflammatory immune responses and is expressed in the thyroid and orbit. The aim of the present study was to investigate whether IL-13 gene polymorphisms are associated with the development of GD. IL-13 gene polymorphisms were studied in Japanese GD patients (n = 310) and healthy control subjects without antithyroid autoantibodies or a family history of autoimmune disorders (n = 244). A C/T polymorphism at position −1112 of the promoter region was measured using the direct sequencing method, and an Arg130Gln (G2044A) polymorphism in exon 4 was examined using the PCR-restriction fragment length polymorphism method. There was a significant decrease in −1112T allele frequency in GD patients compared with controls (16% vs. 23%; P = 0.0019). The frequency of the 2044A allele on exon 4 also appeared lower in GD patients compared with controls. Haplotype analysis showed a significant decrease in the −1112T/2044A haplotype in GD patients. There was no association between IL-13 gene polymorphisms and ophthalmopathy, severity, or serum IgE levels. In conclusion, IL-13 gene polymorphisms are associated with GD susceptibility in Japan.