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Association of IRF 8 gene polymorphisms with autoimmune thyroid disease
Author(s) -
Lin JiunnDiann,
Wang YuanHung,
Liu ChiaHung,
Lin YingChin,
Lin JuiAn,
Lin YuhFeng,
Tang KamTsun,
Cheng ChaoWen
Publication year - 2015
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/eci.12463
Subject(s) - thyroiditis , genotype , immunology , medicine , odds ratio , genotyping , graves' disease , anti thyroid autoantibodies , allele , autoimmune disease , genetic predisposition , thyroid , endocrinology , antibody , biology , disease , autoantibody , genetics , gene
Background The occurrence of autoimmune thyroid disease ( AITD ) is known to have a major adverse effect on interferon ( INF )‐α treatment. The genetic variant of the INF regulatory factor 8 ( IRF 8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. In this study, we investigated possible associations of the IRF 8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population. Material and methods In total, 278 patients with Graves' disease ( GD ) and 55 patients with Hashimoto's thyroiditis ( HT ), and 252 healthy controls were enrolled. Polymerase chain reaction‐restriction fragment length polymorphism ( PCR ‐ RFLP ) and direct sequencing were used for genotyping. Results Significantly lower frequencies of the GA genotype and A allele of rs17445836 were found in the HT group than in the control group ( P = 0·028, odds ratio ( OR ) = 4·71 and P = 0·022, OR = 4·40, respectively). Both rs17445836 and rs2280381 were associated with the presence of an antimicrosomal antibody (AmiA), and rs2280381 was also associated with the presence of an antithyroglobulin antibody ( ATA ) in AITD . Moreover, rs17445836 was associated with the level of AmiA in AITD . Conclusions rs17445836 of IRF 8 is a possible genetic variant associated with the development of HT . rs17445836 was associated with the production of thyroid antibody, and the GG genotype of rs17445836 was associated with a higher AmiA titre than the GA genotype.