title: Association of IRF8 gene polymorphisms with autoimmune thyroid disease.
abstract: 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 (IRF8), 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 IRF8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population.
  
  
  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 IRF8 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.
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Division of Endocrinology, Department of Internal Medicine, Shuang-Ho Hospital, School of Medicine, College of Medicine, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Jiunn-Diann
authors.initials: JD
authors.lastname: Lin
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Department of Urology, Shuang-Ho Hospital, School of Medicine, College of Medicine, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Yuan-Hung
authors.initials: YH
authors.lastname: Wang
authors.affiliation: Department of Family Medicine, Shuang-Ho Hospital, School of Medicine, College of Medicine, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Chia-Hung
authors.initials: CH
authors.lastname: Liu
authors.affiliation: Department of Family Medicine, Shuang-Ho Hospital, School of Medicine, College of Medicine, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Ying-Chin
authors.initials: YC
authors.lastname: Lin
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Jui-An
authors.initials: JA
authors.lastname: Lin
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Division of Nephrology, Department of Internal Medicine, Shuang-Ho Hospital, School of Medicine, College of Medicine, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Yuh-Feng
authors.initials: YF
authors.lastname: Lin
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Veterans General Hospital, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Kam-Tsun
authors.initials: KT
authors.lastname: Tang
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Chao-Wen
authors.initials: CW
authors.lastname: Cheng
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001323:Autoantibodies / Q000276:immunology / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D008861:Microsomes / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D013624:Taiwan; D000099185:Interferon Regulatory Factor-8
chemical_list: D001323:Autoantibodies; D050835:Interferon Regulatory Factors; D000099185:Interferon Regulatory Factor-8; C006606:anti-thyroglobulin
keywords: Autoimmune thyroid disease; Graves' disease; Hashimoto's thyroiditis; interferon regulatory factor 8