title: Genetic association between IL-17F gene polymorphisms and the pathogenesis of Graves' Disease in the Han Chinese population.
abstract: BACKGROUND
  Graves' Disease (GD) is a common and complex disorder, with a strong hereditary component. IL-17F is a potent cytokine and a potential contributor to the etiology of various human autoimmune diseases. In the present study, we focused on the relationship between polymorphisms in the IL-17F gene and GD susceptibility through a case-control association study in two independent Chinese cohorts.
  
  
  METHODS
  Our pilot study was performed on a cohort from Shanghai, which included 757 GD patients and 741 healthy controls. Our replication cohort was from Xiamen, consisting of 434 GD patients and 420 healthy controls. We selected four tag SNPs (rs763780, rs2397084, rs9463772 and rs761167) within the IL-17F gene to conduct a genotyping analysis.
  
  
  RESULTS
  In the Shanghai cohort, the rs9463772 polymorphism showed a significant association with GD and Graves' Disease-associated Ophthalmopathy (GO) patients (P(allele)=7×10(-5) and 7.4×10(-3) for GD and GO patients, respectively). The rs763780 polymorphism was found to have only a difference in genotype distribution between GD individuals and healthy controls (P=0.017). In the replication study, we confirmed the association between the rs9463772 polymorphism and GD susceptibility. Haplotype analysis showed that the haplotype of the four SNPs (GCTT) was associated with a significant risk of GD in the Shanghai cohort (P=7.9×10(-3)).
  
  
  CONCLUSIONS
  Our results suggest that polymorphisms in the IL-17F gene increase the risk of Graves' Disease and that IL-17F is therefore a good candidate gene for Graves' Disease prediction in the Han Chinese population.
authors.affiliation: Laboratory Endocrine & Metabolic Diseases of Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai JiaoTong University School of Medicine, 225 South ChongQing Road, Shanghai 200025, PR China.
authors.forename: Ting
authors.initials: T
authors.lastname: Guo
authors.forename: Ya'nan
authors.initials: Y
authors.lastname: Huo
authors.forename: Wei
authors.initials: W
authors.lastname: Zhu
authors.forename: Fanghua
authors.initials: F
authors.lastname: Xu
authors.forename: Changqin
authors.initials: C
authors.lastname: Liu
authors.forename: Nan
authors.initials: N
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Cao
authors.forename: Bin
authors.initials: B
authors.lastname: Cui
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D020381:Interleukin-17 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D012307:Risk Factors
chemical_list: C440021:IL17F protein, human; D020381:Interleukin-17