Graves' disease (GD) is a complex autoimmune disorder in which genetic and environmental factors are both involved in the pathogenesis. Early-onset patients have a shorter exposure time to environmental factors and are, therefore, good models to help understand the genetic architecture of GD. Based on previous studies of early-onset GD, 11 single nucleotide polymorphisms (SNPs) and their related SNPs (R-2>.6), SNPs located within a +/- 1-Mb region of the FOXP3 gene, and 20 validated GD-risk SNPs were selected and screened for genotyping in 3735 GD and 4893 control patients to investigate whether early-onset GD is a subtype of GD with distinct susceptibility genes. Ultimately, we did not confirm the reported genetic markers of early-onset GD in our Chinese Han population but found that a GD-risk SNP located in the human leukocyte antigen class I regionrs4947296was more strongly correlated with early-onset GD than non-early-onset GD. In addition, heterogeneity analysis of GD patients suggests that it may be more reasonable to define early-onset GD as an onset age 20years.
[1]Shanghai Jiao Tong Univ, Dept Endocrinol, Core Lab Med, Clin Res Ctr,Peoples Hosp 9,Sch Med, Shanghai, Peoples R China.
[2]Fudan Univ, Liver Canc Inst, Zhongshan Hosp, Shanghai, Peoples R China.
[3]Shanghai Jiao Tong Univ, Dept Endocrinol, Peoples Hosp 9, North Branch,Sch Med, Shanghai, Peoples R China.
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