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  • Title: Genetic study of early-onset Graves' disease in the Chinese Han population.
    Author: Yuan FF, Ye XP, Liu W, Xue LQ, Ma YR, Zhang LL, Zhang MM, Sun F, Wan YY, Zhang QY, Zhao SX, Song HD, China Consortium for the Genetics of Autoimmune Thyroid Disease.
    Journal: Clin Genet; 2018 Jan; 93(1):103-110. PubMed ID: 28598035.
    Abstract:
    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 (R2  > .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 region-rs4947296-was 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 ≤20 years.
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