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Genetic study of early‐onset Graves’ disease in the Chinese Han population
Author(s) -
Yuan F.F.,
Ye X.P.,
Liu W.,
Xue L.Q.,
Ma Y.R.,
Zhang L.L.,
Zhang M.M.,
Sun F.,
Wan Y.Y.,
Zhang Q.Y.,
Zhao S.X.,
Song H.D.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13072
Subject(s) - single nucleotide polymorphism , graves' disease , snp , age of onset , genetics , genotyping , pathogenesis , population , disease , genetic predisposition , medicine , biology , genotype , gene , environmental health
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 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.