Abstract
(1) Background: Autoimmune thyroid diseases (AITDs) are female predominant and much attention has been focused on G protein-coupled receptor 174 (GPR174) and integral membrane protein 2A (ITM2A) on the X chromosome as Grave’s disease (GD) susceptible locus. (2) Methods: We genotyped four single nucleotide polymorphisms (SNPs), rs3810712, rs3810711, rs3827440, and rs5912838, of GPR174 and ITM2A in 115 Korean children with AITD (M = 25 and F = 90; GD = 74 (14.7 ± 3.6 years), HD = 41 (13.4 ± 3.2 years); GD-thyroid-associated ophthalmopathy (TAO) = 40, GD-non-TAO=34) and 204 healthy Korean individuals (M = 104 and F = 100). The data were analyzed by sex-stratified or combined. (3) Results: Three SNPs, rs3810712, rs3810711 and rs3827440, were found to be in perfect linkage disequilibrium (D’ = 1, r2 = 1). In AITD, HD, GD, GD-TAO, and GD-non-TAO patients, rs3827440 TT/T and rs5912838 AA/A were susceptible and rs3827440 CC/C and rs5912838 CC/C were protective genotypes. When analyzed by sex, rs3827440 TT and rs5912838 AA were susceptible and rs3827440 CC and rs5912838 CC were protective genotypes in female AITD, GD, GD-TAO, and GD-non-TAO subjects. In male AITD patients, rs3827440 T and rs5912838 A were susceptible and rs3827440 C and rs5912838 C were protective genotypes. (4) Conclusions: Polymorphisms in GPR174 and ITM2A genes on the X chromosome might be associated with AITD in Korean children.
Highlights
Autoimmune thyroid disease (AITD) may occur when genetically susceptible individuals are exposed to environmental triggers such as infection, iodine, or stress [1]
Skewing might beis important contributors reported that polymorphisms of IRAK1 gene on X chromosome associated with Hashimoto’s thyroiditis (HD) in Korean to the increased risk for AITD in females [14,15,16]
In this study,rs3810711, we investigated the rolechildren of G protein-coupled receptor 174 (GPR174) and polymorphisms with AITD
Summary
Autoimmune thyroid disease (AITD) may occur when genetically susceptible individuals are exposed to environmental triggers such as infection, iodine, or stress [1]. The statistical significance in our previous and associated proteins, response-related study was immune much higher than observed in other studiesproteins conducted on and Korean transcriptional adults [8], which might and translational that located early-onset AITD is more by genetic may factors than late-onset. Skewing might beis important contributors reported that polymorphisms of IRAK1 gene on X chromosome associated with HD in Korean to the increased risk for AITD in females [14,15,16]. To the best of our knowledge, there have been no reports on possible protein-coupled receptor 174 (GPR174) and integral membrane protein 2A (ITM2A) on the X chromosome suggested to be GD-susceptible lociwith after theAITD major histocompatibility associations of GPR174 andwere.
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