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. 2020 Jul 27;11(8):858.
doi: 10.3390/genes11080858.

GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease

Won Kyoung Cho  1 , Hye-Ri Shin  2 , Na Yeong Lee  3 , Seul Ki Kim  3 , Moon Bae Ahn  3 , In-Cheol Baek  2 , Tai-Gyu Kim  2   4 , Byung-Kyu Suh  3
Affiliations

GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease

Won Kyoung Cho et al. Genes (Basel). .

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.

Keywords: GPR174 and ITM2A; autoimmune thyroid disease; gender.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
(A), G protein-coupled receptor 174 (GPR174) and integral membrane protein 2A (ITM2A) variants region have been reported from GRCh37.p13 (hg19). rs3810712, 5 prime untranslated region (‘UTR) variant, C>G,T; rs3810711, 5′UTR variant, T>C,G; rs3827440, missense variant, T>A,C,G; rs5912838, 3′UTR variant, A>C,G; (B), block and frequency of linkage disequilibrium (LD) of selected four single nucleotide polymorphisms (SNPs) in GPR174. Boxes are colored deep red if the D’ values are high, which means LD is more strong. Especially, rs3810712, rs3810711 and rs3827440 were found to be in perfect linkage disequilibrium (D’ = 1, r2 = 1).
See this image and copyright information in PMC

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