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

Won Kyoung Cho; Hye-Ri Shin; Na Yeong Lee; Seul Ki Kim; Moon Bae Ahn; In-Cheol Baek; Tai-Gyu Kim; Byung-Kyu Suh

doi:10.3390/genes11080858

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

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

Authors

Won Kyoung Cho¹, Hye-Ri Shin², Na Yeong Lee³, Seul Ki Kim³, Moon Bae Ahn³, In-Cheol Baek², Tai-Gyu Kim^{2

4}, Byung-Kyu Suh³

Affiliations

¹ Department of Pediatrics, College of Medicine, St. Vincent's Hospital, The Catholic University of Korea, Seoul 065941, Korea.
² Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul 065941, Korea.
³ Department of Pediatrics, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul 065941, Korea.
⁴ Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 065941, Korea.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Case-Control Studies
Chromosomes, Human, X / genetics*
Female
Genetic Predisposition to Disease
Humans
Male
Membrane Proteins / genetics*
Polymorphism, Single Nucleotide*
Receptors, G-Protein-Coupled / genetics*
Republic of Korea
Thyroiditis, Autoimmune / epidemiology
Thyroiditis, Autoimmune / genetics*

Substances

GPR174 protein, human
ITM2A protein, human
Membrane Proteins
Receptors, G-Protein-Coupled