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

(1) Background: Autoimmune thyroid diseases (AITDs) are female predominant and much attention has been focused on G protein-coupled receptor 174 (<i>GPR174)</i> and integral membrane protein 2A (<i>ITM2A)</i> on the X chromosome as Grave’s disease (GD) susceptible locus. (2)...

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Main Authors: Won Kyoung Cho, Hye-Ri Shin, Na Yeong Lee, Seul Ki Kim, Moon Bae Ahn, In-Cheol Baek, Tai-Gyu Kim, Byung-Kyu Suh
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
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Online Access:https://www.mdpi.com/2073-4425/11/8/858
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author Won Kyoung Cho
Hye-Ri Shin
Na Yeong Lee
Seul Ki Kim
Moon Bae Ahn
In-Cheol Baek
Tai-Gyu Kim
Byung-Kyu Suh
author_facet Won Kyoung Cho
Hye-Ri Shin
Na Yeong Lee
Seul Ki Kim
Moon Bae Ahn
In-Cheol Baek
Tai-Gyu Kim
Byung-Kyu Suh
author_sort Won Kyoung Cho
collection DOAJ
description (1) Background: Autoimmune thyroid diseases (AITDs) are female predominant and much attention has been focused on G protein-coupled receptor 174 (<i>GPR174)</i> and integral membrane protein 2A (<i>ITM2A)</i> 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 <i>GPR174</i> and <i>ITM2A</i> 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 (<i>D</i>’ = 1, r<sup>2</sup> = 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 <i>GPR174</i> and <i>ITM2A</i> genes on the X chromosome might be associated with AITD in Korean children.
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spelling doaj.art-f1364c689a9946a3a69c2fd83289beff2023-11-20T08:07:22ZengMDPI AGGenes2073-44252020-07-0111885810.3390/genes11080858<i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid DiseaseWon Kyoung Cho0Hye-Ri Shin1Na Yeong Lee2Seul Ki Kim3Moon Bae Ahn4In-Cheol Baek5Tai-Gyu Kim6Byung-Kyu Suh7Department of Pediatrics, College of Medicine, St. Vincent’s Hospital, The Catholic University of Korea, Seoul 065941, KoreaCatholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul 065941, KoreaDepartment of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul 065941, KoreaDepartment of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul 065941, KoreaDepartment of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul 065941, KoreaCatholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul 065941, KoreaCatholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul 065941, KoreaDepartment of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul 065941, Korea(1) Background: Autoimmune thyroid diseases (AITDs) are female predominant and much attention has been focused on G protein-coupled receptor 174 (<i>GPR174)</i> and integral membrane protein 2A (<i>ITM2A)</i> 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 <i>GPR174</i> and <i>ITM2A</i> 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 (<i>D</i>’ = 1, r<sup>2</sup> = 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 <i>GPR174</i> and <i>ITM2A</i> genes on the X chromosome might be associated with AITD in Korean children.https://www.mdpi.com/2073-4425/11/8/858autoimmune thyroid diseasegender<i>GPR174</i> and <i>ITM2A</i>
spellingShingle Won Kyoung Cho
Hye-Ri Shin
Na Yeong Lee
Seul Ki Kim
Moon Bae Ahn
In-Cheol Baek
Tai-Gyu Kim
Byung-Kyu Suh
<i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
Genes
autoimmune thyroid disease
gender
<i>GPR174</i> and <i>ITM2A</i>
title <i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
title_full <i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
title_fullStr <i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
title_full_unstemmed <i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
title_short <i>GPR174</i> and <i>ITM2A</i> Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
title_sort i gpr174 i and i itm2a i gene polymorphisms rs3827440 and rs5912838 on the x chromosome in korean children with autoimmune thyroid disease
topic autoimmune thyroid disease
gender
<i>GPR174</i> and <i>ITM2A</i>
url https://www.mdpi.com/2073-4425/11/8/858
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