Polymorphisms of IRAK1 Gene on X Chromosome Is Associated with Hashimoto Thyroiditis in Korean Children

Abstract Autoimmune thyroid disease (AITD) is predominant in females and has been focused on the sexual diploid in immune response. The IL-1 receptor-associated kinase 1 (IRAK1) gene on the X chromosome was recently suggested as strong autoimmune disease-susceptible loci, second to the major histoco...

Full description

Saved in:
Bibliographic Details
Published in:Endocrinology (Philadelphia) 2020-08, Vol.161 (8), p.1
Main Authors: Shin, Hye-Ri, Cho, Won Kyoung, Baek, In-Cheol, Lee, Na Yeong, Lee, Yoon Ji, Kim, Seul Ki, Ahn, Moon Bae, Suh, Byung-Kyu, Kim, Tai-Gyu
Format: Article
Language:English
Subjects:
Adolescent
Autoimmune diseases
Care and treatment
Case-Control Studies
Child
Child, Preschool
Children
Chromosomes
Chromosomes, Human, X - genetics
Development and progression
Diploids
Endocrinology
Female
Females
Gene expression
Gene Frequency
Genetic aspects
Genetic Predisposition to Disease
Graves Disease - epidemiology
Graves Disease - genetics
Graves Ophthalmopathy - epidemiology
Graves Ophthalmopathy - genetics
Graves' disease
Haplotypes
Hashimoto Disease - epidemiology
Hashimoto Disease - genetics
Health aspects
Humans
Immune response
Interleukin 1
Interleukin 1 receptors
Interleukin-1 Receptor-Associated Kinases - genetics
IRAK protein
Kinases
Linkage disequilibrium
Major histocompatibility complex
Male
Males
Nucleotides
Pathogenesis
Polymorphism, Single Nucleotide
Republic of Korea - epidemiology
Sex
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Thyroid
Thyroid diseases
Thyroid gland
Thyroiditis
Thyroiditis, Autoimmune
X chromosome
X chromosomes
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Autoimmune thyroid disease (AITD) is predominant in females and has been focused on the sexual diploid in immune response. The IL-1 receptor-associated kinase 1 (IRAK1) gene on the X chromosome was recently suggested as strong autoimmune disease-susceptible loci, second to the major histocompatibility complex region. We investigated the frequency of IRAK1 single-nucleotide polymorphisms (SNPs) in children with AITD. In this study, we observed that SNPs of IRAK1 including rs3027898, rs1059703, and rs1059702 in 115 Korean AITD pediatric patients (Graves’ disease = 74 [females = 52/males = 22]; Hashimoto disease [HD] = 41 [females = 38/males = 3]; thyroid-associated ophthalmopathy [TAO] = 40 (females = 27/males = 13); without TAO = 75 (females = 63/males = 12); total males = 25, total females = 90; mean age = 11.9 years) and 204 healthy Korean individuals (males = 104/females = 100). The data from cases and controls were analyzed from separate sex-stratified or all combined by χ 2 test for categorical variables and Student t test for numerical variables. Our study revealed that SNPs of IRAK1-associated HD and without TAO but Graves’ disease and TAO were not found significant. When cases and controls were analyzed by separate sex, we found that rs3027898 AA, rs1059703 AA, and rs1059702 GG showed disease susceptibility in female AITD, HD, and without TAO. Also, all rs3027898, rs1059703, and rs1059702 were found to be in strong linkage disequilibrium (D′ = 0.96-0.98, r2 = 0.83–0.97). The haplotype of 3 SNPs was higher in AITD than in controls (CGA, r2 = 5.42, P = 0.019). Our results suggest that IRAK1 polymorphisms may contribute to the pathogenesis of HD, AITD, and without thyroid-associated ophthalmopathy for females.
ISSN:0013-7227
1945-7170
DOI:10.1210/endocr/bqaa088