Association of Polymorphisms in<i>Toll-Like Receptors 4</i>and<i>9</i>with Autoimmune Thyroid Disease in Korean Pediatric Patients

Cho, Won Kyung; Jang, Jung-Pil; Choi, Eun‐Jeong; Ahn, Myeong Im; Kim, Shin Hee; Baek, In‐Cheol; Jung, Min Ho; Kim, Tai‐Gyu; Suh, Byung‐Kyu

doi:10.1155/2017/2304218

Cited by 19 publications

(15 citation statements)

References 39 publications

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“…Associated with psoriatic arthritis risk 69 , hip and knee osteoarthritis 70,71 , SLE 72 and IBD 73 ; associated with the risk of autoimmune thyroid disease 74 ; response to anti-TNF therapy in patients with RA 64 34 and DNA samples were obtained from peripheral blood collected at the Statens Serum Institut (Copenhagen, Denmark), which routinely perform screening for tuberculosis before treatment with biological treatments. Healthy blood donors were recruited in Viborg and Sønderborg (Denmark).…”

Section: Ra Patient Populationsmentioning

confidence: 99%

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Sánchez-Maldonado

Martínez-Bueno

Canhão

et al. 2020

Sci Rep

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This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (695 RA patients and 978 healthy controls) and DREAM (882 RA patients) registries. The meta-analysis of our data with those from the DANBIO registry confirmed that anti-citrullinated protein

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Section: Ra Patient Populationsmentioning

confidence: 99%

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Sánchez-Maldonado

Martínez-Bueno

Canhão

et al. 2020

Sci Rep

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“…Most recently, based on the results of an analysis performed in a large cohort of GD patients, Yuan et al reported significant genetic heterogeneity between subjects with age of GD onset ≤20 and >20 years, suggesting it is reasonable to reduce the cut‐off value for the definition of early‐onset GD. However, data on the genetic risk factors in POGD are limited . In our multicentre study, we collected a large group of POGD patients and investigated similarities and differences in the genetic background between POGD and AOGD for the established and suggested GD/AITD risk loci .…”

Section: Introductionmentioning

confidence: 99%

“…However, data on the genetic risk factors in POGD are limited. [18][19][20][21][22][23][24][25][26][27] In our multicentre study, we collected a large group of POGD patients and investigated similarities and differences in the genetic background between POGD and AOGD for the established and suggested GD/ AITD risk loci. Subsequently, we looked for genetic variants associated with age of GD onset in the entire cohort of patients.…”

Section: Introductionmentioning

confidence: 99%

Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Kuś

Radziszewski

Glina

et al. 2018

Clinical Endocrinology

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Background Graves' disease (GD) is an autoimmune thyroid disease (AITD) with a peak incidence between 30 and 50 years of age. Although children and adolescents may also develop the disease, the genetic background of paediatric‐onset GD (POGD) remains largely unknown. Here, we looked for similarities and differences in the genetic risk factors for POGD and adult‐onset GD (AOGD) as well as for variants associated with age of GD onset. Materials and methods A total of 1267 GD patients and 1054 healthy controls were included in the study. Allele frequencies of 40 established and suggested GD/AITD genetic risk variants (39 SNPs and HLA‐DRB1*03) were compared between POGD (N = 179), AOGD (N = 1088) and healthy controls. Subsequently, multiple linear regression was used to explore the relationship between age of GD onset and genotype for each locus. Results We identified six POGD risk loci, all of them were also strongly associated with AOGD. Although for some of the analysed variants, including HCP5 (rs3094228), PRICKLE1 (rs4768412) and SCGB3A2 (rs1368408), allele frequencies differed nominally between POGD and AOGD patients, these differences were not significant after applying multiple testing correction (Pcor = 0.05/40 = 1.25 × 10−3). Regression analysis showed that patients with higher number of HCP5 risk alleles tend to have a significantly earlier onset of GD (P = 6.9 × 10−5). Conclusions The results of our study revealed that POGD and AOGD share multiple common genetic risk variants. Moreover, we demonstrated for the first time that HCP5 polymorphism is associated with an earlier age of GD onset in a dose‐dependent manner.

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“…TLR4 encodes toll like receptor 4, plays a role in stimulating immune reactions. Furthermore, TLR-9 rather than TLR-4 gene polymorphisms are related to increased susceptibility of TED (44), and may contribute to the pathogenesis of TED in children (45). The results of our study indicated that TLR4, a hub gene, is down-regulated in TED orbital adipose tissues.…”

Section: Discussionmentioning

confidence: 59%

Bioinformatic Analysis Identifies Potentially Key Differentially Expressed Genes and Pathways in Orbital Adipose Tissues of Patients with Thyroid Eye Disease

Zhu

Yang

2019

Acta Endo (Buc)

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Context. Thyroid eye disease (TED), an orbital inflammatory status, generally occurred in Graves' disease. Objective. This study aimed to acquire further insight into molecular mechanisms of TED, especially several key involved genes and pathways. Design. The microarray dataset GSE58331 including expression data for orbital adipose tissue samples, isolated from TED patients and normal controls, was downloaded from a publicly accessible Gene Expression Omnibus database. Differentially expressed genes (DEGs) were identified from 23 adipose tissues of TED patients versus 20 samples from normal controls. Subjects and Methods. A protein-protein interaction network of DEGs was constructed by using Search Tool for the Retrieval of Interacting Genes and Cytoscape 3.6.0. Several hub genes/proteins were extracted from the proteinprotein interaction network based on connectivity degree. Furthermore, we used the iRegulon plugin of Cytoscape3.6.0 to predict the transcription factors (TFs). Results. A total of 678 DEGs (538 up-and 140 down-regulated genes) were identified in TED patients. Proopiomelanocortin (POMC), interleukin 2 (IL-2), G protein subunit gamma 3 (GNG3), CXC motif chemokine receptor 4 (CXCR4), toll like receptor 4 (TLR4), colony stimulating factor 1 receptor (CSF1R), lysophosphatidic acid receptor 3 (LPAR3), CXC motif chemokine ligand-8 (CXCL8), etc., were considered as the hub genes among the DEGs. There were 6 TFs predicted to be differentially expressed in regulating the DEGs related to TED. A total of 71 DEGs had been reported to be associated with TED in the Comparative Toxicogenomics Database. Conclusions. Through this analysis, we have identified plenty of potential biomarkers and pathways which may have an important role in the pathogenesis of TED. However, these findings require verification by more detailed future experimental studies.

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Association of Polymorphisms inToll-Like Receptors 4and9with Autoimmune Thyroid Disease in Korean Pediatric Patients

Cited by 19 publications

References 39 publications

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Bioinformatic Analysis Identifies Potentially Key Differentially Expressed Genes and Pathways in Orbital Adipose Tissues of Patients with Thyroid Eye Disease

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