The IL18 gene and Hashimoto thyroiditis in children

Huang, Chi‐Yu; Ting, Wei-Hsin; Lo, Fu‐Sung; Wu, Yi-Hsin; Chang, Tzu-Yang; Chan, Hui-Wen; Lin, Wen‐Shan; Chen, Weifang; Lien, Ya-Ping; Lee, Yann-Jinn

doi:10.1016/j.humimm.2012.10.005

Cited by 8 publications

(6 citation statements)

References 45 publications

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“…They did not nd any differences in the − 607 T/G genotype and allele between the two groups. They assumed that the C allele and CT haplotype are risks for HT tendency [25], but we did not nd any signi cant differences in the allele groups.…”

Section: Discussioncontrasting

confidence: 75%

Association Between IL-18 Gene Polymorphism and Hashimoto Thyroiditis

Karakaya¹,

Genç

Çelik

et al. 2021

Preprint

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BackgroundHashimoto’s thyroiditis (HT) is the most frequent organ-specific autoimmune disease (AIT), which is called lymphocytic thyroiditis in which T helper-1 lymphocytes mediate the disease. IL-18 is expressed in thyroid follicular cells (TFCs) during HT. The findings of studies aimed at investigating the relationship between IL-18 and HT are highly contradictory. In this study, we aimed to investigate the association between IL-18 gene polymorphism and HT.Methods and ResultsThe study was included 97 patients diagnosed with HT and 86 volunteers in the healthy control group. The IL18-607C/A (rs1946518) ve -137G/C (rs187238) genotypes were determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. No significant difference in the mean ages and gender was observed between the groups (p = 0.763 and p = 0.658, respectively). -137 IL18 CG genotype is higher in HT than controls. The risk of the IL-18 CG genotype for HT patients was more than 2.237 times higher (OR; 2.237 %95 Cl: 1.195–4.187, p = 0.039) compared to that of the G/G genotype. Also, -607 AC genotype is higher in the control group than in the HT group (in individuals with the IL18 CG genotype).ConclusionsAccording to our results, the CG genotype might be a risk factor for HT. Conversely, there is a possibility that the AC genotype also plays a protective role against the condition. However, further studies will contribute to the emergence of new solutions by revealing the molecular and cellular mechanisms of HT.

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Section: Discussioncontrasting

confidence: 75%

Association Between IL-18 Gene Polymorphism and Hashimoto Thyroiditis

Karakaya¹,

Genç

Çelik

et al. 2021

Preprint

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“…In this study, n is 2 for each genotype, allele, or carrier (for simultaneously testing genotype, allele, and carrier frequencies [ 54 ]) but no correction for testing the three SNPs because of significant linkage between them and 4 for each of the four haplotypes [ 55 ]. A Pc value of less than 0.05 was considered statistically significant [ 56 ].…”

Section: Methodsmentioning

confidence: 99%

Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study

Ting

Chien

et al. 2016

PLoS ONE

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Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimoto disease (HD), is an organ-specific autoimmune disease with a strong genetic component. Although the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphism has been reported to be associated with AITD in adults, few studies have focused on children. The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. We studied 289 adult GD, 265 pediatric GD, 229 pediatric HD patients, and 1058 healthy controls and then compared genotype, allele, carrier, and haplotype frequencies between patients and controls. We found that CTLA4 SNPs +49A/G and CT60 were associated with GD in adults and children. Allele G of +49A/G was significantly associated with GD in adults (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.21–1.84; corrected P value [Pc] < 0.001) and children (OR, 1.42; 95% CI, 1.15–1.77; Pc = 0.002). Allele G of CT60 also significantly increased risk of GD in adults (OR, 1.63; 95% CI, 1.27–2.09; Pc < 0.001) and GD in children (OR, 1.58; 95% CI, 1.22–2.04; Pc < 0.001). Significant linkage disequilibrium was found between +49A/G and CT60 in GD and control subjects (D’ = 0.92). Our results showed that CTLA4 was associated with both GD and HD and played an equivalent role in both adult and pediatric GD in Han Chinese population.

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“…In addition to the aforementioned positive association of HLA-B*4601 with HT, the C/G genotype and allele C of SNP rs187238 in the IL-18 gene conferred an increased risk in children. 98 Analysis of four common polymorphisms of the vitamin-D receptor (VDR) gene, including FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232), suggested that the homozygous C/C VDR-FokI gene polymorphism in exon 2 conferred a higher risk of developing HT in Chinese patients. 99 However, a recent meta-analysis suggested that the BsmI and TaqI polymorphisms were more strongly associated with AITD, whereas ApaI or FokI polymorphisms were not.…”

Section: Other Studies On Htmentioning

confidence: 99%

A systematic review of genetic studies of thyroid disorders in Taiwan

Huang

Jap

2015

Journal of the Chinese Medical Association

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A systematic review of genetic studies of thyroid disorders in Taiwan identified studies of gene mutations involved in the synthesis and binding of thyroid hormone, as well as mutations of proto-oncogenes and tumor suppressor genes in thyroid cancer. Studies related to gene polymorphisms in patients with autoimmune thyroid disease (AITD) and thyroid cancer were also reviewed. The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene. Additional mutations have also been revealed in the genes encoding TPO (n = 5), thyroglobulin (TG; n = 6), pendrin (n = 2), and thyroxine-binding globulin (TBG; n = 2), which were novel at the time they were reported. The prevalence of various somatic mutations in differentiated thyroid cancer was similar in Taiwan and Western countries, with the RAS kinase mutation and tyrosine receptor kinase (TRK) and rearranged during transfection (RET) proto-oncogenes being detected in lower frequencies and the B-type RAF kinase (BRAF) mutation accounting for the majority of cases. Recent microRNA analysis revealed an association between miR146b and the BRAF mutation, which was associated with poor prognosis of papillary thyroid carcinoma (PTC). Susceptibility to Graves' disease (GD) was linked to the human leukocyte antigen (HLA) region. The associated alleles were different in Han-Chinese and Caucasians; HLA-DPB1*0501, the major allele in Taiwan, has a low frequency in the West. By contrast, a high frequency of HLA-DRB1*0301 was detected in Caucasians but not Han-Chinese. In addition to the HLA region, cytotoxic T lymphocyte-associated molecule-4 (CTLA4) gene polymorphisms +49G>A and +6230G>A (CT60) were positively associated with GD. The GG genotype and G allele of single nucleotide polymorphism (SNP) +49G>A were also related to relapse of Graves' hyperthyroidism after antithyroid drug withdrawal. Differences in the genetic patterns between Han-Chinese and Caucasians for some thyroid disorders suggest the importance of variable genetic influences in different populations.

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The IL18 gene and Hashimoto thyroiditis in children

Cited by 8 publications

References 45 publications

Association Between IL-18 Gene Polymorphism and Hashimoto Thyroiditis

Association Between IL-18 Gene Polymorphism and Hashimoto Thyroiditis

Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study

A systematic review of genetic studies of thyroid disorders in Taiwan

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