<i>TSHR</i>Gene Polymorphisms in the Enhancer Regions Are Most Strongly Associated with the Development of Graves’ Disease, Especially Intractable Disease, and of Hashimoto's Disease

Fujii, Atsuhiro; Inoue, Naohisa; Watanabe, Mikio; Kawakami, Chisa; Hidaka, Yoh; Hayashizaki, Yoshihide; Iwatani, Yoshinori

doi:10.1089/thy.2016.0345

Cited by 19 publications

(14 citation statements)

References 28 publications

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“…In 2011, Mihaela Stefan et al revealed a new mechanism of interaction between the TG promoter SNP variant with viral infection to AITDs, which laid the foundation for further exploration [32]. However, an explicit link [33][34][35][36][37]. But which SNPs of TSHR can confer risk for AITDs remains an intractable problem.…”

Section: Discussionmentioning

confidence: 99%

WITHDRAWN: Target region sequencing and gene polymorphism of Chinese Uyghur individuals with autoimmune thyroid diseases (AITDs)

Wang¹,

Wang²,

Guo³

et al. 2017

Oncotarget

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The autoimmune thyroid diseases (AITDs) can mainly involve complex interactions between environmental exposure and genetic susceptibility. At present, a majority of AITDs relative genes have been identified, but the results of different ethnic origin are inconsistent. Due to the special genetic characteristics of Uyghur and the unique environment of Xinjiang Uyghur Autonomous Region, the specific pathogenesis of AITDs Uyghur patients remains unknown. Our study was carried out in the group of 100 AITDs Uyghur patients (50 GD and 50 HT) and 50 Uyghur controls. DNA was extracted from peripheral blood leukocytes and region sequencing was performed to identify candidate genes and single nucleotide polymorphisms (SNPs). Following quality control, Chi-square and logistic regression tests were used for detecting the different frequencies of genotypes and alleles between cases and controls. The results of our analyses showed that the polymorphisms of TPO, TG, TSHR and PTPRC genes were associated with AITDs Uyghur patients; CD28, TPO, PTPRC and TG were related to GD; TG, STAT3 and IL2RA were connected with HT. In conclusion, our study may explore several SNPs associate with AITDs in Chinese Uyghur individuals.

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Section: Discussionmentioning

confidence: 99%

WITHDRAWN: Target region sequencing and gene polymorphism of Chinese Uyghur individuals with autoimmune thyroid diseases (AITDs)

Wang¹,

Wang²,

Guo³

et al. 2017

Oncotarget

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“…Candidate gene case-control studies identified several putative susceptibility variants associated with AITD development or progression. These included variants in genes encoding proteins related to inflammation, modulation of immune responses, or specific for the thyroid, such as: human leukocyte antigen (HLA) class I and class II, forkhead box P3 (FOXP3), cytotoxic T-lymphocyte-associated protein 4 (CTLA4), cluster of differentiation 40 (CD40), protein tyrosine phosphatase, non-receptor type 22 (PTPN22), selenoprotein S (SEPS1), IL4, IL2 receptor α (IL2RA), VDR, Tg, TSH receptor (TSHR), signal transducer and activator of transcription 3 (STAT3), and STAT4, with HLA-DR3 carrying the highest risk ( 2 , 114 – 120 ). Among non-HLA genes, CTLA4 and PTPN22 were most consistently identified as predisposing to both HT and GD ( 121 – 124 ), while the TSHR locus appears to be specific for GD, but not HT, suggesting some genetic differences between these two types of AITD ( 125 , 126 ); however, similar to PCOS, candidate gene screening for HT susceptibility mainly generated controversial and non-replicable findings ( 127 – 132 ).…”

Section: Autoimmune Thyroid Diseasementioning

confidence: 99%

Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto’s Thyroiditis: How Far Is Our Understanding?

Żeber‐Lubecka

Hennig

2021

Front. Immunol.

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Polycystic ovary syndrome (PCOS) and Hashimoto’s thyroiditis (HT) are endocrine disorders that commonly occur among young women. A higher prevalence of HT in women with PCOS, relative to healthy individuals, is observed consistently. Combined occurrence of both diseases is associated with a higher risk of severe metabolic and reproductive complications. Genetic factors strongly impact the pathogenesis of both PCOS and HT and several susceptibility loci associated with a higher risk of both disorders have been identified. Furthermore, some candidate gene polymorphisms are thought to be functionally relevant; however, few genetic variants are proposed to be causally associated with the incidence of both disorders together.

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“…In the past two decades, genetic studies in AITD have developed from candidate gene analyses, whole-genome linkage screening, genome-wide association study (GWAS), whole-genome sequencing, and epigenetic studies (16, 40–42). Some thyroid-specific genetic factors are found to be associated with AITD, such as polymorphisms in TSHR gene and thyroglobulin (TG) gene (43–45). Emerging evidence has suggested the important role of immunogenetics in the pathogenesis of AITD, and polymorphisms in these immune-modulating genes can impair immune tolerance and alter T cells’ interactions with antigen-presenting cells during the development of AITD (16, 46).…”

Section: Introductionmentioning

confidence: 99%

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

et al. 2017

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Autoimmune thyroid diseases (AITD) are a group of both B cell- and T cell-mediated organ-specific autoimmune diseases. Graves’ disease and Hashimoto thyroiditis are the two main clinical presentations of AITD. Both genetic and environmental factors have important roles in the development of AITD. Epigenetics have been considered to exert key roles in integrating those genetic and environmental factors, and epigenetic modifications caused by environmental factors may drive genetically susceptibility individuals to develop AITD. Recent studies on the epigenetics of AITD have provided some novel insights into the pathogenesis of AITD. The aim of this review is to provide an overview of recent advances in the epigenetic mechanisms of AITD, such as DNA methylation, histone modifications, and non-coding RNAs. This review highlights the key roles of epigenetics in the pathogenesis of AITD and potential clinical utility. However, the epigenetic roles in AITD are still not fully elucidated, and more researches are needed to provide further deeper insights into the roles of epigenetics in AITD and to uncover new therapeutic targets. Although there are many studies assessing the epigenetic modifications in AITD patients, the clinical utility of epigenetics in AITD remains poorly defined. More studies are needed to identify the underlying epigenetic modifications that can contribute to accurate diagnosis of AITD, adequate choice of treatment approach, and precise prediction of treatment outcomes.

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TSHRGene Polymorphisms in the Enhancer Regions Are Most Strongly Associated with the Development of Graves’ Disease, Especially Intractable Disease, and of Hashimoto's Disease

Abstract: Among the evaluated TSHR gene SNPs, the rs4411444 GG genotype and the rs4903961 C allele in the enhancer regions of the TSHR gene were most strongly associated with the development of GD, especially intractable disease, and that of HD, respectively.

Cited by 19 publications

References 28 publications

WITHDRAWN: Target region sequencing and gene polymorphism of Chinese Uyghur individuals with autoimmune thyroid diseases (AITDs)

WITHDRAWN: Target region sequencing and gene polymorphism of Chinese Uyghur individuals with autoimmune thyroid diseases (AITDs)

Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto’s Thyroiditis: How Far Is Our Understanding?

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

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