Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis

Wu, Qian; Xu, Kuanfeng; Jia, Wenting; Lan, Ling; Zheng, Xuqin; Yang, Xueyang; Cui, Dai

doi:10.7555/jbr.30.20140144

Cited by 12 publications

(2 citation statements)

References 41 publications

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“…In conjunction with exposure to environmental risk factors such as smoking, virus infection, iodine intake as well as use of certain drugs, genetically predisposed individuals are more likely to develop GD (2). So far, variations in several genes, in particular immune regulatory genes, have been found to be closely related with the development of GD, including CD40 (4), vitamin D receptor (5), PTPN22 (6), STAT4 (7), IL-6 (8), IL-2 (9), IL-2RA (10), IL-10 (11), TSHR (12,13), TG (14), and CTLA4 (15). Similar mechanisms could also be implicated in the pathogenesis of Graves' ophthalmopathy (GO), which affects up to half of the patients with GD.…”

Section: Introductionmentioning

confidence: 99%

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

et al. 2020

Front. Endocrinol.

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Purpose: This systematic review and meta-analysis was carried out with the aim of investigating the relationship between Foxp3 polymorphisms (rs3761547, r3761548, and rs3761549) and the risk of Graves' disease (GD). Methods: Four online database including PubMed, EMBASE, ISI Web of Science, and CNKI were searched to identify observational studies that evaluated the association between Foxp3 polymorphisms and risk of GD. The strength of associations was indicated as odds ratio (OR) and corresponding 95% confidence interval (95%CI) under the allelic model. The Newcastle-Ottawa Scale was used to assess the methodological quality. Pre-specified subgroup analysis and sensitivity analysis were performed using RevMan 5.3 software. Publication bias was detected by Egger's and Begg's tests. Results: Eight case control studies involving 3,104 GD patients and 3,599 healthy controls were included. The methodological quality of included studies was considered to be moderate to high. The results of our meta-analysis supported no association of rs3761547 and risk of GD in Asians (OR: 1.07, 95%CI 0.97, 1.19, P = 0.18). Evidence for rs3761547 and GD risk among Caucasians was still limited because only one study reported marginally increased risk of GD with the minor allele of rs3761547 (P = 0.04). The variant allele of both rs3761548 (OR: 1.31, 95%CI 1.04, 1.64; P = 0.02) and rs3761549 (OR: 1.30, 95%CI 1.03, 1.64; P = 0.03) was associated with increased risk of GD among Asians, but neither polymorphism turned out to be related with GD among Caucasians. Conclusion: Rs3761548 and rs3761549 polymorphisms in Foxp3 were associated with risk of GD among Asians, possibly due to suppressed function of regulatory T cells and augmented autoimmune response. Their genetic effect among Caucasians remained to be confirmed by future large-scale and well-designed studies.

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Section: Introductionmentioning

confidence: 99%

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

et al. 2020

Front. Endocrinol.

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“…Recently, three meta-analysis studies intended to refine the effects of rs179247 and rs12101255 SNPs on GD susceptibility concluded that there is a significant association between these SNPs in TSHR intron 1 and GD (44–46). …”

Section: Association Studiesmentioning

confidence: 99%

Genetics of Thyroid-Stimulating Hormone Receptor—Relevance for Autoimmune Thyroid Disease

Stefan

Faustino

2017

Front. Endocrinol.

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Production of thyroid-stimulating hormone receptor (TSHR) antibodies represents the hallmark of Graves’ disease (GD) pathogenesis. Thus, for more than two decades the TSHR gene has been at the center of studies intended to elucidate its contribution to disease pathology. The advent of genome-wide association technology allowed to establish a strong association of the TSHR gene with GD. Subsequent fine-mapping studies narrowed the disease-susceptibility region to a 40 kb sequence in intron 1, where at least five GD-associated SNPs in tight linkage disequilibrium were identified. The current challenge is to understand the functional mechanisms by which these polymorphisms modify physiological processes and trigger disease. The aim of this review is to summarize the current knowledge on the role of the TSHR gene in GD pathogenesis, which has been gained through linkage and association studies, as well as to discuss the emerging mechanisms underlying biological implications of TSHR variants in the development of GD.

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Autoimmune thyroid diseases

Bartalena,

Gallo,

Tanda

2024

The Rose and Mackay Textbook of Autoimmune Diseases

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Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis

Cited by 12 publications

References 41 publications

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies

Genetics of Thyroid-Stimulating Hormone Receptor—Relevance for Autoimmune Thyroid Disease

Autoimmune thyroid diseases

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