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Study on the Relationship Between TSHR Gene and Thyroid Diseases

  • Translational Biomedical Research
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Abstract

Thyroid stimulating hormone receptor (TSHR) is thought to play a critical role in the pathogenesis of certain thyroid diseases, including Graves’ disease (GD), multinodular thyroid goiter (MTG), and Hashimoto’s thyroiditis (HT). In order to understand whether single nucleotide polymorphisms in the TSHR gene contribute to thyroid diseases, we have conducted a case–control study in which, we examined 8 TSHR gene single-nucleotide polymorphisms in introns 1, 4, 5, 6 and exons 7 and 8, respectively, among patients with thyroid diseases. These included one family with GD (3 patients and 9 healthy members); 60 patients with familiar thyroid diseases (30 with GD, 20 with MTG, and 10 with HT patients), 48 sporadic patients with GD and 96 healthy control individuals. Direct sequencing of all 10 exons and part of introns of TSHR gene, in these patients as well as healthy controls revealed eight polymorphisms. A novel polymorphism in exon 8 AGA(Arg) → CGA(Arg). However, there were no significant differences between patients and controls in the incidence of these polymorphisms. These results suggest that the polymorphisms (polymorphism in intron 1 at 81 bp upstream of exon 2; polymorphism in intron 4 at 135 bp upstream of exon 5; polymorphism in intron 4 at 365 bp upstream of exon 5; polymorphism in intron 5 at 69 bp upstream of exon 6; means polymorphism in intron 6 at 13 bp downstream of exon 6; polymorphism in intron 6 at 187 bp upstream of exon 7; E7+16: polymorphism in 16 bp of exon 7; polymorphism in 40 bp of exon 8) of the TSHR gene may not contribute to the pathogenesis of thyroid diseases.

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Acknowledgments

This work was supported by the Natural Science Foundation of Shanghai (11ZR1429500) and the health system key discipline group of pudong New District (PWZxkq2010-05).

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Authors and Affiliations

  1. Department of Geratology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, 200120, China

    Li Shao, Hua Jiang, Xianping Niu, Lili Teng & Hua Zhang

  2. Department of Endocrinology, The 4th Hospital of XuZhou, XuZhou, 221000, JiangSu Province, China

    Jun Liang

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  1. Li Shao
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  2. Hua Jiang
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  3. Jun Liang
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  4. Xianping Niu
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Correspondence to Hua Zhang.

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Li Shao, HuaJiang, and Jun Liang contributed equally to this work.

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Shao, L., Jiang, H., Liang, J. et al. Study on the Relationship Between TSHR Gene and Thyroid Diseases. Cell Biochem Biophys 61, 377–382 (2011). https://doi.org/10.1007/s12013-011-9194-4

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