Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China

Ting Wei Guo, Fu Chang Zhang, Jian Jun Gao, Li Bian, Xiao Cai Gao, Jie Ma, Maosheng Yang, Qian Ji, Shi Wei Duan, Zi Jian Zheng, Rui Lin Li, Guo Yin Feng, David St. Clair, Lin He

Research output: Contribution to journalArticle

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Abstract

Mental retardation (MR) is one of the most frequent handicaps among children. Fetal iodine deficiency disorder (FIDD) is the commonest cause of preventable MR. However, not everyone in the iodine-deficient areas is affected and familial aggregation is common. This suggests that genetic factors may play an important role. Thyroid hormone (TH) plays an important role in fetal and early postnatal brain development. The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) is located on the surface of thyroid cells and binds TSH. It results in the production of thyroid hormones via the activation of adenylate cyclase and phospatidylinositol-dependent signaling pathways. Some researchers formulated the hypothesis that TSH receptor expression in the brain may be involved in local thyroid homeostasis through TSH stimulating the DIO2 activity. In the previous study, we have proposed that DIO2 may protect against FIDD in the iodine-deficient areas of China. The TSHR gene, which located on chromosome 14q31 is a potential candidate gene for susceptibility to FIDD. To investigate the potential genetic contribution of TSHR gene, we performed a case-control association study in Chinese Han population from the Qin-Ba mountain regions using four common SNPs in the gene (rs2284716, rs917986, rs2075173 and rs2075179). Pairwise linkage disequilibrium (LD) analysis showed that LD was observed between rs2284716 and rs917986 and between rs2075173 and rs2075179. Single-locus analysis found that all four SNPs in TSHR gene showed no association after correction for multiple testing. Haplotype analysis showed no significant differences in frequency for three sets of haplotypes based on the pariwise LD results. In conclusion, our association results suggest that TSHR gene is not a susceptibility gene for FIDD in the iodine-deficient areas of China.

Original languageEnglish (US)
Pages (from-to)179-184
Number of pages6
JournalNeuroscience Letters
Volume382
Issue number1-2
DOIs
StatePublished - Jul 1 2005
Externally publishedYes

Fingerprint

Thyrotropin Receptors
Intellectual Disability
Iodine
China
Chromosomes
Congenital Hypothyroidism
Linkage Disequilibrium
Genes
Thyroid Hormones
Haplotypes
Single Nucleotide Polymorphism
Thyroid Gland
Thyrotrophs
Brain
Thyrotropin
Adenylyl Cyclases
Case-Control Studies
Homeostasis
Research Personnel
Population

Keywords

  • Haplotype
  • Linkage disequilibrium
  • Mental retardation (MR)
  • Thyroid hormone
  • TSHR (thyrotropin receptor)

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China. / Guo, Ting Wei; Zhang, Fu Chang; Gao, Jian Jun; Bian, Li; Gao, Xiao Cai; Ma, Jie; Yang, Maosheng; Ji, Qian; Duan, Shi Wei; Zheng, Zi Jian; Li, Rui Lin; Feng, Guo Yin; St. Clair, David; He, Lin.

In: Neuroscience Letters, Vol. 382, No. 1-2, 01.07.2005, p. 179-184.

Research output: Contribution to journalArticle

Guo, TW, Zhang, FC, Gao, JJ, Bian, L, Gao, XC, Ma, J, Yang, M, Ji, Q, Duan, SW, Zheng, ZJ, Li, RL, Feng, GY, St. Clair, D & He, L 2005, 'Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China', Neuroscience Letters, vol. 382, no. 1-2, pp. 179-184. https://doi.org/10.1016/j.neulet.2005.03.007
Guo, Ting Wei ; Zhang, Fu Chang ; Gao, Jian Jun ; Bian, Li ; Gao, Xiao Cai ; Ma, Jie ; Yang, Maosheng ; Ji, Qian ; Duan, Shi Wei ; Zheng, Zi Jian ; Li, Rui Lin ; Feng, Guo Yin ; St. Clair, David ; He, Lin. / Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China. In: Neuroscience Letters. 2005 ; Vol. 382, No. 1-2. pp. 179-184.
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abstract = "Mental retardation (MR) is one of the most frequent handicaps among children. Fetal iodine deficiency disorder (FIDD) is the commonest cause of preventable MR. However, not everyone in the iodine-deficient areas is affected and familial aggregation is common. This suggests that genetic factors may play an important role. Thyroid hormone (TH) plays an important role in fetal and early postnatal brain development. The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) is located on the surface of thyroid cells and binds TSH. It results in the production of thyroid hormones via the activation of adenylate cyclase and phospatidylinositol-dependent signaling pathways. Some researchers formulated the hypothesis that TSH receptor expression in the brain may be involved in local thyroid homeostasis through TSH stimulating the DIO2 activity. In the previous study, we have proposed that DIO2 may protect against FIDD in the iodine-deficient areas of China. The TSHR gene, which located on chromosome 14q31 is a potential candidate gene for susceptibility to FIDD. To investigate the potential genetic contribution of TSHR gene, we performed a case-control association study in Chinese Han population from the Qin-Ba mountain regions using four common SNPs in the gene (rs2284716, rs917986, rs2075173 and rs2075179). Pairwise linkage disequilibrium (LD) analysis showed that LD was observed between rs2284716 and rs917986 and between rs2075173 and rs2075179. Single-locus analysis found that all four SNPs in TSHR gene showed no association after correction for multiple testing. Haplotype analysis showed no significant differences in frequency for three sets of haplotypes based on the pariwise LD results. In conclusion, our association results suggest that TSHR gene is not a susceptibility gene for FIDD in the iodine-deficient areas of China.",
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AU - Guo, Ting Wei

AU - Zhang, Fu Chang

AU - Gao, Jian Jun

AU - Bian, Li

AU - Gao, Xiao Cai

AU - Ma, Jie

AU - Yang, Maosheng

AU - Ji, Qian

AU - Duan, Shi Wei

AU - Zheng, Zi Jian

AU - Li, Rui Lin

AU - Feng, Guo Yin

AU - St. Clair, David

AU - He, Lin

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