Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population

Liu, Lin; Wu, H.-L.; Wang, Qiong; Zhu, Yuanfeng; Zhang, Wen; Guan, Lijuan; Zhang, Jinan

doi:10.1507/endocrj.ej12-0024

Cited by 31 publications

(25 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results demonstrate that the polymorphism rs179247 increased the risk for GD, although it did not correlate with clinical features of the disease. A series of reports have been confirming that the inheritance of AA genotype for TSHR rs179247 increases the risk for GD [29,30,47,48]. However, contradicting our results, Lui et al [47] suggested that the A allele in rs179247 was highly increased in Chinese patients with GO only, whereas Jurecka-Lubieniecka et al [49] demonstrated that younger patients without GO, in whom GD was diagnosed before 30 years of age, the A allele was more frequent.…”

Section: Discussioncontrasting

confidence: 82%

See 1 more Smart Citation

TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves’ disease and Graves’ ophthalmopathy

Bufalo

Santos

Marcello

et al. 2014

J Endocrinol Invest

View full text Add to dashboard Cite

show abstract

Section: Discussioncontrasting

confidence: 82%

“…Previous studies recently demonstrated that intronic polymorphisms have gained attention, especially because of their possible roles in the regulation of TSHR expression [16,[28][29][30][31][32]. Intronic polymorphisms are responsible for generation of different receptors forms [12].…”

Section: Introductionmentioning

confidence: 99%

TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves’ disease and Graves’ ophthalmopathy

Bufalo

Santos

Marcello

et al. 2014

J Endocrinol Invest

View full text Add to dashboard Cite

show abstract

“…One explanation for this discrepancy could be that TSHR and TG (but not TPO) are polymorphic. Single-nucleotide polymorphisms (SNPs) in TSHR have been specifically associated with Graves' disease and not with autoimmune hypothyroidism in a Caucasian population (15,16), although more recently associations with Hashimoto's thyroiditis as well are described in a Chinese Han population (17). The functional consequences of these intronic SNPs are not entirely clear.…”

Section: Genetic Factorsmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Autoimmune thyroid disease: old and new players

Effraimidis

Wiersinga

2014

European Journal of Endocrinology

277

196

View full text Add to dashboard Cite

The last 10 years have seen some progress in understanding the etiology of autoimmune thyroid disease (AITD). The female preponderance can now be explained -at least in part -by fetal microchimerism and X-chromosome inactivation. The number of identified susceptibility genes for AITD is increasing (among others now including TSHR, TG, HLA, CTLA4, PTPN22, CD40, FCRL3, IL2RA, and FOXP3), but these genes together probably do not explain more than about 10% of the heritability of AITD. As twin studies indicate that genes contribute for 70% of AITD, it follows that there must be many more loci, each of them contributing a little. While the genetic studies have clarified why various autoimmune diseases so often cluster in the same patient, the molecular mechanism of action of these genetic polymorphisms (frequently located in introns) has hardly been explained. Polymorphisms in AITD susceptibility genes may become helpful in clinical practice, e.g. in assessing risk of recurrent Graves' hyperthyroidism (GH) after a course of antithyroid drugs. Moderate alcohol intake decreases the risk on overt GH and overt Hashimoto's hypothyroidism. Current smokers -as well known -are at increased risk for Graves' disease, but -surprisingly -at diminished risk for Hashimoto's thyroiditis. Low selenium and low vitamin D levels might increase the risk of developing AITD, but data are still inconclusive. Current options for preventive interventions in subjects at risk to develop AITD are very limited.

show abstract

“…However, the pathogenesis of AITD remains unclear. In the past decade, several genetic polymorphisms have been found to be associated with AITD susceptibility, such as genetic polymorphisms in the genes encoding TSHR, human leukocyte antigen (HLA) and cytotoxic T lymphocyteassociated antigen-4 (CTLA4) (4)(5)(6)(7). Other genetic polymorphisms associated with AITD susceptibility have also been reported, such as polymorphisms in the CD40, IL-17, FCRL3 and protein tyrosine phosphatase-22 (PTPN22) genes (8)(9)(10)(11).…”

Section: Introductionmentioning

confidence: 99%

Association between C1q gene polymorphisms and autoimmune thyroid diseases

Yao

et al. 2017

Arch. Endocrinol. Metab.

Self Cite

View full text Add to dashboard Cite

Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnicallyand geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped. Frequencies of genotypes and alleles were compared between patients and controls, and haplotype analysis was also performed. Results: There was no statistically significant difference between AITD patients and controls in the frequencies of alleles of rs294185 (P = 0.41), rs292001 (P = 0.71), rs682658 (P = 0.68), rs665691 (P = 0.68) and rs294179 (P = 0.69). There was also no statistically significant difference between AITD patients and controls in the frequencies of genotypes of rs294185 (P = 0.72), rs292001 (P = 0.89), rs682658 (P = 0.83), rs665691 (P = 0.90) and rs294179 (P = 0.43). Stratified analyses showed that none of those five SNPs in C1q gene were associated with Graves' disease or Hashimoto's thyroiditis (all P values > 0.05). Haplotype analysis revealed that there were no obvious genetic associations of C1q gene polymorphisms with AITD susceptibility. Conclusions: We, for the first time, identified the associations between C1q gene SNPs and AITD, and our findings suggested that five common SNPs in C1q gene were not associated with AITD susceptibility in Chinese Han population. Arch Endocrinol Metab. 2017;61(3):337-42.

show abstract

Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population

Cited by 31 publications

References 27 publications

TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves’ disease and Graves’ ophthalmopathy

TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves’ disease and Graves’ ophthalmopathy

MECHANISMS IN ENDOCRINOLOGY: Autoimmune thyroid disease: old and new players

Association between C1q gene polymorphisms and autoimmune thyroid diseases

Contact Info

Product

Resources

About