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Int. J. Mol. Sci. 2014, 15(7), 12280-12293; doi:10.3390/ijms150712280
Article

Association between STAT4 Gene Polymorphisms and Autoimmune Thyroid Diseases in a Chinese Population

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†,*  and †,*
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China These authors contributed equally to this work.
* Authors to whom correspondence should be addressed.
Received: 14 May 2014 / Revised: 29 May 2014 / Accepted: 26 June 2014 / Published: 11 July 2014
(This article belongs to the Section Molecular Pathology)
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Abstract

The STAT4 gene encodes a transcriptional factor that transmits signals induced by several key cytokines which play important roles in the development of autoimmune diseases. The aim of this study was to explore the association of STAT4 polymorphism with Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). A total of 1048 autoimmune thyroid diseases (AITDs) patients (693 with GD and 355 with HT) and 909 age- and gender-matched controls were examined. STAT4 polymorphisms (rs7574865/rs10181656/ rs7572482) were genotyped by multiplex polymerase chain reaction (PCR) and ligase detection reaction (LDR). The results indicated that the frequencies of rs7574865 genotypes in patients with GD differed significantly from the controls (p = 0.028), the T allele frequency of GD patients was also significantly higher than the controls (p = 0.020). The genotypes of rs10181656 differed significantly in GD patients from controls (p = 0.012); G allele frequencies were significantly higher in AITD patients than the controls (p = 0.014 and 0.031, respectively). The frequencies of haplotype GC with GD and HT patients were significantly lower than their controls (p = 0.015 and 0.030, respectively). In contrast, the frequencies of haplotype TG with GD and HT patients were significantly higher than their controls (p = 0.016 and 0.048, respectively). These findings strongly suggest that STAT4 rs7574865/rs10181656 polymorphisms increase the risk of AITD in a Chinese population.
Keywords: STAT4; Graves’ disease; Hashimoto’s thyroiditis; single nucleotide polymorphism (SNP) STAT4; Graves’ disease; Hashimoto’s thyroiditis; single nucleotide polymorphism (SNP)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Yan, N.; Meng, S.; Zhou, J.; Xu, J.; Muhali, F.S.; Jiang, W.; Shi, L.; Shi, X.; Zhang, J. Association between STAT4 Gene Polymorphisms and Autoimmune Thyroid Diseases in a Chinese Population. Int. J. Mol. Sci. 2014, 15, 12280-12293.

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