Association of single-nucleotide polymorphisms in the STAT3 gene with autoimmune thyroid disease in Chinese individualsReportar como inadecuado

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Functional and Integrative Genomics

, Volume 13, Issue 4, pp 455–461

First Online: 01 October 2013Received: 20 May 2013Revised: 19 August 2013Accepted: 10 September 2013


The aim of this study was to investigate the association between signal transducer and activator of transcription 3 STAT3 polymorphisms and autoimmune thyroid diseases and clinical features. We genotyped six single-nucleotide polymorphisms SNPs rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease 417 Graves’ disease GD and 250 Hashimoto’s thyroiditis HT and 301 healthy controls. The allele A from rs1053005 was significantly less frequent in both GD and HT patients P = 0.0024, OR = 0.6958, 95%CI = 0.5508–0.8788; P = 0.0091, OR = 0.7013, 95%CI = 0.5397–0.9112, respectively. The AA genotype of rs1053005 was less in GD and HT patients too P = 0.0025,OR = 0.6278, 95%CI = 0.466–0.847 and P = 0.0036,OR = 0.601, 95%CI = 0.428–0.843. The allele G from rs17593222 increased the susceptibility to the ophthalmopathy development both in autoimmune thyroid disease AITD and GD patients P = 0.0007, OR = 3.980, 95%CI = 1.871–8.464; P = 0.0081, OR = 3.378, 95%CI = 1.441–7.919, respectively. The allele A and AA genotype of SNP rs1053005 may protect individuals from the susceptibility to AITD and their frequency decreased in AITD patients. In addition, the allele G of rs17593222 may increase the ophthalmopathy risk in AITD patients. Our findings suggest the existence of association between STAT3 gene and AITD, thus adding STAT3 gene to the list of the predisposing genes to AITD.

KeywordsSignal transducer and activator of transcription 3 STAT3 Single-nucleotide polymorphisms SNPs Autoimmune thyroid disease Graves’ disease Hashimoto’s thyroiditis  Download fulltext PDF

Autor: Ling Xiao - Fatuma-Said Muhali - Tian-tian Cai - Rong-hua Song - Renming Hu - Xiao-hong Shi - Wen-juan Jiang - Dan-Feng Li


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