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Polymorphisms of interleukin-21 and interleukin-21-receptor genes confer risk for autoimmune thyroid diseases.

ABSTRACT: BACKGROUND: The abnormality of interleukin-21 (IL-21)-IL-21-receptor (IL-21R) system has been found in many autoimmune diseases including autoimmune thyroid diseases (AITDs). In this study, we investigated whether polymorphisms of the IL-21 and IL-21R are associated with Graves' disease (GD) and Hashimoto's thyroiditis (HT), two major forms of AITDs, among a Chinese population. METHODS: Rs907715, rs4833837, rs2221903 and rs2055979 of the IL-21 gene and rs3093301 and rs2285452 of the IL-21R gene were explored in a case-control study including 405 GD, 228 HT patients and 242 controls. These genes were genotyped by the PCR and restriction fragment length polymorphism (RFLP) analysis and the MASS spectrometry method. RESULTS: For IL-21 gene, we identified and confirmed a higher prevalence of A alleles of rs2221903 (P?=?0.018, OR?=?1.50 95% CI?=?1.07-2.09) in GD patients. We also found a significant association between rs2221903 and HT (allele: P?=?0.009, OR?=?1.69 95% CI?=?1.13-2.51; genotype: recessive P?=?0.021, OR?=?11.72 95% CI?=?1.46-94.13). For the IL-21R gene, compared with controls, the genotype frequencies of rs3093301 and rs2285452 were significantly different in HT patients using dominant genetic model (P?=?0.023, OR?=?1.61 95% CI?=?1.07-2.42; P?=?0.031, OR?=?1.71 95% CI?=?1.05-2.80, respectively). Furthermore, the haplotype AA containing the major alleles of rs4833837 and rs2221903 was associated with increased susceptibility to GD with an OR of 1.50(95% CI =1.08-2.09, P?=?0.016), and to HT with an OR of 1.69(95% CI =1.14-2.52, P?=?0.009). CONCLUSION: Our results indicated that the SNPs of the IL-21 gene is associated with the development of GD. In addition, we found that individuals with the SNPs of the common IL-21 and IL-21R may have higher risk of HT.

SUBMITTER: Zhang J

PROVIDER: S-EPMC3766107 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Polymorphisms of interleukin-21 and interleukin-21-receptor genes confer risk for autoimmune thyroid diseases.

Zhang Jian J Xiao Wan Xia WX Zhu Yuan Feng YF Muhali Fatuma Said FS Xiao Ling L Jiang Wen Juan WJ Shi Xiao Hong XH Zhou Lian Hua LH Zhang Jin An JA

BMC endocrine disorders 20130729

<h4>Background</h4>The abnormality of interleukin-21 (IL-21)-IL-21-receptor (IL-21R) system has been found in many autoimmune diseases including autoimmune thyroid diseases (AITDs). In this study, we investigated whether polymorphisms of the IL-21 and IL-21R are associated with Graves' disease (GD) and Hashimoto's thyroiditis (HT), two major forms of AITDs, among a Chinese population.<h4>Methods</h4>Rs907715, rs4833837, rs2221903 and rs2055979 of the IL-21 gene and rs3093301 and rs2285452 of the ...[more]

PMID: 23889847

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Project description:BackgroundAutoimmune thyroid disease (AITD) comprises diseases including Hashimoto's thyroiditis and Graves' disease, both characterized by reactivity to autoantigens causing, respectively, inflammatory destruction and autoimmune stimulation of the thyroid-stimulating hormone receptor. AITD is the most common thyroid disease and the leading form of autoimmune disease in women. Cytokines are key regulators of the immune and inflammatory responses; therefore, genetic variants at cytokine-encoding genes are potential risk factors for AITD.MethodsPolymorphisms in the IL6-174 G/C (rs1800795), TNFA-308 G/A (rs1800629), IL1B-511 C/T (rs16944), and IFNGR1-56 T/C (rs2234711) genes were assessed in a case-control study comprising 420 Hashimoto's thyroiditis patients, 111 Graves' disease patients and 735 unrelated controls from Portugal. Genetic variants were discriminated by real-time PCR using TaqMan SNP genotyping assays.ResultsA significant association was found between the allele A in TNFA-308 G/A and Hashimoto's thyroiditis, both in the dominant (OR?=?1.82, CI?=?1.37-2.43, p-value?=?4.4×10(-5)) and log-additive (OR?=?1.64, CI?=?1.28-2.10, p-value?=?8.2×10(-5)) models. The allele C in IL6-174 G/C is also associated with Hashimoto's thyroiditis, however, only retained significance after multiple testing correction in the log-additive model (OR?=?1.28, CI?=?1.06-1.54, p-value?=?8.9×10(-3)). The group with Graves' disease also registered a higher frequency of the allele A in TNFA-308 G/A compared with controls both in the dominant (OR?=?1.85, CI?=?1.19-2.87, p-value?=?7.0×10(-3)) and log-additive (OR?=?1.69, CI?=?1.17-2.44, p-value?=?6.6×10(-3)) models. The risk for Hashimoto's thyroiditis and Graves' disease increases with the number of risk alleles (OR for two risk alleles is, respectively, 2.27 and 2.59).ConclusionsThis study reports significant associations of genetic variants in TNFA and IL6 with the risk for AITD, highlighting the relevance of polymorphisms in inflammation-related genes in the etiopathogenesis of AITD.

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Polymorphisms of interleukin-21 and interleukin-21-receptor genes confer risk for autoimmune thyroid diseases.

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Polymorphisms of interleukin-21 and interleukin-21-receptor genes confer risk for autoimmune thyroid diseases.

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