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

BMC Endocrine Disorders

Jin An Zhang¹  Lian Hua Zhou¹  Xiao Hong Shi¹  Wen Juan Jiang¹  Ling Xiao¹  Fatuma Said Muhali¹  Yuan Feng Zhu³  Wan Xia Xiao⁴  Jian Zhang² 

[1] Endocrinology Department, Jinshan Hospital, Fudan University, 1508 Longhang Road, Shanghai 201508, China;Department of Clinical Laboratory, Jinshan Hospital of Fudan University, Shanghai 201508, China;Endocrinology Department, Weinan Central Hospital, Weinan, Shaanxi 714000, China;Internal Medicine Department, Xi’an Aviation Group Hospital, Xi’an 710021, China

关键词: Single nucleotide polymorphism (SNP);    Hashimoto’s thyroiditis;    Graves’ disease;    Interleukin-21 receptor (IL-21R);    Interleukin-21 (IL-21);   

Others  :  1085783
DOI  :  10.1186/1472-6823-13-26

 received in 2012-10-22, accepted in 2013-07-19,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Zhang et al.; licensee BioMed Central Ltd.

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