Abstract
BackgroundPolymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag SNP have been shown to be associated with the susceptibility to several immune-related diseases. This study was conducted to identify the association of CCR6 and RNASET2 tag SNP with autoimmune thyroid diseases (AITDs) in the Chinese Han population.MethodsWe enrolled 1061 patients with AITDs, including 701 patients with Graves’ disease (GD) and 360 patients with Hashimoto’s thyroiditis (HT), and 938 healthy individuals for a case–control genetic association study. Three CCR6 single nucleotides polymorphisms (SNPs) (rs3093023/rs3093024/rs6902119) and one tagging SNP (rs9355610) within RNASET2 gene were selected for genotyping by multiplex polymerase chain reaction (PCR) and ligase detection reaction (LDR).ResultsThe frequency of rs9355610 genotypes in the patients with GD differed significantly from that in the controls (p = 0.017). The frequency of the minor G allele of rs9355610 was significantly higher in the GD patients than in the healthy controls (p = 0.005, OR = 1.225, 95% CI:1.063-1.412). However, we could not find significant differences in the genotype or allele frequencies of HT patients compared with healthy controls. After gender stratification, the frequency of the minor G allele in both male and female GD patients was significantly higher than that in the healthy controls (p = 0.036, OR = 1.308, 95% CI:1.017-1.684 ; p = 0.048, OR = 1.19, 95% CI:1.001-1.413; respectively);. Furthermore, the frequency of haplotype AT in GD patients was significantly lower than that in their control groups (p = 0.003) and showed a protective effect against GD (OR = 0.806, 95% CI: 0.699-0.929). The frequency of haplotype GT in GD patients was significantly higher than that in their control groups (p = 0.048), indicating that GT was the risk haplotype to GD (OR = 1.267, 95% CI: 1.001-1.603). There were no significant differences in the allele or genotype frequencies of three SNPs of CCR6 (rs3093023/rs3093024/ rs6902119) gene between GD patients, HT patients and controls.ConclusionsOur results suggest that the rs9355610 tag SNP of RNASET2 gene is positively associated with susceptibility to GD in the Chinese Han population. No association was found for the tested CCR6 SNPs.
Highlights
Polymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag single nucleotides polymorphisms (SNPs) have been shown to be associated with the susceptibility to several immune-related diseases
Clinical characteristics of the subjects To investigate whether four selected SNPs contribute to the susceptibility to autoimmune thyroid diseases (AITDs), we performed a case and control association study
There were no significant differences in the allele or genotype frequencies of three SNPs of CCR6 between AITD patients, Graves’ disease (GD) patients, Hashimoto’s thyroiditis (HT) patients and controls
Summary
Polymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag SNP have been shown to be associated with the susceptibility to several immune-related diseases. The putative GD and HT susceptibility genes include both immune modifying genes HLA Class II gene [3,4], cytotoxic T lymphocyte-associated factor 4 (CTLA-4) gene [5,6], CD40 gene [5,6,7], protein tyrosine phosphatase-22 (PTPN22) gene [5], and other thyroidspecific genes for the thyroid stimulating hormone receptor (TSHR) [5,8] and thyroglobulin (TG) [9], as well as the novel proinflammatory cytokine such as interleukin-17 (IL-17) [10] and IL-21 [11] All these data suggest that genetic factors may play an important role in the pathogenesis of AITD. It remains unknown whether CCR6 polymorphisms are associated with AITD in the Chinese population which was the subject of this study
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