Abstract
Graves’ disease (GD) is a common autoimmune disorder with a genetic predisposition. There is strong evidence to suggest that both Th1 and Th2 circulating cytokines are involved in the development of GD. In this study, we conducted a meta-analysis to assess the impact of seven variations of five IL-related genes on the susceptibility to GD. A total of 22 case-control studies involving 5338 GD patients and 6446 healthy controls were included. The results showed that only one SNP rs1800795 in IL-6 was significantly associated with GD in homozygous model (CC vs. GG: OR = 2.714, 95% CI = 1.047–7.039, p = 0.04), heterozygous model (CG vs. GG: OR = 1.295, 95% CI = 1.013–1.655, p = 0.039), dominant model (CC+CG vs. GG: OR = 1.418, 95% CI = 1.122–1.793, p = 0.003) and additive model (C vs. G: OR = 1.432, 95% CI = 1.087–1.886, p = 0.011).To explain the heterogeneity, we performed the subgroup analysis by ethnicity. The ethnicity stratification revealed that the association between rs1800795 and GD tended to be much stronger for Asian than European population in homozygous, dominant, recessive, and additive models. The remaining 6 SNPs in 4 genes did not show any significant association with GD in any genetic models. Together, our data support that rs1800795 within the IL-6 gene confers genetic susceptibility for GD. Future large-scale studies are required to validate the associations between IL-6 and others IL-related genes and GD.
Highlights
Graves’ disease (GD) is an autoimmune thyroid disease with a prevalence of 0.5% in the general population [1,2]
The results showed that only one single nucleotide polymorphisms (SNPs) rs1800795 in IL-6 was significantly associated with GD in homozygous model (CC vs. GG: odds ratio (OR) = 2.714, 95% confidence interval (CI) = 1.047–7.039, p = 0.04), heterozygous model (CG vs. GG: OR = 1.295, 95% CI = 1.013–1.655, p = 0.039), dominant model (CC+CG vs. GG: OR = 1.418, 95% CI = 1.122–1.793, p = 0.003) and additive model (C vs. G: OR = 1.432, 95% CI = 1.087–1.886, p = 0.011).To explain the heterogeneity, we performed the subgroup analysis by ethnicity
We examined the association between variations in IL-related genes and GD
Summary
Graves’ disease (GD) is an autoimmune thyroid disease with a prevalence of 0.5% in the general population [1,2]. Large familial clustering and twin studies have proposed that about 79% of the risk for developing GD may be related to genetic factors, whereas 21% of them were related to the environmental and endogenous factors [3,4]. Genome-wide association studies (GWASs) have reported loci for GD on chromosomal region 5q31-q33 in Asian populations [5]. This region includes the T helper 1 (Th1) and Th2 gene cluster, which encodes certain cytokines, including the inflammation-associated proteins interleukin (IL)-4, IL-12, and IL-13.
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