Association of IL-1β, NLRP3, and COX-2 Gene Polymorphisms with Autoimmune Thyroid Disease Risk and Clinical Features in the Iranian Population

Background. Grave's disease (GD) and Hashimoto's thyroiditis (HT) are autoimmune diseases of the thyroid gland in which genetic predisposition plays a major role in their development. Currently, the role of NLRP3 inflammasome and COX-2 has been documented in many autoimmune diseases. The purpose of the study is to delineate the impact of IL-1 beta (rs1143634), NLRP3 (rs3806265), and COX-2 (rs2745557) gene polymorphisms in the development of GD and HT. Methods. A total of 256 newly diagnosed patients with autoimmune thyroid disease (135 patients with HT and 121 GD patients) as case groups and 145 controls were included in the study. Results. Recessive and overdominant models showed a significant association between IL-1 beta rs1143634 SNP and HT development risk. The frequency of TT genotype and T allele of IL-1 beta rs1143634 SNP in the control group was significantly higher than the GD group. There was no significant association between NLRP3 rs3806265 polymorphism and HT and GD development. The frequency of GA genotype of COX-2 (rs2745557) in the control group was significantly higher than that in the HT group. There was no significant association between COX-2 rs2745557 genotypic and allelic distribution and GD development risk. The results revealed a significant relationship between some clinical features of HT and GD groups and SNPs studied. Conclusion. The results manifest the significant impact of IL-1 beta rs1143634 and COX-2 (rs2745557) SNPs and HT development and IL-1 beta rs1143634 SNP on GD occurrence risk. Furthermore, a significant relationship was observed between some clinical features of HT and GD groups and studied SNPs.

Automated summary

The study found significant associations between IL-1 beta rs1143634 gene SNP and HT development risk, as well as COX-2 rs2745557 gene SNP and HT development. It also showed that IL-1 beta rs1143634 SNP plays a role in GD risk, while there was no significant association with NLRP3 rs3806265 gene polymorphism in the development of HT and GD.