Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Abstract

Autoimmune thyroid disease (AITD) comprises Graves' disease (GD) and Hashimoto's thyroiditis (HT). IL37 has been recently proved to be a natural suppressor for innate immunity and acquired immunity. Therefore, this study was conducted to identify the association of IL37 genetic polymorphisms with AITD in Chinese Han population. Polymorphisms of rs3811046/rs3811047/rs2723176/rs272186 in the IL37 gene were assessed in a case-control study comprising 701 GD patients, 301 HT patients and 939 controls. Genetic variants were genotyped by multiplex polymerase chain reaction and ligase detection reaction. The frequencies of the minor allele A of rs2723176 and A of rs2723186 were significantly lower in the GD patients than in the controls (PZ0.014, ORZ0.774; PZ0.014, ORZ0.777). After gender stratification, the rs3811046 G allele and the rs3811047/rs2723186 A allele were both significantly associated with a decreased risk of GD in female patients (PZ0.030, ORZ0.777; PZ0.023, ORZ0.774; PZ0.029, ORZ0.761). However, none of the four single nucleotide polymorphisms of IL37 gene showed any significant association with HT. Moreover, haplotype analysis revealed the GCG haplotype conferred increased risk for GD as a whole and in female GD patients (ORZ1.213; ORZ1.320). The ACG haplotype was associated with an increased risk of HT as a whole (ORZ1.567) and in male GD patients (ORZ1.820). In contrast, the AAA haplotype showed a protective role for GD as a whole (ORZ0.760) and in female GD patients (ORZ0.765). Our study strongly supports that the IL37 gene variants are associated with the susceptibility to AITD.

Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 Polymorphisms in the Human RORγT Gene Promoter Region

“…This might be considered a potential protective factor that decreases the chances for the development of autoimmunological disorders that depend on Th17 cells. This would be similar to the rs3811046 and rs3811047/rs2723186 polymorphisms in the IL37 gene [40]. This is of special interest, as one of these SNPs, namely, rs116171003, (Table 1) occurs in the investigated Polish population with significant (3.42%) frequency.…”

IL-37 Confers Protection against Mycobacterial Infection Involving Suppressing Inflammation and Modulating T Cell Activation

“…Previous clinical studies have implicated that IL-37 SNP rs3811047 associated with the susceptibility to gastric cardiac adenocarcinoma [22], autoimmune diseases including autoimmune thyroid disease (AITD) [23], ankylosing spondylitis (AS) [24] and disease activity of rheumatoid arthritis (RA) [25,26]. The variant rs3811047 is located at the exon of this gene, while the G>A allele leads to a mutation from alanine to threonine and confers resistance to Mtb infection.…”

Association of IL‐37 gene polymorphisms with susceptibility to tuberculosis in Saudi subjects

“…Amplification by PCR was performed on eluted genomic DNA samples that had been frozen at À20°C. Genotyping for rs3811046, rs3811047, rs2723176, rs2723186 and rs2723187 was conducted by PCR as previously described in detail by Yan et al (33).…”

“…Clinical studies have demonstrated that IL-37 gene SNP rs3811047 G>A is associated with susceptibility to rheumatoid arthritis (31), ankylosing spondylitis (10) and gastric adenocarcinoma (32). Recently, Yan et al (33) demonstrated that the IL-37 allele A of rs2723176 and rs2723186 is associated with a decreased risk of GD. Moreover, the IL-37 allele G of rs3811046 and A allele of rs3811047/ rs2723186 is associated with a decreased risk of GD in female patients.…”