Purpose: To evaluate whether variations in the IL1B gene could be associated with Graves' ophthalmopathy (GO) in patients with Graves' disease (GD).
Method: A case-control study including 471 Taiwan Chinese patients with GD (200 with GO and 271 without GO) as well as 160 healthy volunteers, were enrolled. We genotyped 8 single nucleotide polymorphisms (SNPs) in IL1B using an allele-specific extension and ligation assay according to the manufacturer’s instructions (Illumina).
Results: For the IL1B SNPs we examined, C allele of rs1143634 is associated with GD while T/T genotype at SNPs rs1143634 and SNP rs16944 were less associated with GD. The A/A genotype of SNPs rs3917368 and rs1143643 with strongest interaction, may increase the risk of GO (p = 0.024 and p = 0.017, respectively). Several GD susceptible and insusceptible IL1B haplotypes have been identified, and the Ht4-GCGCCTCC haplotype composed of 8 SNPs, is associated with low circulating IL1β levels, may be a protective haplotype for development of GO ((p = 0.025). Moreover, the GO-susceptible genotype associated with lower plasma IL1β concentration, implied that GO development may be beyond the IL1B polymorphisms-associated circulating IL1β elevation.
Conclusion: Our data provide IL1B polymorphisms and the association with plasma IL1β levels, GD and GO, which providing an insight that IL1B polymorphisms may be associated with development of GD and GO.
