Association of PTPN22 Haplotypes with Hashimotos Thyroiditis in Population of Novosibirsk

The single nucleotide polymorphism (SNP) C1858T within the PTPN22 gene was recently associated with autoimmune thyroid disease (AITD). The purpose of this study was to examine the joint association of this polymorphism with the AITD. Materials and methods: In this association study 358 subjects were genotyped for the C1858T polymorphism PTPN22 gene. The study population included 215 patients with both autoimmune thyroid diseases (AITD): 108 Novosibirsk patients with Graves' disease (GD) and 107 Hashimotos thyroiditis (HT), and 143 healthy controls. Results. No differences in genotype frequencies were observed between GD and controls for the C1858T polymorphism PTPN22 gene in population of Novosibirsk. The PTPN22 1858 T-allele frequency was strongly increased in patients with HT 24,3% versus controls 12.9%; χ2 = 10.8, (р = 0.001, OR = 2.16, 95% CI 1.36–3.44). The T-allele frequency was 24.7% in women with HT and 12,1% in the control group; χ2 = 7.62, р = 0.006. The T-allele were associated with the increased risk for HT in women (odds ratio OR = 2.39 95% CI 1.27-4.89). Conclusion: The PTPN22 gene is a joint susceptibility locus for HT.