A case-control study on the correlation of multiple single nucleotide polymorphisms of TPO and Tg genes with Hashimoto′s thyroiditis in Xinjiang / 中华内分泌代谢杂志

ABSTRACT

Objective:To investigate the correlation of multiple single nucleotide polymorphisms(SNPs)of thyroid peroxidase(TPO)and thyroglobulin(Tg)genes with Hashimoto′s thyroiditis(HT).Methods:Based on the gene mutation sites obtained from the second-generation sequencing of the target region of the previous autoimmune thyroid disease cases in our research group, the representative sites were selected for confirming in the expanded samples. A total of 301 Uyghur patients with HT and 383 controls were selected to determine the genotypes of representative SNPs(rs4927631, rs2071400, rs2071403, rs2403883, rs4236899, rs4736434, rs180195)using MassArry Sequenom platform. Correlation analysis and linkage analysis were performed with SPSS 21.0 software.Results:(1)The SNP rs4927631 gene frequency and genotype of TPO gene were significantly different between the case and control groups. The SNP rs2071403 gene frequency of TPO gene revealed statistically different between the case and control groups.(2)With analysis under different genetic models, the rs4927631 and rs2071403 of TPO gene were associated with HT under the additive model(AA/GG)and dominant model( P<0.05). The rs180195 of Tg gene was associated with HT in a recessive model( P<0.05). (3)All subjects were grouped according to the dominant genotype(AA+ GA)and recessive genotype(GG)of the TPO gene rs2071403, and mean age, gender distribution, proportion of those with higher TSH, and lower FT 4 were compared between two groups. Only thyroid peroxidase antibody(TPOAb) level displayed a statistical difference( P<0.05). This was the case for the patients with HT after grouped according to the above method( P<0.05). Conclusion:The rs4927631 and rs2071403 loci of TPO gene are associated with the pathogenesis of HT in Xinjiang Uygur.