The polymorphisms in the thyroid peroxidase gene were associated with the development of autoimmune thyroid disease and the serum levels of anti-thyroid peroxidase antibody.
Graves' disease (GD) and Hashimoto's disease (HD) are well known autoimmune thyroid diseases (AITDs), and the severity and intractability of AITDs varies among patients. Thyroid peroxidase (TPO) is a thyroid-specific antigen. The levels of anti-thyroid peroxidase antibody (TPOAb) were higher in patients with HD and may be associated with thyroid destruction. In this study, we genotyped eight single nucleotide polymorphisms (SNPs) in the TPO gene to clarify the association of TPO gene polymorphisms with the development, severity and intractability of AITD. We genotyped TPO rs2071399G/A, rs2071400C/T, rs2071402A/G, rs2071403A/G, rs1126799C/T, rs1126797T/C, rs732609A/C, and rs2048722A/G polymorphisms in 145 patients with GD, 147 patients with HD and 92 healthy controls by PCR-RFLP method. TPO rs2071400 T carriers (CT + TT genotypes) were more frequent in AITD, GD, and HD patients (p=0.0079, 0.0041, and 0.0488, respectively). The TPO rs2071403 GG genotype was more frequent in AITD, GD, and HD patients (p=0.0227, 0.0465, and 0.0305, respectively). There was no significant association between the SNPs and the prognosis of AITD. Serum levels of TPOAb were significantly higher in AITD patients with TPO rs2071400 T carriers (CT + TT genotypes) than in those with the CC genotype (p=0.0295), and were also significantly higher in AITD patients with TPO rs2048722 T carriers (CT + TT genotypes) than in those with the CC genotype (p=0.0056). In conclusion, TPO rs2071400 and rs2071403 polymorphisms were associated with the development of HD and GD, but not with the prognosis. Moreover, TPO rs2071400 and rs2048722 polymorphisms were associated with the serum levels of TPOAb.
['Tomari|Saki|S|', 'Watanabe|Mikio|M|', 'Inoue|Naoya|N|', 'Mizuma|Tomoyo|T|', 'Yamanaka|Chika|C|', 'Hidaka|Yoh|Y|', 'Iwatani|Yoshinori|Y|']
D000328:Adult D000368:Aged D000483:Alleles D001323:Autoantibodies D001324:Autoantigens D005260:Female D005787:Gene Frequency D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D005820:Genetic Testing D006111:Graves Disease D050031:Hashimoto Disease D006579:Heterozygote D006801:Humans D007453:Iodide Peroxidase D033862:Iron-Binding Proteins D007564:Japan D008297:Male D008875:Middle Aged D020641:Polymorphism, Single Nucleotide D011379:Prognosis D012720:Severity of Illness Index D013961:Thyroid Gland D055815:Young Adult
Polymorphism Anti-thyroid peroxidase antibody Severity Graves’ disease Hashimoto’s disease