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
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- Tomari Saki
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Watanabe Mikio
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Inoue Naoya
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan Laboratory for Clinical Investigation, Osaka University Hospital, Suita 565-0871, Japan
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- Mizuma Tomoyo
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Yamanaka Chika
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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- Hidaka Yoh
- Laboratory for Clinical Investigation, Osaka University Hospital, Suita 565-0871, Japan
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- Iwatani Yoshinori
- Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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Abstract
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.
Journal
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- Endocrine Journal
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Endocrine Journal 64 (10), 1025-1032, 2017
The Japan Endocrine Society