Ahmed Hanan S, Nsrallah Ayman A M, Abdel-Fatah Azza H, Mahmoud Amira A, Fikry Abeer A
Clinical Pathology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Internal Medicine Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Endocr Metab Immune Disord Drug Targets. 2021;21(4):734-742. doi: 10.2174/1871530320666200715101907.
Thyroid peroxidase (TPO) gene mutation leads to a change in enzyme built structure resulting in the anti-TPO autoantibodies production that may cause thyroid destruction.
To evaluate the association of three single nucleotide polymorphisms (SNPs) of the TPO gene and anti-TPO levels in Egyptian patients with autoimmune hypothyroidism and correlate them with the disease severity.
Two hundred patients with newly discovered autoimmune hypothyroidism were included in the study (100 with subclinical hypothyroidism and 100 of them with overt hypothyroidism) and 100 healthy individuals as a control group were genotyped by PCR-REFLP.
The TT genotype of rs2071400 C/T and the T allele were significantly more frequent in patients with subclinical hypothyroidism and overt hypothyroidism than in the control group. But there were no significant differences in the TT genotype and T allele between subclinical and overt hypothyroidism patients. As regards TPO rs732609 A/C polymorphism, the CC genotype of rs732609 A/C and the C allele were significantly increased in patients with subclinical hypothyroidism and overt hypothyroidism than in controls. There was a significant difference in the CC genotype and C allele between subclinical and overt hypothyroidism patients. Concerning TPO rs1126797 C/T polymorphism, there were no significant differences of genotype or allele frequencies between patients groups and control group.
We found an association of rs2071400 C/T and rs732609A/C polymorphisms with autoimmune hypothyroidism and correlated anti-TPO levels with different genotypes in hypothyroid patients. Also, we found an association of rs732609A/C polymorphism with the disease severity.
甲状腺过氧化物酶（TPO）基因突变导致酶结构改变，进而产生抗TPO自身抗体，可能导致甲状腺破坏。
评估埃及自身免疫性甲状腺功能减退患者中TPO基因的三个单核苷酸多态性（SNP）与抗TPO水平的关联，并将它们与疾病严重程度相关联。
本研究纳入200例新发现的自身免疫性甲状腺功能减退患者（100例亚临床甲状腺功能减退患者和100例显性甲状腺功能减退患者），并以100名健康个体作为对照组，通过聚合酶链反应-限制性片段长度多态性（PCR-REFLP）进行基因分型。
亚临床甲状腺功能减退和显性甲状腺功能减退患者中rs2071400 C/T的TT基因型和T等位基因频率显著高于对照组。但亚临床和显性甲状腺功能减退患者之间的TT基因型和T等位基因无显著差异。关于TPO rs732609 A/C多态性，亚临床甲状腺功能减退和显性甲状腺功能减退患者中rs732609 A/C的CC基因型和C等位基因频率显著高于对照组。亚临床和显性甲状腺功能减退患者之间的CC基因型和C等位基因存在显著差异。关于TPO rs1126797 C/T多态性，患者组和对照组之间的基因型或等位基因频率无显著差异。
我们发现rs2071400 C/T和rs732609A/C多态性与自身免疫性甲状腺功能减退相关，并将甲状腺功能减退患者的抗TPO水平与不同基因型相关联。此外，我们发现rs732609A/C多态性与疾病严重程度相关。
