Association of Thyroid Peroxidase Gene polymorphisms and serum anti-TPO levels in Egyptian Patients with Autoimmune Hypothyroidism
Background: Thyroid peroxidase (TPO) gene mutation leads to change in enzyme built structure result in the anti-TPO autoantibodies production that may cause thyroid destruction. Aim: 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. Methods: Two hundred patients with newly discovered autoimmune hypothyroidism were included in the study (100 with subclinical hypothyroidism and 100 of them with overt hypothyroidism) and100 healthy individuals as a control group were genotyped by PCR-REFLP. Results: 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 control group. But there were no significant difference in the TT genotype and T allele between subclinical and overt hypothyroidism patient. 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 significant difference in the CC genotype and C allele between subclinical and overt hypothyroidism patients. Conclusion: 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.