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.