The association of PDE8B (rs4704397) and FOXE1 (rs1867277) gene polymorphisms with Congenital hypothyroidism.

Congenital hypothyroidism is one of the most common endocrine diseases that occur as a result of the inactivity of the thyroid gland and, can lead to impaired mental and physical development. The thyroid hormone is essential for the normal development of the nervous system. The aim of this study was to investigate the relationship between FOXE1 and PDE8B polymorphism in patients with congenital hypothyroidism. FOXE1 and PDE8B polymorphism were analyzed in 100 blood samples as control and case groups via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and AS-PCR. Blood samples were taken from healthy people and patients, which included 50 patients and 50 control samples. The results of genotype comparison in this study showed no statistical difference between case and control samples. The following studies confirm that according to calculation of OR (OR >1) and CI (the least CI 95% was less than one), there was no significant correlation between the two groups of healthy subjects and patients for rs4704397 polymorphism in PDE8B and rs1867277 polymorphism in FOXE1 with the incidence of congenital hypothyroidism in the population. This study shows that rs1867277 polymorphism of FOXE1 and rs4704397 of PDE8B were not associated with congenital hypothyroidism and are not endorsed as a risk factor for the disease.