The association of PDE۸B (rs۴۷۰۴۳۹۷) and FOXE۱ (rs۱۸۶۷۲۷۷) gene polymorphisms with Congenital hypothyroidism.

Background and aim: 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 FOXE۱ and PDE۸B polymorphism in patients with congenital hypothyroidism. Methods: FOXE۱ and PDE۸B polymorphism were analyzed in ۱۰۰ 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 ۵۰ patients and ۵۰ control samples. Results: 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 >۱) and CI (the least CI ۹۵% was less than one), there was no significant correlation between the two groups of healthy subjects and patients for rs۴۷۰۴۳۹۷ polymorphism in PDE۸B and rs۱۸۶۷۲۷۷ polymorphism in FOXE۱ with the incidence of congenital hypothyroidism in the population. Conclusion: This study shows that rs۱۸۶۷۲۷۷ polymorphism of FOXE۱ and rs۴۷۰۴۳۹۷ of PDE۸B were not associated with congenital hypothyroidism and are not endorsed as a risk factor for the disease.

Keywords:

Congenital hypothyroidism , Mutation , Gene , Polymorphism , Hormone