TSHβX1 splice variant expression and D2 Thr92Ala polymorphism analysis in pregnant women with thyroid diseases

Abstract

Thyroid diseases are pathologies that frequently affect pregnant women. The objective was to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in pregnant women. It was a comparative, prospective clinical, and cross-sectional study. Ninety-two pregnant patients, of which 38 were normothyroid and 54 had thyroid disease, were included. The expression of the TSHβX1 splice variant was quantified by real-time PCR and the D2 Thr92Ala (rs225014 CT) polymorphism was genotyped using TaqMan probes. The TSHβX1 splice variant was detected in both groups without significant differences in the relative expression. The T allele was associated with the thyroid dysfunction (OR = 2.117, p = 0.0339). We confirmed the presence of the predicted TSHβX1, and our results suggest that 92Thr (rs225017T) allele is a risk factor to thyroid dysfunction in pregnant women.