HNF1B, TSPAN8 and NOTCH2 gene polymorphisms in women with gestational diabetes

Purpose: To investigate genes involved in pancreatic beta cell function, insulin production and glucose metabolism that may predispose to gestational diabetes mellitus (GDM).

Methods: The study group consisted of 204 women with GDM and 207 women with normal glucose tolerance (NGT). The following polymorphisms were genotyped for each patient: HNF1B rs4430796, TSPAN8 rs7961581 and NOTCH2 rs10923931. A p value of <.05 was considered to indicate a statistically significant result.

Results: There was a statistically significant increase in the frequency of HNF1B rs4430796 G allele among pregnant women with GDM (GG+AG versus AA, OR: 1.55, 95% CI: 1.01–2.36, p = .042; G versus A, OR: 1.39, 95% CI: 1.06–1.83, p = .018), whereas there were no statistically significant differences in the distributions of TSPAN8 rs7961581 and NOTCH2 rs10923931 genotypes and alleles between women with GDM and healthy pregnant women. In the multivariate logistic regression analysis, older age, higher BMI before pregnancy and a higher number of HNF1B rs4430796 G alleles were independent significant predictors of a higher risk of GDM.

Conclusions: The results of this study suggest that the HNF1B gene rs4430796 G allele may be associated with increased risk of GDM.