<i>HNF1B</i>, <i>TSPAN8</i> and <i>NOTCH2</i> gene polymorphisms in women with gestational diabetes

<p><b>Purpose:</b> To investigate genes involved in pancreatic beta cell function, insulin production and glucose metabolism that may predispose to gestational diabetes mellitus (GDM).</p> <p><b>Methods:</b> 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: <i>HNF1B</i> rs4430796, <i>TSPAN8</i> rs7961581 and <i>NOTCH2</i> rs10923931. A <i>p</i> value of <.05 was considered to indicate a statistically significant result.</p> <p><b>Results:</b> 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, <i>p</i> = .042; G versus A, OR: 1.39, 95% CI: 1.06–1.83, <i>p</i> = .018), whereas there were no statistically significant differences in the distributions of <i>TSPAN8</i> rs7961581 and <i>NOTCH2</i> 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 <i>HNF1B</i> rs4430796 G alleles were independent significant predictors of a higher risk of GDM.</p> <p><b>Conclusions:</b> The results of this study suggest that the <i>HNF1B</i> gene rs4430796 G allele may be associated with increased risk of GDM.</p>