| Summary: | Gestational diabetes mellitus (GDM) is carbohydrate intolerance that occurs during pregnancy. This disease may lead to various maternal and neonatal complications; therefore, early diagnosis is very important. Because of the similarity in pathogenesis of type 2 diabetes and GDM, the genetic variants associated with type 2 diabetes are commonly investigated in GDM. The aim of the present study was to examine the associations between the polymorphisms in the <i>ADCY5</i> (rs11708067, rs2877716), <i>CAPN10</i> (rs2975760, rs3792267), and <i>JAZF1</i> (rs864745) genes and GDM as well as to determine the expression of these genes in the placenta. This study included 272 pregnant women with GDM and 348 pregnant women with normal glucose tolerance. The diagnosis of GDM was based on a 75 g oral glucose tolerance test (OGTT) at 24–28 weeks gestation, according to International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria. There were no statistically significant differences in the distribution of the <i>ADCY5</i> gene (rs11708067, rs2877716) and <i>CAPN10</i> gene (rs2975760, rs3792267) polymorphisms between pregnant women with normal carbohydrate tolerance and pregnant women with GDM. We have shown a lower frequency of <i>JAZF1</i> gene rs864745 C allele carriers among women with GDM CC + CT vs. TT (OR = 0.60, 95% CI = 0.41–0.87, <i>p</i> = 0.006), and C vs. T (OR = 0.75, 95% CI = 0.60–0.95, <i>p</i> = 0.014). In addition, <i>ADCY5</i> and <i>JAZF1</i> gene expression was statistically significantly increased in the placentas of women with GDM compared with that of healthy women. The expression of the <i>CAPN10</i> gene did not differ significantly between women with and without GDM. Our results indicate increased expression of <i>JAZF1</i> and <i>ADCY5</i> genes in the placentas of women with GDM as well as a protective effect of the C allele of the <i>JAZF1</i> rs864745 gene polymorphism on the development of GDM in pregnant women.
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