Endocrine Abstracts

JOINT325

Introduction: Nowadays various pathogenetic subtypes of gestational diabetes mellitus (GDM) are distinguished: with predominant β-cell dysfunction and with prevailing insulin resistance (IR). Currently, many works are devoted to the study of polymorphisms of various genes that can influence the development of GDM. However, no attempt has yet been made to study the genetic markers of various subtypes of GDM, which could make a significant contribution to both the diagnosis and probable prevention of carbohydrate metabolism disorders during pregnancy.

Objective: To study the association of polymorphic markers rs7903146 of the TCF7L2 gene, rs10830963 of the MTNR1B gene and rs1801282 of the PPARG Pro12Ala gene with the presence of various subtypes of GDM in pregnant patients.

Materials and methods: 130 pregnant women were divided according to the results of the Matsuda index: group I-45 pregnant women with GDM and β-cell dysfunction, group II-43 pregnant women with GDM and IR, group III-42 pregnant women without GDM (control). Single nucleotide polymorphisms rs7903146, rs10830963, rs1801282 were determined by allele-specific PCR. The differences were recognized as statistically significant at the level of P<0.05. Calculations were performed in R (version 3.2, R Foundation for Statistical Computing, Vienna, Austria).

Results and discussion: In the course of this study, it was found that some polymorphic markers were associated with a reduced risk of having different subtypes of GDM. Thus, the genotype of T/T polymorphic markers rs7903146 of the TCF7L2 gene is associated with low risk and GDM with predominant IR (OR=0.06, 95% CI: 0.004–1.18, P = 0.045), and with β-cell dysfunction (OR=0.06, 95% CI: 0.003–1.13, P = 0.04). At the same time, the genotype of C/C polymorphic markers rs10830963 of the MTNR1B gene was associated with a reduced risk of only the GDM subtype with β-cell dysfunction (OR=0.41, 95% CI: 0.174–0.98, P = 0.049). On the other hand, we found polymorphic markers that, on the contrary, were associated with an increased risk of having GDM with predominant IR. It turned out to be the genotype of T/C polymorphic markers rs7903146 of the TCF7L2 gene (OR=2.53, 95% CI: 01.048–6.09, P = 0.049).

Conclusion: The results obtained indicate the potential role of the T/C genotype of polymorphic markers rs7903146 of the TCF7L2 gene in the development of the GDM subtype with predominant IR. The presented data certainly require further study to determine, first, the criteria for the diagnosis of various subtypes of GDM, depending on the mechanisms underlying the pathogenesis of carbohydrate metabolism disorders.