The correlation between transcription factor 7-like 2 gene polymorphisms and susceptibility of gestational diabetes mellitus in the population of central China: A case-control study.

Objective: To investigate the correlation between transcription factor 7-like 2 (TCF7L2) gene polymorphisms and gestational diabetes mellitus (GDM) risk in the central Chinese population.

Methods: This case-control study examined the association of seven gene single-nucleotide polymorphisms (SNPs) (rs11196218, rs4506565, rs7895340, rs7901695, rs11196205, rs12243326, and rs290487) with GDM risk in the central Chinese population (843 GDM and 877 controls). The clinical information and blood samples were collected by trained interviewers and nurses. Genotyping of SNPs was conducted on the Sequenom MassARRAY platform. Statistical analyses including -test, ANOVA, chi-square test, Fisher's exact test, and logistic regression were performed.

Results: Differences in age, pre-pregnant body mass index (BMI), and family history of type 2 diabetes mellitus (T2DM) between the case and control groups were significant ( < 0.05). Compared with the wild-type genotype, pregnant women with genotypes of rs4506565-AT ( = 1.89, 95%: 1.18-3.02), rs7895340 GA ( = 1.93, 95%: 1.06-3.54), rs7901695-TC ( = 1.79, 95%: 1.11-2.88), and rs11196205-GC ( = 2.15, 95%: 1.16-3.98) had a significantly higher risk of GDM, adjusted by age, pre-pregnant BMI, and family history of T2DM. Functional annotation showed that all these four SNPs fell in the functional elements of human pancreatic islets. Further cumulative effects analysis concluded that when participants carried all these four risk genotypes, the risk of GDM was 3.51 times ( = 3.51, 95%: 1.38-8.90) than that of those without any risk genotypes.

Conclusions: The findings of this study suggested that rs4506565, rs7895340, rs7901695, and rs11196205 were the genetic susceptibility SNPs of GDM in the central Chinese population. Further studies are needed to validate our findings and clarify the underlying mechanisms.