EP18.35: Association of CDKN2A/2B genes single nucleotide polymorphisms with gestational diabetes mellitus

The purpose of this study was to investigate the association between the single nucleotide polymorphism (SNP) of the cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) gene and susceptibility to gestational diabetes mellitus (GDM). The study provides a reference for in-depth research into the pathogenesis, early diagnosis, and prevention of GDM. The subjects of this case-control study were all from the Chinese Han population from Heilongjiang Province, Northeast China, including 509 pregnant women with abnormal oral glucose tolerance test (OGTT) and 488 healthy pregnant women. The CDKN2A/2B SNPs (rs10811661 and rs2383208) were genotyped by three-round multiplex PCR with next-generation sequencing, and the allele and genotype frequencies in the control and case groups were compared. The association between these SNPs and GDM susceptibility was analysed. We found that the CDKN2A/2B rs2383208 was significantly associated with GDM, and the gene frequencies, allele model, codominant model, dominant model, recessive model, and additive model were statistically significant (P = 0.001, P < 0.001, P = 0.0073, P = 0.0097, P = 0.012, P = 0.0017, respectively). Based on the correlation between CDKN2A/2B and GDM, we developed a prediction model, ROC-AUC = 0.740, 95% CI = 0.695-0.793, with a sensitivity and specificity of 75% and 64.9%, respectively. We found that the CDKN2A/2B rs2383208 was significantly associated with GDM, and the gene frequencies, allele model, codominant model, dominant model, recessive model, and additive model were statistically significant (P = 0.001, P < 0.001, P = 0.0073, P = 0.0097, P = 0.012, P = 0.0017, respectively). Based on the correlation between CDKN2A/2B and GDM, we developed a prediction model, ROC-AUC = 0.740, 95% CI = 0.695-0.793, with a sensitivity and specificity of 75% and 64.9%, respectively.