Objective: The purpose of the present study was to study the potential association of CDC2L2 variations with type 2 diabetes (T2D).
Methods: SNPs (single nucleotide polymorphisms) were extensively screened across the CDC2L2 gene by the site-specific PCR method ARMS (Amplification Refractory Mutation System). The identified novel polymorphisms were further evaluated in a Han Chinese cohort comprising of 467 patients with diabetes and 569 nondiabetic controls. In addition, 76 parent-offspring trios were also included in this association study. The case-control and TDT/sibTDT studies are applied for association analysis in this study.
Results: Seven loci (rs1059831, SNP33, rs7528782, SNP11, SNP36, rs11488590 and SNP30) were shown to be significantly associated with T2D in unrelated individuals (p < 0.05). When individuals were stratified by age, sex and body mass index (BMI), the SNP11 was shown to be strongly associated with female patients with T2D, patients whose age was over 45 years and individuals whose BMI was less than 23 (p = 0.018, 0.011 and 0.0089, respectively). However, it was not replicated in the family-based TDT/sibTDT analysis (p = 0.085, OR = 0.63 (CI 95% 0.34-1.06)).
Conclusion: Our data suggested that the CDC2L2 gene may contribute to the susceptibility of type 2 diabetes in the northern Han Chinese population, but further studies are needed to replicate these findings.