Association of CDK6 gene polymorphisms with Behcet's disease in a Han Chinese population

Cyclin-dependent kinases 4/6 (CDK4/6) and D1-type cyclins (CCND1) can regulate the pro-inflammatory functions of various cytokines during the inflammatory response. This study investigated the association between CDK4/6-CCND1 variants and susceptibility in patients with Behcet's disease (BD). This case-control study enrolled 542 patients with BD and 754 healthy controls. Fourteen tagged single nucleotide polymorphisms (tag SNPs) of the CDK4/6-CCND1 gene were genotyped using the Sequenom MassARRAY system and iPLEX® Pro assay. The results indicated that the frequency of the CDK6 rs2282983 TT genotype was higher in the BD group than the control group (Pc = 0.040, OR = 1.408, 95% CI = 1.124–1.765), and CDK6 rs2282983 CT and rs42034 AG were negatively associated with BD (Pc = 3.647 × 10−4, OR = 0.598, 95% CI = 0.471–0.758; Pc = 0.039, OR = 0.626, 95% CI = 0.459–0.852, respectively). Furthermore, statistical analysis showed that CDK6 rs2282983 TT and CT genotypes were significantly associated with skin lesions in patients with BD (Pc = 0.042, OR = 1.436, 95% CI = 1.130–1.824; Pc = 0.001, OR = 0.594, 95% CI = 0.461–0.764, respectively). This study suggests that the CDK6 loci rs2282983 and rs42034 might confer genetic susceptibility to BD in a Han Chinese population, which could provide new insights into the pathogenesis of BD. •This study was to investigate the association of the selected tag-SNPs in CDK4, CDK6 and CCND1 gene polymorphisms with BD.•A case-control study in 542 patients with BD and 754 healthy controls.•A higher frequencies of the TT genotype of CDK6 rs2282983 in BD patients.•CDK6 rs2282983 CT genotype and rs42034 AG genotype were negatively associated with BD patients.•The first to investigate concurrently the association of CDK4, CDK6 and CCND1 with BD.