Association of programmed cell death 1 rs2227981 and rs2227982 polymorphism with type 1 diabetes

Abstract

Objective To evaluate the association between programmed cell death 1 (PDCD1) gene variants and type 1 diabetes mellitus (T1DM). Methods A case-control study was conducted in 585 T1DM patients from August 2014 to December 2016 in the Department of Endocrinology of the First Affiliated Hospital of Nanjing Medical University and 761 healthy controls in the same period in this region. PDCD1 rs2227981 and rs2227982 genotypes were analyzed by SNaPshot and the association of rs2227981 and rs2227982 locus genotype and allele frequency distribution with T1DM susceptibility was analyzed. Results Our study indicated that the frequency of CC, CT and TT genotype of rs2227981 in T1DM patients were 50.6%, 40.0% and 9.4% respectively and 56.6%, 37.2% and 6.3% respectively in healthy subjects. PDCD1 rs2227981 polymorphism was significantly associated with T1DM (OR=1.25, 95%CI: 1.06-1.48, P=0.01). Allelic gene C and T frequency were 70.6% and 29.4% in T1DM group, and 75.1% and 24.8% in control group, the T allele increased the risk of T1DM (OR=1.26, 95%CI: 1.06-1.49, P=0.009). The frequency of TT, TC and CC genotype of rs2227982 in T1DM patients were 20.2%, 51.8% and 28% respectively and 25.8%, 49% and 25.2% respectively in healthy subjects. PDCD1 rs2227982 polymorphism was also associated with T1DM (OR=1.18, 95%CI: 1.02-1.38, P=0.031). Allelic gene T and C frequency were 46.1% and 53.9% in T1DM group, and 50.3% and 49.7% in control group, the C allele increased the risk of T1DM (OR=1.15, 95%CI: 1.01-1.30, P=0.028). Conclusion The results indicate that PDCD1 rs2227981 and rs2227982 polymorphism are associated with increased risk of T1DM. Key words: Diabetes mellitus, type 1; Programmed cell death 1; Polymorphism