Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population

OBJECTIVE: To investigate the association between programmed death 1 (PDCD1) gene polymorphism and dilated cardiomyopathy (DCM). METHODS: Two single nucleotide polymorphisms (SNPs) of the PDCD1 gene, rs2227981, rs2227982, were genotyped and detected in 340 DCM patients and 401 healthy controls using the method of polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP). The genotype frequencies and allele frequencies of SNPs were compared between DCM patients and normal controls. RESULTS: The genotype and allele distributions of rs2227982 were significantly different between the patients with DCM and the controls. The frequencies of TT genotype and T allele of rs2227982 were higher in the patients than those in the controls (35.3% vs. 23.4%, P < 0.01, OR=2.37, 95%CI: 1.57-3.57; 58.5% vs. 47.4%, P < 0.01, OR=1.58, 95%CI: 1.28-1.93, respectively). No association was observed for rs2227981 between the DCM patients and the controls. CONCLUSION: rs2227982 in PDCD1 gene is association with DCM in Chinese Han population, which supported PDCD1 as a susceptibility gene for DCM. TT genotypes and T allele in rs2227982 may be associated with significantly increased risk of DCM.