程序性细胞死亡因子1基因单核苷酸多态性与中国扩张型心肌病的相关性研究

IObjective To investigate the association between the programmed death 1 (PDCD-1) gene polymorphism and dilated cardiomyopathy (DCM). Methods Two single-nucleotide polymorphisms (SNPs) of PDCD-1 gene, rs2227981, rs2227982, were genotyped and detected in 340 DCM patients and 401 healthy controls using the analysis techniques of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The genotype frequencies and the 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<0.001，OR=2.37, 95%CI: 1.57-3.57; 58.5% vs. 47.4%, P<0.001, OR=1.58，95%CI: 1.28-1.93 respectively). No association was observed rs2227981 between the DCM patients and the controls. Conclusion rs2227982 in PDCD-1 gene has association with DCM in Chinese Han population and support PDCD-1 as a susceptibility gene for DCM. TT genotypes and T allele in rs2227982 may be associated with signi?cantly increased risk of DCM.