title: [Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, P. R. China. Email: lrlz1989@cd120.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Yang
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Yajiao
authors.initials: Y
authors.lastname: Li
authors.forename: Kai
authors.initials: K
authors.lastname: Fu
authors.forename: Qiu
authors.initials: Q
authors.lastname: Xie
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Li
authors.initials: L
authors.lastname: Rao
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000208:ethnology* / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D055815:Young Adult
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor