Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population.
- Author:
Hao YANG
1
;
Ying PENG
;
Yajiao LI
;
Kai FU
;
Qiu XIE
;
Bin ZHOU
;
Li RAO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; ethnology; genetics; Base Sequence; Cardiomyopathy, Dilated; ethnology; genetics; Case-Control Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Molecular Sequence Data; Polymorphism, Single Nucleotide; Programmed Cell Death 1 Receptor; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2014;31(3):362-366
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the association between programmed death 1 (PDCD1) gene polymorphism and dilated cardiomyopathy (DCM).
METHODSTwo 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.
RESULTSThe 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.
CONCLUSIONrs2227982 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.
