Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 362-366, 2014.
Article
in Zh
| WPRIM
| ID: wpr-291771
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between programmed death 1 (PDCD1) gene polymorphism and dilated cardiomyopathy (DCM).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Molecular Sequence Data
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Base Sequence
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Cardiomyopathy, Dilated
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Case-Control Studies
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Genetic Predisposition to Disease
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Polymorphism, Single Nucleotide
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Asian People
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Ethnology
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Programmed Cell Death 1 Receptor
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Gene Frequency
Type of study:
Observational_studies
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Risk_factors_studies
Limits:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article