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Polymorphisms of presenilin-1 gene associate with dilated cardiomyopathy susceptibility

Hui Li1, Yu Chen, Bin Zhou

  • 1Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

Molecular and Cellular Biochemistry
|June 10, 2011
PubMed

Insights

Genetic variations in the presenilin-1 gene are linked to dilated cardiomyopathy (DCM). Specifically, the A allele at SNP rs177415 may increase the risk of developing DCM, a common cause of heart failure.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Disease Pathogenesis

Background:

  • Dilated cardiomyopathy (DCM) is a major cause of heart failure and transplantation, characterized by ventricular enlargement and dysfunction.
  • Potential pathogenic mechanisms include genetic predisposition, viral infections, autoimmunity, and apoptosis.
  • The presenilin-1 gene is implicated in apoptosis and cardiac development, suggesting a potential role in DCM.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the presenilin-1 gene and the risk of dilated cardiomyopathy.
  • To examine the specific roles of presenilin-1 SNPs rs1800844 and rs177415 in DCM susceptibility.

Main Methods:

  • Genotyping of two presenilin-1 SNPs (rs1800844 and rs177415) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Comparison of SNP and allele frequencies between 282 DCM patients and 306 healthy controls.
  • Statistical analysis using unconditional logistic regression, adjusting for covariates like diabetes, hyperlipidemia, smoking, and gender.

Main Results:

  • A significant increase in the frequency of AA and AC genotypes and the A allele at SNP rs177415 was observed in DCM patients compared to controls.
  • No significant differences in genotype or allele frequencies for SNP rs1800844 were found between the groups.
  • Logistic regression confirmed an association between SNP rs177415 and DCM susceptibility (adjusted OR = 1.300, P = 0.039).

Conclusions:

  • This study provides the first evidence linking presenilin-1 gene SNPs to human dilated cardiomyopathy.
  • The A allele at SNP rs177415 in the presenilin-1 gene appears to be associated with an increased risk of DCM.
  • These findings highlight the potential role of presenilin-1 in the genetic predisposition to DCM.

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