Related Experiment Video

Updated: Oct 11, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.8K

Analysis of SIRT4 gene single-nucleotide polymorphisms in a Han Chinese population with dilated cardiomyopathy

Yue Zhong1, Can Shen1, Ying Peng1

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

Biomarkers in Medicine
|December 3, 2021
PubMed

Insights

Genetic variations in the SIRT4 gene are linked to increased risk and poorer outcomes for dilated cardiomyopathy (DCM) in Chinese individuals. Specific SIRT4 polymorphisms influence both disease susceptibility and patient prognosis.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a significant cause of heart failure.
  • The genetic underpinnings of DCM susceptibility and progression require further elucidation.
  • Sirtuin 4 (SIRT4) is implicated in cellular metabolism and stress response, potentially relevant to cardiac health.

Purpose of the Study:

  • To investigate the association between SIRT4 gene polymorphisms and the susceptibility to DCM.
  • To determine if SIRT4 gene polymorphisms correlate with the prognosis of DCM patients.
  • To analyze these associations within a Chinese population.

Main Methods:

  • Case-control study design.
  • Genotyping of three tag single-nucleotide polymorphisms (SNPs) in the SIRT4 gene (rs2261612, rs2522138, rs16950058).
  • Statistical analysis of genotype frequencies and clinical outcomes in 373 DCM patients and 369 controls.

Main Results:

  • The G allele of rs2261612 was significantly associated with increased DCM susceptibility across multiple genetic models (p < 0.01).
  • Specific genotypes (AG/GG, AG) of rs2261612 were linked to a poorer DCM prognosis, independent of key clinical factors like LVEF and CRT (p < 0.001).
  • No significant associations were found for rs2522138 and rs16950058 with DCM susceptibility or prognosis.

Conclusions:

  • SIRT4 gene polymorphisms are associated with both the susceptibility and prognosis of dilated cardiomyopathy in the studied Chinese population.
  • The rs2261612 polymorphism in SIRT4 may serve as a potential genetic marker for DCM risk and outcome prediction.
  • Further research is warranted to explore the functional mechanisms underlying SIRT4's role in DCM pathogenesis.

Keywords:
SIRT4dilated cardiomyopathypolymorphismsurvival analysis

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.1K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.2K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.7K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
87
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
98
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
61
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.1K