Related Experiment Video
Updated: Oct 12, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Association between CDK8 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population
Ran Zhang1, Yue Zhong1, Si-Yu Long2
1Department of Cardiology, West China Hospital of Sichuan University, Chengdu, China.
Insights
This study found that specific polymorphisms in the Cyclin-dependent-kinase 8 (CDK8) gene are associated with an increased risk of dilated cardiomyopathy (DCM) and poorer prognosis in the Chinese Han population.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a common heart condition with unclear pathogenesis.
- The Cyclin-dependent-kinase 8 (CDK8) gene plays a role in transcription and signaling pathways.
Purpose of the Study:
- To investigate the association between CDK8 gene polymorphisms and DCM susceptibility.
- To explore the impact of CDK8 gene polymorphisms on DCM prognosis in the Chinese Han population.
Main Methods:
- Genotyping of two CDK8 single nucleotide polymorphisms (SNPs): rs17083838 and rs7992670 using PCR-RFLP.
- Analysis of 341 DCM patients and 381 healthy controls.
- Survival analysis using Kaplan-Meier curves and Cox regression.
Main Results:
- Increased frequencies of allele A for both rs17083838 and rs7992670 in DCM patients compared to controls.
- CDK8 polymorphisms were significantly associated with DCM susceptibility.
- Specific genotypes of rs17083838 and rs7992670 correlated with poor prognosis in DCM patients, even after adjusting for clinical factors.
Conclusions:
- CDK8 gene polymorphisms are potentially linked to both the susceptibility and prognosis of DCM.
- This is the first study to demonstrate this association in the Chinese Han population.
Background:
Dilated cardiomyopathy (DCM) is one of the most common types of cardiomyopathies. Various genes have been verified to be related to DCM, but the pathogenesis remains unclear. Cyclin-dependent-kinase 8 (CDK8), encoded by the CDK8 gene, is a transcriptional factor that regulates the phosphorylation of RNA polymerase II. It plays an important role in the transcription process and different signaling pathways. This study aimed to investigate the potential role of CDK8 gene polymorphisms in DCM susceptibility and prognosis in a Chinese Han population.
Methods:
Two single nucleotide polymorphisms (SNPs) of CDK8, rs17083838 (A/G) and rs7992670 (A/G), were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 341 DCM patients and 381 healthy controls. Survival analysis was performed using Kaplan-Meier curves and Cox regression analysis.
Results:
The frequencies of allele A of both SNPs rs17083838 and rs7992670 were increased in DCM patients compared to healthy controls (P<0.05). Genotypic frequencies of rs17083838 and rs7992670 were associated with the susceptibility to DCM in the codominant, and recessive models (P<0.05), and AA/AG genotypes of rs17083838 were also related to DCM susceptibility in the dominant model. AA/AG genotypes of rs17083838 and the AA genotype of rs7992670 in the dominant and recessive genetic models presented a correlation with the poor prognosis of DCM patients in both univariate (P<0.05) and multivariate analyses (P<0.05) after adjusting for age, gender, left ventricular end-diastolic diameter (LVEDD), and left ventricular ejection fraction (LVEF).
Conclusions:
This research is the first to reveal that CDK8 gene polymorphisms might be related to DCM susceptibility and prognosis in the Chinese Han population.
Related Concept Videos
Cardiomyopathy II: Dilated Cardiomyopathy
Single Nucleotide Polymorphisms-SNPs
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cardiomyopathy I: Introduction and Classification
Comparing Copy Number Variations and SNPs
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%...

