RGD Reference Report - Association between CDK8 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population. - Rat Genome Database

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Association between CDK8 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population.

Authors: Zhang, Ran  Zhong, Yue  Long, Si-Yu  Yang, Qin-Ni  Zhou, Bin  Rao, Li 
Citation: Zhang R, etal., Cardiovasc Diagn Ther. 2021 Oct;11(5):1036-1046. doi: 10.21037/cdt-21-323.
RGD ID: 155260314
Pubmed: PMID:34815954   (View Abstract at PubMed)
PMCID: PMC8569267   (View Article at PubMed Central)
DOI: DOI:10.21037/cdt-21-323   (Journal Full-text)


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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CDK8Humandilated cardiomyopathy susceptibilityIAGP DNA:SNPs more ...RGD 
Cdk8Ratdilated cardiomyopathy susceptibilityISOCDK8 (Homo sapiens)DNA:SNPs more ...RGD 
Cdk8Mousedilated cardiomyopathy susceptibilityISOCDK8 (Homo sapiens)DNA:SNPs more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CDK8HumanAbnormal cardiac test susceptibilityIAGP DNA:SNP:intron: (rs7992670) (human)RGD 
CDK8HumanDilated cardiomyopathy susceptibilityIAGP DNA:SNPs more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cdk8  (cyclin-dependent kinase 8)

Genes (Mus musculus)
Cdk8  (cyclin dependent kinase 8)

Genes (Homo sapiens)
CDK8  (cyclin dependent kinase 8)


Additional Information