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Circadian clock genes and circadian phenotypes in patients with myocardial infarction
Ivana Škrlec1, Jakov Milić2, Marija Heffer2
1Department of Biology and Chemistry, Faculty of Dental Medicine and Health, J. J. Strossmayer University of Osijek, Osijek, Croatia; Department of Medical Biology and Genetics, Faculty of Medicine, J. J. Strossmayer University of Osijek, Osijek, Croatia.
Insights
Genetic variations in circadian clock genes are linked to chronotype and daytime sleepiness in myocardial infarction (MI) patients. These findings highlight potential genetic factors influencing circadian phenotypes in heart disease.
Area of Science:
- Genetics
- Chronobiology
- Cardiology
Background:
- Circadian rhythms regulate human physiology and disease.
- Disrupted circadian rhythms and sleep duration are linked to various diseases.
- Sleep disorders are associated with adverse vascular outcomes, including myocardial infarction (MI).
Purpose of the Study:
- To investigate the association between circadian clock gene variants and circadian phenotypes in patients with MI.
- To explore genotype-phenotype interactions related to chronotype and sleepiness in MI.
- To identify specific single nucleotide polymorphisms (SNPs) in circadian clock genes associated with MI phenotypes.
Main Methods:
- An association study analyzing genotype-phenotype interactions.
- Examined allele frequencies of 10 SNPs in four circadian clock genes.
- Utilized the Morningness-Eveningness Questionnaire (MEQ) for chronotype and Epworth Sleepiness Scale (ESS) for daytime sleepiness in MI patients and controls.
Main Results:
- A significant association was found between chronotype and the ARNTL gene variant rs12363415 in MI patients.
- The CLOCK gene polymorphism rs11932595 and the PER2 gene polymorphism rs934945 were associated with daytime sleepiness in the MI patient group.
Conclusions:
- Genetic variations in specific circadian clock genes may influence chronotype and daytime sleepiness in individuals with myocardial infarction.
- These findings suggest a potential genetic link between circadian rhythm regulation and cardiovascular health.
- Further research into circadian clock gene variants could offer insights into MI pathogenesis and personalized medicine approaches.
Purpose:
Human physiological activities and diseases are under the control of the circadian rhythm. There are strong epidemiological associations between disrupted circadian rhythms, sleep duration and diseases. Sleep disorders are associated with vascular outcomes, such as myocardial infarction (MI).
Methods:
We conducted an association study of genotype-phenotype interaction, to determine which circadian clock gene variants might be associated with the circadian phenotypes in patients with MI. In the present study, we analyzed the allele frequencies of 10 single nucleotide polymorphisms in four circadian clock genes in two independent samples: MI patients and controls. Chronotype was assessed using the Morningness - Eveningness Questionnaire (MEQ) and daytime sleepiness using the Epworth Sleepiness Scale (ESS).
Results:
Chronotype was associated with the ARNTL genetic variant rs12363415 in MI patients. The polymorphisms rs11932595 of the CLOCK gene and rs934945 of the PER2 gene were associated with daytime sleepiness in the patient group.
Conclusion:
Our data suggest that genetic variations in some circadian clock genes might be related to circadian phenotype (i.e., chronotype and daytime sleepiness) in patients with myocardial infarction.
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