Ivana Škrlec1, Jakov Milić2, Marija Heffer2, Jasenka Wagner3, Borut Peterlin4. 1. Department 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. Electronic address: iskrlec@fdmz.hr. 2. Department of Medical Biology and Genetics, Faculty of Medicine, J. J. Strossmayer University of Osijek, Osijek, Croatia. 3. Department 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. 4. Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.
Abstract
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.
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.