Genetic Variant (rs2304672) in 5’ UTR region in PER2 gene and its association to Parasomnias and other sleep disorders in Puerto Rico

Abstract

Sleeping is one of the main physiological processes of cellular and physiological restoration. Inadequate sleep patterns can impede adequate systemic restoration and can lead to the development of chronic health conditions. In 2014, both World Health Organization (WHO) and the Central Disease Control (CDC) in the United States categorized inadequate sleep patterns as a public health crisis. Both entities majorly agree that, approximately 40% of the general population suffers from sleep disorders, with 60% of these opt for medication to induce sleep. Researchers from Epidemiologist suggest that a series of external factors, have been theorized to contribute to lack in sleep quality. Including high levels of stress, sounds, and light quality. Alternatively, there has been a limitation regarding studying internal factors affecting sleep quality and sleep behavior. Parasomnia is an abnormal sleep behavior in any of the five sleep stages characterized by sleep walking, sleep talking, bedwetting, nightmare disorders, and sleep paralysis principally. To date, little is known about this sleep abnormality and its origins. In this study, we referenced data from the 1000 Genome Project to study the genetic variant (rs2304672) of the PER2 gene in Puerto Rico, whose general population houses the highest percentage of the variant in all the America’s. Provided data suggests that this genetic variant is linked to poor sleep quality and parasomnias. In Puerto Rico, modern demographics evidence that the population is comprised of three main ethnic groups. We theorize that a bottleneck effect is an influential factor in the distribution and prevalence of said genetic variant in the island. Our results found that the genetic variant is common in the southwestern and southeastern coastal regions of Puerto Rico. Additionally, we found that the genetic variant frequency in the entire island is of 3.83% in the general population of Puerto Rico.