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A Whole Exome Study of Sudden Unexplained Nocturnal Death Syndrome in Young-Adult Thai Population

กรเกียรติ วงศ์ไพศาลสิน; Kornkiat Vongpaisarnsin; ทิฆัมพร สถิรแพทย์; Tikumphorn Sathirapatya; ปุณยภัทร สุขวุฒิยา; Poonyapat Sukawutthiya; ฮัสนีย์ โนะ; Hasnee Noh; ภัคค์ปภัส วรัชต์ญารมย์; Pagparpat Varrathyarom; รัชติพรรณ ปิติวรารมย์; Rachtipan Pitiwararom;
Date: 2566-08
Abstract
Genetic testing for identifying genetic factors underlying diseases or their correlations with disease development is widely used in medical research. It can be employed to search for elusive disease-causing genes or genes contributing to complex diseases, leading to treatment and prevention strategies. The concept has been applied to investigate the causes of sudden unexplained nocturnal death within the young population, particularly in Thais. Studying the exome of deceased individuals is valuable for identifying potential gene factors that may be related to or responsible for their demise. Previous studies have focused on single gene, such as those associated with channelopathies related to sudden cardiac death. These genes were found to be interconnected and systematically organized. However, due to the unique nature of sudden unexplained nocturnal death, the causative factors might differ from the previously studied groups. This forms the basis of the current research. In this study, blood samples were collected from a sample group of 98 deceased individuals and 2 deceased relatives. Comprehensive genetic analysis was performed on whole exomes study. The results were then compared against medical databases and classified according to bodily systems, such as the cardiovascular system, nervous system/brain, and metabolism. The study presents genes identified within Thai population, categorized based on various factors that could potentially contribute to their demise. Additionally, novel genes were discovered, both within the nervous system and brain, as well as the cardiovascular system, which could be significant contributors to fatalities.
Copyright ผลงานวิชาการเหล่านี้เป็นลิขสิทธิ์ของสถาบันวิจัยระบบสาธารณสุข หากมีการนำไปใช้อ้างอิง โปรดอ้างถึงสถาบันวิจัยระบบสาธารณสุข ในฐานะเจ้าของลิขสิทธิ์ตามพระราชบัญญัติสงวนลิขสิทธิ์สำหรับการนำงานวิจัยไปใช้ประโยชน์ในเชิงพาณิชย์
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