CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease

Cardiovascular disease is the leading cause of death in the United States. Consequently, individuals who are genetically predisposed for high risk of cardiovascular disease would benefit most from prevention and early intervention approaches. Among common health risk factors affecting adult populati...

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Bibliographic Details
Published in:International journal of cardiology 2020-01, Vol.298, p.107-113
Main Authors: Glessner, Joseph T., Li, Jin, Desai, Akshatha, Palmer, Melody, Kim, Dokyoon, Lucas, Anastasia Marie, Chang, Xiao, Connolly, John J., Almoguera, Berta, Harley, John B., Jarvik, Gail P., Ritchie, Marylyn D., Sleiman, Patrick M.A., Roden, Dan M., Crosslin, David, Hakonarson, Hakon
Format: Article
Language:English
Subjects:
BMI
Cardiovascular disease
Copy number variations
Genome-wide association study
Glucose levels
Lipid profiling
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Summary:Cardiovascular disease is the leading cause of death in the United States. Consequently, individuals who are genetically predisposed for high risk of cardiovascular disease would benefit most from prevention and early intervention approaches. Among common health risk factors affecting adult populations, we evaluated 23 cardiovascular disease-related traits, including BMI, glucose levels and lipid profiling to determine their associations with low-frequency recurrent copy number variations (CNV) (population frequency 
ISSN:0167-5273
1874-1754
DOI:10.1016/j.ijcard.2019.07.058