Copy number variation of ERLIN1 in coronary heart disease
https://doi.org/10.1234/XXXX-XXXX-2016-5-42-44
Abstract
Despite the advances in uncovering of the genetic component of coronary heart disease (CHD), only a small fraction of the heritability of the disease has been explained. Currently, there are relatively few studies of copy number variation (CNV) in cardiovascular diseases. Aim. Assessment of the CNVs 10q24.31 ( ERLIN1 ) in the cells of the coronary arteries and white blood cells (WBC) in patients with CHD. Materials and methods. Detection of the CNVs was performed by qPCR using TaqMan-probes in WBC samples (n = 110) and atherosclerotic plaques of the coronary arteries (n = 33) in patients with CHD, as well as in WBC samples of healthy individuals (n = 100). Statistical analysis was carried out using a standard curve of Pfaffl method. Results and conclusions. We found the amplification in 10q24.31 ( ERLIN1 ) region in 3% of patients with CHD, whereas deletion was observed in 1% of healthy individuals. In addition, two patients had amplification in analyzed region only in WBC, but not in the atherosclerotic plaques of the coronary arteries.
About the Authors
A. A. Sleptsov
Research Institute of Medical Genetics; National Research Tomsk State University
Russian Federation
Russian Federation
M. S. Nazarenko
Research Institute of Medical Genetics; National Research Tomsk State University
Russian Federation
Russian Federation
O. L. Barbarash
Institute for Complex Issues of Cardiovascular Diseases
Russian Federation
Russian Federation
V. P. Puzyrev
Research Institute of Medical Genetics; National Research Tomsk State University
Russian Federation
Russian Federation
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Review
For citations:
Sleptsov A.A., Nazarenko M.S., Barbarash O.L., Puzyrev V.P. Copy number variation of ERLIN1 in coronary heart disease. Medical Genetics. 2016;15(5):42-44. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-5-42-44
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