Somatic mosaicism and structural variability of GBP3 gene in atherosclerosis
A. A. Sleptsov,
M. S. Nazarenko,
A. V. Zaitseva,
A. N. Kazantsev,
N. N. Burkov,
O. L. Barbarash,
V. P. Puzyrev
Affiliations
A. A. Sleptsov
Research Institute of Medical Genetics of Tomsk National Research Medical Center of RAS Russian Federation
M. S. Nazarenko
Research Institute of Medical Genetics of Tomsk National Research Medical Center of RAS; Siberian State Medical University of Minzdrav of Russia Russian Federation
A. V. Zaitseva
Siberian State Medical University of Minzdrav of Russia Russian Federation
A. N. Kazantsev
Research Institute for Complex Issues of Cardiovascular Diseases Russian Federation
N. N. Burkov
Research Institute for Complex Issues of Cardiovascular Diseases Russian Federation
O. L. Barbarash
Research Institute for Complex Issues of Cardiovascular Diseases Russian Federation
V. P. Puzyrev
Research Institute of Medical Genetics of Tomsk National Research Medical Center of RAS; Siberian State Medical University of Minzdrav of Russia Russian Federation
The goal of the study was to analyze copy number variation (CNV) in the GBP3 gene between white blood cells and atherosclerotic plaques of patients with carotid atherosclerosis. The material was both blood samples and atherosclerotic plaques obtained from the same patients with carotid atherosclerosis (n = 94). Assessment of CNV was performed using digital droplet PCR. As a result, it was shown that among 94 patients with carotid atherosclerosis, the CNV frequency was 44 % in the GBP3 gene in leukocytes. Deletion was detected in 5 (5.3 %) patients, and loss in 36 (38.3 %) patients. The gain was identified in one patient. Somatic mosaicism was found in 12 (13 %) of patients, comparing DNA samples of atherosclerotic plaque tissue and white blood cells from the same patients. Mosaic copy number losses predominantly were detected in white blood cells, in contrast mosaic copy number gains were identified in atherosclerotic plaques. Somatic mosaicism of the GBP3 gene is widespread in atherosclerosis. Different ratio of mosaic clones carrying certain type of CNV in GBP3 gene is presented.
