title: Genomic structural variations for cardiovascular and metabolic comorbidity.
abstract: The objective of this study was to identify genes targeted by both copy number and copy-neutral changes in the right coronary arteries in the area of advanced atherosclerotic plaques and intact internal mammary arteries derived from the same individuals with comorbid coronary artery disease and metabolic syndrome. The artery samples from 10 patients were screened for genomic imbalances using array comparative genomic hybridization. Ninety high-confidence, identical copy number variations (CNVs) were detected. We also identified eight copy-neutral changes (cn-LOHs) > 1.5 Mb in paired arterial samples in 4 of 10 individuals. The frequencies of the two gains located in the 10q24.31 (ERLIN1) and 12q24.11 (UNG, ACACB) genomic regions were evaluated in 33 paired arteries and blood samples. Two patients contained the gain in 10q24.31 (ERLIN1) and one patient contained the gain in 12q24.11 (UNG, ACACB) that affected only the blood DNA. An additional two patients harboured these CNVs in both the arteries and blood. In conclusion, we discovered and confirmed a gain of the 10q24.31 (ERLIN1) and 12q24.11 (UNG, ACACB) genomic regions in patients with coronary artery disease and metabolic comorbidity. Analysis of DNA extracted from blood indicated a possible somatic origin for these CNVs.
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.|Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.
authors.forename: Maria S
authors.initials: MS
authors.lastname: Nazarenko
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.|Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.
authors.forename: Aleksei A
authors.initials: AA
authors.lastname: Sleptcov
authors.affiliation: Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.|Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.
authors.forename: Igor N
authors.initials: IN
authors.lastname: Lebedev
authors.affiliation: Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.|Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.
authors.forename: Nikolay A
authors.initials: NA
authors.lastname: Skryabin
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.|Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.
authors.forename: Anton V
authors.initials: AV
authors.lastname: Markov
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.|Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.|Department of Experimental and Clinical Cardiology, Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia.
authors.forename: Maria V
authors.initials: MV
authors.lastname: Golubenko
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.
authors.forename: Iuliia A
authors.initials: IA
authors.lastname: Koroleva
authors.affiliation: Department of Multifocal Atherosclerosis, Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia.
authors.forename: Anton N
authors.initials: AN
authors.lastname: Kazancev
authors.affiliation: Department of Multifocal Atherosclerosis, Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia.
authors.forename: Olga L
authors.initials: OL
authors.lastname: Barbarash
authors.affiliation: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.|Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.
authors.forename: Valery P
authors.initials: VP
authors.lastname: Puzyrev
mesh_terms: D002318:Cardiovascular Diseases / Q000453:epidemiology* / Q000235:genetics*; D015897:Comorbidity; D055028:Comparative Genomic Hybridization; D003324:Coronary Artery Disease / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics; D023281:Genomics; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000453:epidemiology* / Q000235:genetics*; D008875:Middle Aged; D060888:Real-Time Polymerase Chain Reaction