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Published on: May 5, 2018
Genomic structural variations for cardiovascular and metabolic comorbidity.
Maria S Nazarenko1,2, Aleksei A Sleptcov1,2, Igor N Lebedev2,3
1Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.
This study identified copy number variations (CNVs) in coronary arteries of patients with atherosclerosis and metabolic syndrome. Gains in the ERLIN1 and UNG/ACACB genomic regions were confirmed, suggesting a potential somatic origin.
Area of Science:
- Genomics
- Cardiovascular Disease Research
- Metabolic Syndrome
Background:
- Coronary artery disease (CAD) and metabolic syndrome often coexist.
- Understanding genomic alterations in affected arteries is crucial for disease insight.
Purpose of the Study:
- To identify genes affected by copy number and copy-neutral changes in coronary arteries.
- To investigate genomic imbalances in atherosclerotic plaques and internal mammary arteries from patients with comorbid CAD and metabolic syndrome.
Main Methods:
- Array comparative genomic hybridization (aCGH) was used to screen arterial samples from 10 patients.
- Identified copy number variations (CNVs) and copy-neutral loss-of-heterozygosity (cn-LOH) events.
- Evaluated specific genomic region gains (10q24.31 and 12q24.11) in 33 paired artery and blood samples.
Main Results:
- Ninety high-confidence CNVs were detected in paired arterial samples.
- Eight cn-LOH events (>1.5 Mb) were identified in 4 of 10 individuals.
- Confirmed gains in the 10q24.31 (ERLIN1) and 12q24.11 (UNG, ACACB) genomic regions in patients, with some present in both artery and blood DNA.
Conclusions:
- Discovered and confirmed gains in the 10q24.31 (ERLIN1) and 12q24.11 (UNG, ACACB) genomic regions in patients with CAD and metabolic comorbidity.
- Analysis of blood DNA suggests a possible somatic origin for these copy number variations.
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