Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. PLOS ONE. pp. 1-16. ISSN 1932-6203 (2016)
Abstract
Left ventricular hypertrophy (LVH) is an independent risk factor for cardiovascular morbidity
and mortality, and a powerful predictor of adverse cardiovascular outcomes in the hypertensive patients. It has complex multifactorial and polygenic basis for its pathogenesis. We
hypothesized that rare copy number variants (CNVs) contribute to the LVH pathogenesis in
hypertensive patients. Copy number variants (CNV) were identified in 258 hypertensive
patients, 95 of whom had LVH, after genotyping with a high resolution SNP array. Following
stringent filtering criteria, we identified 208 rare, or private CNVs that were only present in
our patients with hypertension related LVH. Preliminary findings from Gene Ontology and
pathway analysis of this study confirmed the involvement of the genes known to be functionally involved in cardiac development and phenotypes, in line with previously reported transcriptomic studies. Network enrichment analyses suggested that the gene-set was, directly
or indirectly, involved in the transcription factors regulating the “foetal cardiac gene programme” which triggered the hypertrophic cascade, confirming previous reports. These
findings suggest that multiple, individually rare copy number variants altering genes may
contribute to the pathogenesis of hypertension-related LVH. In summary, we have provided
further supporting evidence that rare CNV could potentially impact this common and complex disease susceptibility with lower heritability
| Item Type: | Article |
|---|---|
| Keywords: | Copy Number Variants (CNVs), Genetic Variation, Genomic DNA, Genome Mapping, Genotyping |
| Taxonomy: | By Niche > Genome > Genomes By Niche > Genome > Human Genome |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Hazrul Amir Tomyang (Puncak Alam) |
| Date Deposited: | 30 Oct 2024 01:26 |
| Last Modified: | 30 Oct 2024 01:26 |
| Related URLs: |
Actions (login required)
 |
View Item |