A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population
Cardiovascular disease (CVD) is Malaysia's leading cause of mortality, accounting for 21.65% and 23.79% of all deaths in government and private hospitals in 2018. It is expected to continue rising in the next few decades. Hypertension-related left ventricular hypertrophy (HT-LVH) is an independ...
Published in: | Genetic Disorders and Rare Diseases: Current Updates |
---|---|
Main Author: | |
Format: | Book chapter |
Language: | English |
Published: |
Nova Science Publishers, Inc.
2023
|
Online Access: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85172693805&partnerID=40&md5=60367c37ab55f0a00c1ab5e89339323f |
id |
2-s2.0-85172693805 |
---|---|
spelling |
2-s2.0-85172693805 Mat Jusoh J.A.; Peng H.B.; Yusoff K. A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population 2023 Genetic Disorders and Rare Diseases: Current Updates https://www.scopus.com/inward/record.uri?eid=2-s2.0-85172693805&partnerID=40&md5=60367c37ab55f0a00c1ab5e89339323f Cardiovascular disease (CVD) is Malaysia's leading cause of mortality, accounting for 21.65% and 23.79% of all deaths in government and private hospitals in 2018. It is expected to continue rising in the next few decades. Hypertension-related left ventricular hypertrophy (HT-LVH) is an independent risk factor for cardiovascular mortality and morbidity and a substantial predictor of adverse cardiovascular outcomes. Regression of LVH is associated with reduced cardiovascular complications. However, 33.3% only of hypertensive patients in Malaysia benefit from the blood pressure-lowering effects of antihypertensive medication. Therefore, we anticipate a more minor LVH regression among patients in the country. Copy number variation (CNV) has been implicated in the pathogenesis of HT-LVH. A genome-wide analysis study comparing 100 patients with HT-LVH with 200 hypertensive individuals revealed the presence of 208 rare CNVs in the HT-LVH group. The analysis identified several genes for cardiac development and traits, including IQGAP2, VAV3, F2R, and CDH15. The gene-set was enriched in transcription factors that regulated the "foetal cardiac gene programme" and triggered the hypertrophic cascade by activating pathways associated with Sp1, CREB1, p53, and androgen receptor expression. This shows that controlling pathways associated with foetal cardiac genes may be crucial for LVH treatment. In conclusion, HT-LVH is prevalent among Malaysians, and a rare CNV contributes to its development by disrupting the functional regulation of the foetal cardiac gene programme. © 2023 Nova Science Publishers, Inc. All rights reserved. Nova Science Publishers, Inc. English Book chapter |
author |
Mat Jusoh J.A.; Peng H.B.; Yusoff K. |
spellingShingle |
Mat Jusoh J.A.; Peng H.B.; Yusoff K. A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
author_facet |
Mat Jusoh J.A.; Peng H.B.; Yusoff K. |
author_sort |
Mat Jusoh J.A.; Peng H.B.; Yusoff K. |
title |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
title_short |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
title_full |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
title_fullStr |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
title_full_unstemmed |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
title_sort |
A rare genomic copy number variation in hypertension-related left ventricular hypertrophy in the malaysian population |
publishDate |
2023 |
container_title |
Genetic Disorders and Rare Diseases: Current Updates |
container_volume |
|
container_issue |
|
doi_str_mv |
|
url |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85172693805&partnerID=40&md5=60367c37ab55f0a00c1ab5e89339323f |
description |
Cardiovascular disease (CVD) is Malaysia's leading cause of mortality, accounting for 21.65% and 23.79% of all deaths in government and private hospitals in 2018. It is expected to continue rising in the next few decades. Hypertension-related left ventricular hypertrophy (HT-LVH) is an independent risk factor for cardiovascular mortality and morbidity and a substantial predictor of adverse cardiovascular outcomes. Regression of LVH is associated with reduced cardiovascular complications. However, 33.3% only of hypertensive patients in Malaysia benefit from the blood pressure-lowering effects of antihypertensive medication. Therefore, we anticipate a more minor LVH regression among patients in the country. Copy number variation (CNV) has been implicated in the pathogenesis of HT-LVH. A genome-wide analysis study comparing 100 patients with HT-LVH with 200 hypertensive individuals revealed the presence of 208 rare CNVs in the HT-LVH group. The analysis identified several genes for cardiac development and traits, including IQGAP2, VAV3, F2R, and CDH15. The gene-set was enriched in transcription factors that regulated the "foetal cardiac gene programme" and triggered the hypertrophic cascade by activating pathways associated with Sp1, CREB1, p53, and androgen receptor expression. This shows that controlling pathways associated with foetal cardiac genes may be crucial for LVH treatment. In conclusion, HT-LVH is prevalent among Malaysians, and a rare CNV contributes to its development by disrupting the functional regulation of the foetal cardiac gene programme. © 2023 Nova Science Publishers, Inc. All rights reserved. |
publisher |
Nova Science Publishers, Inc. |
issn |
|
language |
English |
format |
Book chapter |
accesstype |
|
record_format |
scopus |
collection |
Scopus |
_version_ |
1809678155583062016 |