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The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra

Background Dysbetalipoproteinaemia (dysβ) is a disorder characterised by elevated triglyceride-rich lipoprotein remnants leading to increased plasma levels of total cholesterol and triglyceride. Dysbetalipoproteinaemia is positively associated with premature cardiovascular disease. In several places...

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Main Author: Ateko, Richmond Owusu
Other Authors: Blackhurst, Dee Mary
Format: Thesis
Language:English
Published: Department of Clinical Laboratory Sciences 2024
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access_status_str Open Access
author Ateko, Richmond Owusu
author2 Blackhurst, Dee Mary
author_browse Ateko, Richmond Owusu
Blackhurst, Dee Mary
author_facet Blackhurst, Dee Mary
Ateko, Richmond Owusu
author_sort Ateko, Richmond Owusu
collection Thesis
description Background Dysbetalipoproteinaemia (dysβ) is a disorder characterised by elevated triglyceride-rich lipoprotein remnants leading to increased plasma levels of total cholesterol and triglyceride. Dysbetalipoproteinaemia is positively associated with premature cardiovascular disease. In several places worldwide, especially in sub-Saharan Africa, clinicians often miss the diagnosis of dysβ due to a lack of awareness of the disorder and its manifestations. Although the apo E2/2 isoform is the most common genetic cause of dysβ, other mutations in apo E, which are autosomal dominant, can also cause dysβ. The apo E arginine 145 cysteine (R145C) is such a mutation and is highly prevalent in the indigenous African population of South Africa. Its prevalence in Ghana is unknown. Aim The main aim of this study was to determine the prevalence of dysβ by a diagnostic electrophoresis technique in Ghanaians living in Accra, and to establish the genetic associations. Method(s) The study recruited 1032 participants, comprising 702 healthy controls, 268 diabetic patients, and 62 ischaemic heart disease (IHD) patients. Adult men and postmenopausal women were studied as dysβ is most commonly identified in these demographic groups. Anthropometric measurements and blood pressure readings were taken and recorded after participants consented. Blood samples were collected to analyse concentrations of creatinine, glucose, and triglyceride, total cholesterol, HDL-c, and calculated LDL-c. DNA analyses were conducted to identify the presence of the apoE genotype and the frequency of apoE (R145C) in the study population. Non-denaturing polyacrylamide gradient gel electrophoresis (PGGE) was used to screen for the dysβ phenotype by determining whether remnant-sized lipoproteins had accumulated in the characteristic pattern of dysβ Findings The study revealed the presence of dysβ within a subset of the Ghanaian population, with a notable association observed among individuals exhibiting apo ԑ2/2 homozygosity. Moreover, the study shed light on the utility of PGGE as an economical and practical screening tool for identifying dysβ cases. Additionally, investigating the clinical implications associated with dysβ in the Ghanaian population could provide valuable insights for healthcare providers and policymakers
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institution University of Cape Town (South Africa)
language eng
last_indexed 2026-06-10T12:32:46.693Z
license_str Not specified — see source repository
provenance_str_mv Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository
publishDate 2024
publishDateRange 2024
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spelling oai:open.uct.ac.za:11427/40784 The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra Ateko, Richmond Owusu Blackhurst, Dee Mary Marais, David Adrian Blom, Dirk Jacobus Chemical pathology Background Dysbetalipoproteinaemia (dysβ) is a disorder characterised by elevated triglyceride-rich lipoprotein remnants leading to increased plasma levels of total cholesterol and triglyceride. Dysbetalipoproteinaemia is positively associated with premature cardiovascular disease. In several places worldwide, especially in sub-Saharan Africa, clinicians often miss the diagnosis of dysβ due to a lack of awareness of the disorder and its manifestations. Although the apo E2/2 isoform is the most common genetic cause of dysβ, other mutations in apo E, which are autosomal dominant, can also cause dysβ. The apo E arginine 145 cysteine (R145C) is such a mutation and is highly prevalent in the indigenous African population of South Africa. Its prevalence in Ghana is unknown. Aim The main aim of this study was to determine the prevalence of dysβ by a diagnostic electrophoresis technique in Ghanaians living in Accra, and to establish the genetic associations. Method(s) The study recruited 1032 participants, comprising 702 healthy controls, 268 diabetic patients, and 62 ischaemic heart disease (IHD) patients. Adult men and postmenopausal women were studied as dysβ is most commonly identified in these demographic groups. Anthropometric measurements and blood pressure readings were taken and recorded after participants consented. Blood samples were collected to analyse concentrations of creatinine, glucose, and triglyceride, total cholesterol, HDL-c, and calculated LDL-c. DNA analyses were conducted to identify the presence of the apoE genotype and the frequency of apoE (R145C) in the study population. Non-denaturing polyacrylamide gradient gel electrophoresis (PGGE) was used to screen for the dysβ phenotype by determining whether remnant-sized lipoproteins had accumulated in the characteristic pattern of dysβ Findings The study revealed the presence of dysβ within a subset of the Ghanaian population, with a notable association observed among individuals exhibiting apo ԑ2/2 homozygosity. Moreover, the study shed light on the utility of PGGE as an economical and practical screening tool for identifying dysβ cases. Additionally, investigating the clinical implications associated with dysβ in the Ghanaian population could provide valuable insights for healthcare providers and policymakers 2024-12-19T11:08:50Z 2024-12-19T11:08:50Z 2024 2024-12-19T11:07:36Z Thesis / Dissertation Doctoral PhD http://hdl.handle.net/11427/40784 eng application/pdf Department of Clinical Laboratory Sciences Faculty of Health Sciences University of Cape Town
spellingShingle Chemical pathology
Ateko, Richmond Owusu
The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
thesis_degree_str Doctoral
title The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
title_full The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
title_fullStr The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
title_full_unstemmed The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
title_short The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
title_sort prevalence of dysbetalipoproteinaemia in ghanaian adults living in accra
topic Chemical pathology
url http://hdl.handle.net/11427/40784
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