The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra

dc.contributor.advisorBlackhurst, Dee Mary
dc.contributor.advisorMarais, David Adrian
dc.contributor.advisorBlom, Dirk Jacobus
dc.contributor.authorAteko, Richmond Owusu
dc.date.accessioned2024-12-19T11:08:50Z
dc.date.available2024-12-19T11:08:50Z
dc.date.issued2024
dc.date.updated2024-12-19T11:07:36Z
dc.description.abstractBackground 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
dc.identifier.apacitationAteko, R. O. (2024). <i>The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra</i>. (). University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences. Retrieved from http://hdl.handle.net/11427/40784en_ZA
dc.identifier.chicagocitationAteko, Richmond Owusu. <i>"The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra."</i> ., University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2024. http://hdl.handle.net/11427/40784en_ZA
dc.identifier.citationAteko, R.O. 2024. The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra. . University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences. http://hdl.handle.net/11427/40784en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Ateko, Richmond Owusu AB - 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 DA - 2024 DB - OpenUCT DP - University of Cape Town KW - Chemical pathology LK - https://open.uct.ac.za PB - University of Cape Town PY - 2024 T1 - The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra TI - The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra UR - http://hdl.handle.net/11427/40784 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/40784
dc.identifier.vancouvercitationAteko RO. The prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra. []. University of Cape Town ,Faculty of Health Sciences ,Department of Clinical Laboratory Sciences, 2024 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/40784en_ZA
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Clinical Laboratory Sciences
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.subjectChemical pathology
dc.titleThe prevalence of dysbetalipoproteinaemia in Ghanaian adults living in Accra
dc.typeThesis / Dissertation
dc.type.qualificationlevelDoctoral
dc.type.qualificationlevelPhD
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