Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort
type: CreativeWork
description: Background Chronic Kidney Disease (CKD), has a high and increasing burden in sub-Saharan Africa. Environmental factors that have been associated to CKD are associated with multiple co-morbidities such as hypertension, diabetes, and HIV. Some genetics factors such APOL1 have been associated with the highest burden of CKD among population of African ancestries. Other emerging genetic factors such as Sickle Cell trait (SCT) have been investigated mostly among African Americans. Sickle Cell trait (SCT) has the highest burden in sub-Saharan Africans, because of a natural selection, attributed to its protective advantages against the severest form of Malaria, caused by Plasmodium falciparum. Many studies showed that SCT has an impact on the normal functioning of the kidneys among African Americans with some studies indicating significant association between SCT and CKD. However, no study has been reported from Sub-Saharan Africa, where most SCT carrier reside. Moreover, there are multiple other loci and variants in the genome that have been associated with CKD in many populations, and that are used for Polygenic Risk Score (PRS) models but have not been explored in populations living in Africa. Aims This project aimed to study in a sub-Saharan African cohort, the association between 1) Sickle cell trait (SCT) with Chronic Kidney disease (CKD), and 2) the association of CKD with 29 targeted single nucleotide polymorphisms (SNPs) identified in multiple Genome-Wide Association studies (GWAS). Methods Patients and controls: 300 Cameroonian adult participants were included: 150 CKD cases and 150 non-CKD age, sex, and comorbidities matched controls. Molecular methods: SCT heterozygosity was determined by RFLP-PCR using the restriction enzyme DdeI. A total of 29 targeted SNPs was genotyped using MassArray and TaqMan techniques, followed by Sanger sequencing in a subset of samples. 11 Statistical Analysis: Descriptive statistics and logistic regression, and Fisher exact test were…
abstract: Background Chronic Kidney Disease (CKD), has a high and increasing burden in sub-Saharan Africa. Environmental factors that have been associated to CKD are associated with multiple co-morbidities such as hypertension, diabetes, and HIV. Some genetics factors such APOL1 have been associated with the highest burden of CKD among population of African ancestries. Other emerging genetic factors such as Sickle Cell trait (SCT) have been investigated mostly among African Americans. Sickle Cell trait (SCT) has the highest burden in sub-Saharan Africans, because of a natural selection, attributed to its protective advantages against the severest form of Malaria, caused by Plasmodium falciparum. Many studies showed that SCT has an impact on the normal functioning of the kidneys among African Americans with some studies indicating significant association between SCT and CKD. However, no study has been reported from Sub-Saharan Africa, where most SCT carrier reside. Moreover, there are multiple other loci and variants in the genome that have been associated with CKD in many populations, and that are used for Polygenic Risk Score (PRS) models but have not been explored in populations living in Africa. Aims This project aimed to study in a sub-Saharan African cohort, the association between 1) Sickle cell trait (SCT) with Chronic Kidney disease (CKD), and 2) the association of CKD with 29 targeted single nucleotide polymorphisms (SNPs) identified in multiple Genome-Wide Association studies (GWAS). Methods Patients and controls: 300 Cameroonian adult participants were included: 150 CKD cases and 150 non-CKD age, sex, and comorbidities matched controls. Molecular methods: SCT heterozygosity was determined by RFLP-PCR using the restriction enzyme DdeI. A total of 29 targeted SNPs was genotyped using MassArray and TaqMan techniques, followed by Sanger sequencing in a subset of samples. 11 Statistical Analysis: Descriptive statistics and logistic regression, and Fisher exact test were…
author: Masekoameng, Tshepiso
keywords: Human Genetics
date published: 2019
date modified: 2026-07-22T22:23:26Z
provider: University of Cape Town
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Division of Human Genetics

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11427/31357