Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon

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dc.contributor.advisorWonkam, Ambroiseen_ZA
dc.contributor.advisorChimusa, Emile Ren_ZA
dc.contributor.authorGeard, Amyen_ZA
dc.date.accessioned2017-01-25T13:56:06Z
dc.date.available2017-01-25T13:56:06Z
dc.date.issued2016en_ZA
dc.description.abstractIntroduction: Sickle Cell Disease (SCD) is a monogenic, multi-organ hemoglobinopathy disorder that is highly prevalent in Africa, with nearly 300 000 newborn cases per year. The underlying pathophysiological mechanism of the disease involves alteration of the normal soft and biconcave disc shape of erythrocytes, to that of a rigid crescent. These abnormal red blood cells cause vaso-occlusion and intravascular hemolysis, resulting in a variety of clinical manifestations, including acute pain crises, anemia, and damage to various organs. Kidney disease is a clinical proxy of severity, developing only in a subset of patients, and is subject to modification by genetic variations. Indeed, reports have shown significant association between proteinuria and specific genetic variants in MYH9 and APOL1, and between estimated Glomerular Filtration Rate (eGFR) and End Stage Kidney Disease (ESKD) with HMOX1 variants among adult African Americans affected by SCD. However, the association between these variants and micro-albuminuria, a primary indicator of renal dysfunction, has not been investigated, nor has any study of these variants been performed among SCD patients in Africa. Aim: The aim of this study was to investigate the association of targeted single nucleotide polymorphisms (SNPs) in APOL1, MYH9 and HMOX1, as well as a 5' promoter dinucleotide repeat in HMOX1, with micro-albuminuria among SCD patients from Cameroon; and to compare the results to that from a cohort of non-SCD Cameroonian individuals affected by ESKD.en_ZA
dc.identifier.apacitationGeard, A. (2016). <i>Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/23042en_ZA
dc.identifier.chicagocitationGeard, Amy. <i>"Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2016. http://hdl.handle.net/11427/23042en_ZA
dc.identifier.citationGeard, A. 2016. Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Geard, Amy AB - Introduction: Sickle Cell Disease (SCD) is a monogenic, multi-organ hemoglobinopathy disorder that is highly prevalent in Africa, with nearly 300 000 newborn cases per year. The underlying pathophysiological mechanism of the disease involves alteration of the normal soft and biconcave disc shape of erythrocytes, to that of a rigid crescent. These abnormal red blood cells cause vaso-occlusion and intravascular hemolysis, resulting in a variety of clinical manifestations, including acute pain crises, anemia, and damage to various organs. Kidney disease is a clinical proxy of severity, developing only in a subset of patients, and is subject to modification by genetic variations. Indeed, reports have shown significant association between proteinuria and specific genetic variants in MYH9 and APOL1, and between estimated Glomerular Filtration Rate (eGFR) and End Stage Kidney Disease (ESKD) with HMOX1 variants among adult African Americans affected by SCD. However, the association between these variants and micro-albuminuria, a primary indicator of renal dysfunction, has not been investigated, nor has any study of these variants been performed among SCD patients in Africa. Aim: The aim of this study was to investigate the association of targeted single nucleotide polymorphisms (SNPs) in APOL1, MYH9 and HMOX1, as well as a 5' promoter dinucleotide repeat in HMOX1, with micro-albuminuria among SCD patients from Cameroon; and to compare the results to that from a cohort of non-SCD Cameroonian individuals affected by ESKD. DA - 2016 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2016 T1 - Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon TI - Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon UR - http://hdl.handle.net/11427/23042 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/23042
dc.identifier.vancouvercitationGeard A. Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2016 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/23042en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleAssociation of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroonen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMSc (Med)en_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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