Computational analysis of candidate disease genes and variants for Salt-sensitive hypertension in indigenous Southern Africans

Handle URI:
http://hdl.handle.net/10754/325286
Title:
Computational analysis of candidate disease genes and variants for Salt-sensitive hypertension in indigenous Southern Africans
Authors:
Tiffin, Nicki; Meintjes, Ayton; Ramesar, Rajkumar; Bajic, Vladimir B. ( 0000-0001-5435-4750 ) ; Rayner, Brian
Abstract:
Multiple factors underlie susceptibility to essential hypertension, including a significant genetic and ethnic component, and environmental effects. Blood pressure response of hypertensive individuals to salt is heterogeneous, but salt sensitivity appears more prevalent in people of indigenous African origin. The underlying genetics of salt-sensitive hypertension, however, are poorly understood. In this study, computational methods including text- and data-mining have been used to select and prioritize candidate aetiological genes for salt-sensitive hypertension. Additionally, we have compared allele frequencies and copy number variation for single nucleotide polymorphisms in candidate genes between indigenous Southern African and Caucasian populations, with the aim of identifying candidate genes with significant variability between the population groups: identifying genetic variability between population groups can exploit ethnic differences in disease prevalence to aid with prioritisation of good candidate genes. Our top-ranking candidate genes include parathyroid hormone precursor (PTH) and type-1angiotensin II receptor (AGTR1). We propose that the candidate genes identified in this study warrant further investigation as potential aetiological genes for salt-sensitive hypertension. © 2010 Tiffin et al.
KAUST Department:
Computational Bioscience Research Center (CBRC)
Citation:
Tiffin N, Meintjes A, Ramesar R, Bajic VB, Rayner B (2010) Computational Analysis of Candidate Disease Genes and Variants for Salt-Sensitive Hypertension in Indigenous Southern Africans. PLoS ONE 5: e12989. doi:10.1371/journal.pone.0012989.
Publisher:
Public Library of Science
Journal:
PLoS ONE
Issue Date:
27-Sep-2010
DOI:
10.1371/journal.pone.0012989
PubMed ID:
20886000
PubMed Central ID:
PMC2946338
Type:
Article
ISSN:
19326203
Appears in Collections:
Articles; Computational Bioscience Research Center (CBRC)

Full metadata record

DC FieldValue Language
dc.contributor.authorTiffin, Nickien
dc.contributor.authorMeintjes, Aytonen
dc.contributor.authorRamesar, Rajkumaren
dc.contributor.authorBajic, Vladimir B.en
dc.contributor.authorRayner, Brianen
dc.date.accessioned2014-08-27T09:44:58Z-
dc.date.available2014-08-27T09:44:58Z-
dc.date.issued2010-09-27en
dc.identifier.citationTiffin N, Meintjes A, Ramesar R, Bajic VB, Rayner B (2010) Computational Analysis of Candidate Disease Genes and Variants for Salt-Sensitive Hypertension in Indigenous Southern Africans. PLoS ONE 5: e12989. doi:10.1371/journal.pone.0012989.en
dc.identifier.issn19326203en
dc.identifier.pmid20886000en
dc.identifier.doi10.1371/journal.pone.0012989en
dc.identifier.urihttp://hdl.handle.net/10754/325286en
dc.description.abstractMultiple factors underlie susceptibility to essential hypertension, including a significant genetic and ethnic component, and environmental effects. Blood pressure response of hypertensive individuals to salt is heterogeneous, but salt sensitivity appears more prevalent in people of indigenous African origin. The underlying genetics of salt-sensitive hypertension, however, are poorly understood. In this study, computational methods including text- and data-mining have been used to select and prioritize candidate aetiological genes for salt-sensitive hypertension. Additionally, we have compared allele frequencies and copy number variation for single nucleotide polymorphisms in candidate genes between indigenous Southern African and Caucasian populations, with the aim of identifying candidate genes with significant variability between the population groups: identifying genetic variability between population groups can exploit ethnic differences in disease prevalence to aid with prioritisation of good candidate genes. Our top-ranking candidate genes include parathyroid hormone precursor (PTH) and type-1angiotensin II receptor (AGTR1). We propose that the candidate genes identified in this study warrant further investigation as potential aetiological genes for salt-sensitive hypertension. © 2010 Tiffin et al.en
dc.language.isoenen
dc.publisherPublic Library of Scienceen
dc.rightsTiffin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en
dc.rightsArchived with thanks to PLoS ONEen
dc.subjectangiotensin 2 receptoren
dc.subjecthormone precursoren
dc.subjectparathyroid hormoneen
dc.subjectsodium chlorideen
dc.subjectalleleen
dc.subjectCaucasianen
dc.subjectcontrolled studyen
dc.subjectcopy number variationen
dc.subjectdata miningen
dc.subjectethnic differenceen
dc.subjectgene frequencyen
dc.subjectgene identificationen
dc.subjectgenetic susceptibilityen
dc.subjectgenetic variabilityen
dc.subjecthypertensionen
dc.subjectmajor clinical studyen
dc.subjectNegroen
dc.subjectpopulation geneticsen
dc.subjectprevalenceen
dc.subjectsalt sensitive hypertensionen
dc.subjectsingle nucleotide polymorphismen
dc.subjectSouth Africaen
dc.subjectAfricaen
dc.subjectbiologyen
dc.subjectethnologyen
dc.subjectgene dosageen
dc.subjectgeneticsen
dc.subjecthypertensionen
dc.subjectmetabolismen
dc.subjectAfrica, Southernen
dc.subjectAfrican Continental Ancestry Groupen
dc.subjectComputational Biologyen
dc.subjectEuropean Continental Ancestry Groupen
dc.subjectGene Dosageen
dc.subjectGene Frequencyen
dc.subjectGenetic Variationen
dc.subjectHypertensionen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectSodium Chlorideen
dc.titleComputational analysis of candidate disease genes and variants for Salt-sensitive hypertension in indigenous Southern Africansen
dc.typeArticleen
dc.contributor.departmentComputational Bioscience Research Center (CBRC)en
dc.identifier.journalPLoS ONEen
dc.identifier.pmcidPMC2946338en
dc.eprint.versionPublisher's Version/PDFen
dc.contributor.institutionDivision of Nephrology and Hypertension, University of Cape Town/Groote Schuur Hospital, Cape Town, South Africaen
dc.contributor.institutionComputational Biology, Institute for Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town, South Africaen
dc.contributor.institutionMedical Research Council (MRC) Research Unit for Human Genetics, Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town, South Africaen
dc.contributor.affiliationKing Abdullah University of Science and Technology (KAUST)en
kaust.authorBajic, Vladimir B.en

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