Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort

dc.contributor.authorHendry, Liesl M.
dc.contributor.authorSahibdeen, Venesa
dc.contributor.authorChoudhury, Ananyo
dc.contributor.authorNorris, Shane A.
dc.contributor.authorRamsay, Michèle
dc.contributor.authorLombard, Zané
dc.date.accessioned2024-08-27T11:45:12Z
dc.date.available2024-08-27T11:45:12Z
dc.date.issued2018
dc.description.abstractBackground: Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with relatively few genetic studies having been performed in Africans. This study aimed to identify genetic variants associated with variance in systolic (SBP) and diastolic (DBP) blood pressure in black South Africans. Methods: Genotyping was performed using the Metabochip in a subset of participants (mixed sex; median age 17.9) and their adult female caregivers (median age 41.0) from the Birth to Twenty cohort (n = 1947). Data were analysed as a merged dataset (all participants and caregivers together) in GEMMA (v0.94.1) using univariate linear mixed models, incorporating a centered relatedness matrix to account for the relatedness between individuals and with adjustments for age, sex, BMI and principal components of the genotype information. Results: Association analysis identified regions of interest in the NOS1AP (DBP: rs112468105 - p = 7.18 × 10−5 and SBP: rs4657181 - p = 4.04 × 10−5), MYRF (SBP: rs11230796 - p = 2.16 × 10−7, rs400075 - p = 2.88 × 10−7) and POC1B (SBP: rs770373 - p = 7.05 × 10−5, rs770374 - p = 9.05 × 10−5) genes and some intergenic regions (DACH1|LOC440145 (DBP: rs17240498 - p = 4.91 × 10−6 and SBP: rs17240498 - p = 2.10 × 10−5) and INTS10|LPL (SBP: rs55830938 - p = 1.30 × 10−5, rs73599609 - p = 5.78 × 10−5, rs73667448 - p = 6.86×10−5)). Conclusions: The study provided further insight into the contribution of genetic variants to blood pressure in black South Africans. Future functional and replication studies in larger samples are required to confirm the role of the identified loci in blood pressure regulation and whether or not these variants are African-specific.
dc.description.sponsorshipNational Institutes of Health (U54HG006938).
dc.description.sponsorshipThuthuka Programme of the South African National Research Foundation (NRF) of South Africa.
dc.description.sponsorshipNRF Innovation Doctoral Scholarship.
dc.description.sponsorshipUniversity of the Witwatersrand.
dc.description.sponsorshipSouth African Medical Research Council.
dc.description.sponsorshipDST-NRF Centre of Excellence in Human Development.
dc.description.submitterPM2024
dc.facultyFaculty of Health Sciences
dc.identifier.citationHendry, L.M., Sahibdeen, V., Choudhury, A. et al. Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort. BMC Med Genomics 11, 2 (2018). https://doi.org/10.1186/s12920-018-0321-6
dc.identifier.issn1755-8794 (online)
dc.identifier.other10.1186/s12920-018-0321-6
dc.identifier.urihttps://hdl.handle.net/10539/40344
dc.journal.titleBMC Medical Genomics
dc.language.isoen
dc.publisherBMC
dc.relation.ispartofseriesVol. 11; No. 2
dc.rights© The Author(s). 2018 Open Access, This article is distributed under the terms of the Creative Commons Attribution 4.0 International License.
dc.schoolSchool of Molecular and Cell Biology
dc.subjectBirth to Twenty
dc.subjectBlack South Africans
dc.subjectBlood pressure
dc.subjectGenetics
dc.subjectMetabochip
dc.subject.otherSDG-3: Good health and well-being
dc.titleInsights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort
dc.typeArticle
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