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

Tytuł:: Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort.
Autorzy:: Hendry LM; School of Molecular & Cell Biology, Faculty of Science, University of the Witwatersrand, Johannesburg, South Africa. .; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. .
Sahibdeen V; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service & University of the Witwatersrand, Johannesburg, South Africa.
Choudhury A; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Norris SA; MRC/Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Ramsay M; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service & University of the Witwatersrand, Johannesburg, South Africa.
Lombard Z; School of Molecular & Cell Biology, Faculty of Science, University of the Witwatersrand, Johannesburg, South Africa.; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service & University of the Witwatersrand, Johannesburg, South Africa.
Corporate Authors:: of the AWI-Gen study and as members of the H3Africa Consortium
Źródło:: BMC medical genomics [BMC Med Genomics] 2018 Jan 17; Vol. 11 (1), pp. 2. Date of Electronic Publication: 2018 Jan 17.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: London : BioMed Central
MeSH Terms:: Polymorphism, Genetic*
Black People/*genetics
Blood Pressure/*genetics
Adolescent ; Adult ; Cohort Studies ; Female ; Genotype ; Humans ; Male ; Phenotype ; South Africa
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Grant Information:: U54 HG006938 United States HG NHGRI NIH HHS
Contributed Indexing:: Keywords: Birth to Twenty; Metabochip; black South Africans; blood pressure; genetics
Entry Date(s):: Date Created: 20180119 Date Completed: 20190529 Latest Revision: 20221207
Update Code:: 20240104
PubMed Central ID:: PMC5773038
DOI:: 10.1186/s12920-018-0321-6
PMID:: 29343252
: Czasopismo naukowe

Pełny tekst

Background: 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.

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