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Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC).

TitleDirect Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC).
Publication TypeJournal Article
Year of Publication2015
AuthorsSalfati E, Morrison AC, Boerwinkle E
Secondary AuthorsChakravarti A
JournalPLoS One
Date Published2015
KeywordsAfrican Continental Ancestry Group, Blood Pressure, Diastole, European Continental Ancestry Group, Female, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Humans, Inheritance Patterns, Male, Molecular Sequence Annotation, Polymorphism, Single Nucleotide, Systole

Blood pressure (BP) is a heritable trait with multiple environmental and genetic contributions, with current heritability estimates from twin and family studies being ~ 40%. Here, we use genome-wide polymorphism data from the Atherosclerosis Risk in Communities (ARIC) study to estimate BP heritability from genomic relatedness among cohort members. We utilized data on 6,365,596 and 9,578,528 genotyped and imputed common single nucleotide polymorphisms (SNPs), in 8,901 European ancestry (EA) and 2,860 African Ancestry (AA) ARIC participants, respectively, and a mixed linear model for analyses, to make four observations. First, for BP measurements, the heritability is ~20%/~50% and ~27%/~39% for systolic (SBP)/diastolic (DBP) blood pressure in European and African ancestry individuals, respectively, consistent with prior studies. Second, common variants with allele frequency >10% recapitulate most of the BP heritability in these data. Third, the vast majority of BP heritability varies by chromosome, depending on its length, and is largely concentrated in noncoding genomic regions annotated as DNaseI hypersensitive sites (DHSs). Fourth, the majority of this heritability arises from loci not harboring currently known cardiovascular and renal genes. Recent meta-analyses of large-scale genome-wide association studies (GWASs) and admixture mapping have identified ~50 loci associated with BP and hypertension (HTN), and yet they account for only a small fraction (~2%) of the heritability.

Alternate JournalPLoS One
PubMed ID26162070
PubMed Central IDPMC4498745
Grant ListUL1RR025005 / RR / NCRR NIH HHS / United States
R01HL59367 / HL / NHLBI NIH HHS / United States
HHSN268201100005C / / PHS HHS / United States
HHSN268201100009C / / PHS HHS / United States
HHSN268200625226C / / PHS HHS / United States
HHSN268201100010C / / PHS HHS / United States
U01HG004402 / HG / NHGRI NIH HHS / United States
HHSN268201100008C / / PHS HHS / United States
HHSN268201100012C / / PHS HHS / United States
R01HL087641 / HL / NHLBI NIH HHS / United States
HHSN268201100007C / / PHS HHS / United States
HHSN268201100011C / / PHS HHS / United States
HL086694 / HL / NHLBI NIH HHS / United States
HHSN268201100006C / / PHS HHS / United States
R01HL086694 / HL / NHLBI NIH HHS / United States