Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)
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{"title"=>"Direct estimates of the genomic contributions to blood pressure heritability within a population-based cohort (ARIC)", "type"=>"journal", "authors"=>[{"first_name"=>"Elias", "last_name"=>"Salfati", "scopus_author_id"=>"56331405200"}, {"first_name"=>"Alanna C.", "last_name"=>"Morrison", "scopus_author_id"=>"7402258577"}, {"first_name"=>"Eric", "last_name"=>"Boerwinkle", "scopus_author_id"=>"7102087489"}, {"first_name"=>"Aravinda", "last_name"=>"Chakravarti", "scopus_author_id"=>"35355137200"}], "year"=>2015, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "pui"=>"605951776", "doi"=>"10.1371/journal.pone.0133031", "sgr"=>"84941353091", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pmid"=>"26162070", "scopus"=>"2-s2.0-84941353091"}, "id"=>"db60d783-6591-3015-b833-f83daa220a7c", "abstract"=>"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.", "link"=>"http://www.mendeley.com/research/direct-estimates-genomic-contributions-blood-pressure-heritability-within-populationbased-cohort-ari", "reader_count"=>16, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>2, "Student > Doctoral Student"=>1, "Researcher"=>3, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>1, "Student > Master"=>1, "Student > Bachelor"=>4, "Professor"=>1}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>2, "Student > Doctoral Student"=>1, "Researcher"=>3, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>1, "Student > Master"=>1, "Student > Bachelor"=>4, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>3, "Medicine and Dentistry"=>5, "Agricultural and Biological Sciences"=>5, "Social Sciences"=>1, "Pharmacology, Toxicology and Pharmaceutical Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>5}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>3}, "Unspecified"=>{"Unspecified"=>1}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}}, "reader_count_by_country"=>{"United Kingdom"=>1}, "group_count"=>1}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2170691"], "description"=>"<p><b>(a)</b> Proportion of the genetic variance explained by SNPs for SBP and DBP for genotyped and imputed SNPs within known gene annotations (Metabochip SNPs = Markers associated with metabolic traits; Cardio/Kidney SNPs EBI = Markers associated with cardiovascular traits annotated by EBI; Non-Cardio/Kidney SNPs = Markers with no known association with cardiovascular or renal tissue) in 8,901 EA individuals. The trait analyzed is first-visit SBP and DBP with analyses for genotyped and imputed SNPs, <b>(b)</b> Legend as in <b>(a)</b> but for 2,860 AA individuals.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479373, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.g003", "stats"=>{"downloads"=>0, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Direct_Estimates_of_the_Genomic_Contributions_to_Blood_Pressure_Heritability_within_a_Population_Based_Cohort_ARIC_Fig_3_/1479373", "title"=>"Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC) - Fig 3", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170687"], "description"=>"<p><b>(a)</b> Estimates of the variance explained by SNPs by chromosome (<i>h</i><sup><i>2</i></sup><sub><i>c</i></sub>) for SBP (red) and DBP (blue) by joint analysis of 8,901 EA individuals. The trait analyzed is first-visit and long-term average SBP and DBP respectively with analyses using genotyped and imputed SNPs, <b>(b)</b> Legend as in <b>(a)</b> but for 2,860 AA individuals.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479369, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.g001", "stats"=>{"downloads"=>0, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Direct_Estimates_of_the_Genomic_Contributions_to_Blood_Pressure_Heritability_within_a_Population_Based_Cohort_ARIC_Fig_1_/1479369", "title"=>"Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC) - Fig 1", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170695"], "description"=>"<p>The traits analyzed are first-visit SBP and DBP respectively for genotyped and imputed SNPs. The heritability (h<sup>2</sup>), its standard error (se) and significance value (P) are shown.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479377, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.t003", "stats"=>{"downloads"=>1, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Proportion_of_the_genetic_variance_explained_as_a_function_of_minor_allele_frequency_MAF_class_using_8_901_EA_and_2_860_AA_individuals_/1479377", "title"=>"Proportion of the genetic variance explained as a function of minor allele frequency (MAF) class using 8,901 EA and 2,860 AA individuals.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170693"], "description"=>"<p>The trait analyzed is first-visit SBP and DBP and long-term average (LTA) SBP and DBP respectively using genotyped and imputed SNPs. The heritability (h<sup>2</sup>), its standard error (se) and significance value (P) are shown.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479375, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.t002", "stats"=>{"downloads"=>1, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Proportion_of_the_genetic_variance_explained_by_chromosome_joint_and_the_whole_genome_combined_using_8_901_EA_and_2_860_AA_individuals_/1479375", "title"=>"Proportion of the genetic variance explained by chromosome (joint) and the whole genome (combined) using 8,901 EA and 2,860 AA individuals.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170692"], "description"=>"<p>Summary statistics of ARIC European ancestry (EA) and African Ancestry (AA) subjects used.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479374, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.t001", "stats"=>{"downloads"=>0, "page_views"=>19, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Summary_statistics_of_ARIC_European_ancestry_EA_and_African_Ancestry_AA_subjects_used_/1479374", "title"=>"Summary statistics of ARIC European ancestry (EA) and African Ancestry (AA) subjects used.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170689"], "description"=>"<p><b>(a)</b> Estimates of the variance explained for SBP (red) and DBP (blue) by functional annotation class (promoter, UTR, DHS, exon, intron, intergenic) by joint analysis using genotyped and imputed SNPs for first-visit SBP and DBP respectively in 8,901 EA individuals, <b>(b)</b> Legend as in <b>(a)</b> but for 2,860 AA individuals.</p>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479371, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0133031.g002", "stats"=>{"downloads"=>1, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Direct_Estimates_of_the_Genomic_Contributions_to_Blood_Pressure_Heritability_within_a_Population_Based_Cohort_ARIC_Fig_2_/1479371", "title"=>"Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC) - Fig 2", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-10 03:44:43"}
  • {"files"=>["https://ndownloader.figshare.com/files/2170697", "https://ndownloader.figshare.com/files/2170698", "https://ndownloader.figshare.com/files/2170699", "https://ndownloader.figshare.com/files/2170700", "https://ndownloader.figshare.com/files/2170701"], "description"=>"<div><p>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.</p></div>", "links"=>[], "tags"=>["aric", "dhs", "BP heritability", "snp", "dbp", "DNaseI hypersensitive sites", "GWAS", "ea", "estimate BP heritability", "htn", "data", "noncoding genomic regions", "sbp", "aa", "African ancestry individuals", "Blood Pressure Heritability"], "article_id"=>1479379, "categories"=>["Biological Sciences"], "users"=>["Elias Salfati", "Alanna C. Morrison", "Eric Boerwinkle", "Aravinda Chakravarti"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0133031.s001", "https://dx.doi.org/10.1371/journal.pone.0133031.s002", "https://dx.doi.org/10.1371/journal.pone.0133031.s003", "https://dx.doi.org/10.1371/journal.pone.0133031.s004", "https://dx.doi.org/10.1371/journal.pone.0133031.s005"], "stats"=>{"downloads"=>6, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Direct_Estimates_of_the_Genomic_Contributions_to_Blood_Pressure_Heritability_within_a_Population_Based_Cohort_ARIC_/1479379", "title"=>"Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-07-10 03:44:43"}

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{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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