Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

paper Cited Public

Authors: Hoffmann, Thomas J; Ehret, Georg B; Nandakumar, Priyanka; Ranatunga, Dilrini; Schaefer, Catherine; Kwok, Pui-Yan; Iribarren, Carlos; Chakravarti, Aravinda; Risch, Neil
Year: 2017
Journal: Nature genetics
PMID: 27841878
DOI: 10.1038/ng.3715
PMCID: PMC5370207

Figure 1

Project workflow. (a) EHR phenotype extraction for the GERA cohort. (b) GWAS analysis approaches.

Figure 2

Empirical cumulative distribution functions of BP measures (mmHg), stratified by GERA race/ethnicity group and normalized to a 61 year old male with BMI 27kg/m2 for reference, indicated by the vertical dashed line. There were 80,792 non-Hispanic whites, 8,231 Latinos, 7,243 East Asians, 3,058 African Americans, and 461 South Asians.

Figure 3

Novel BP loci detected in GERA and tested for replication in the ICBP+UKB meta-analysis. The two SNPs rs76217164 and rs143118162 failed to impute in ICBP (owing to low allele frequency), and rs141216986 was on the X chromosome and not available in ICBP or UK. We used an additive model. The effect allele is the allele to the left (e.g., A in A/G). Effect sizes are indicated in mmHg. Each line represents the effect size and 95% confidence interval for each group, with the text on top of each line representing the group tested: G, GERA (n=99,785); IU, meta-analysis of the ICBP and UKB (n=221,477); and GIU, meta-analysis of GERA, ICBP, and the UKB (n=321,262). The color of each line indicates the statistical significance of the test: red, P≤10−9; orange, 10−9<P≤5×10−8; green, 5×10−8<P≤0.00067 (Bonferroni correction for 39+36=75 SNPs); blue, 0.00066<P≤0.05; black, P>0.05.

Figure 4

Novel BP loci identified in the GERA+ICBP meta-analysis, and tested for replication in the UKB. We used an additive model. The effect allele is the allele to the left (e.g., A in A/G). Effect sizes are indicated in mmHg. Each line represents the effect size and 95% confidence interval for each group, with the text on top of each line representing the group tested: GI, meta-analysis of GERA and ICBP (n=169,181); U, UK Biobank (n=152,081); and GIU, meta-analysis of GERA, ICBP, and the UKB (n=321,262). The color of each line indicates the statistical significance of the test: red, P≤10−9; orange, 10−9<P≤5×10−8; green, 5×10−8<P≤0.00067 (Bonferroni correction for 39+36=75 SNPs); blue, 0.00066<P≤0.05; black, P>0.05.

Figure 5

Tissue specific expression quantitative trait loci (eQTL) analysis of 51 tissues. The two outlier tissues, accounting for total eQTL count, are labeled. Tissue total eQTL counts vs P-values at (a) the locus and (b) the sentinel variant.

#	Section	Preview
60	Online methods — eQTL enrichment analysis	Enrichment was tested at both the sentinel SNP level and locus level, conceptually similar to…
61	Online methods — DAVID analysis	Annotation of genes surrounding sentinel variants was conducted with DAVID 6.8 beta (non-beta was 6…
62	Online methods — DAVID analysis — Data availability	Data, including all genotype data and information on hypertension status, are available on…

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Identification of genetic loci simultaneously associated with multiple cardiometabolic traits.	Wood AC et al.	—	2022	→
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors.	Carbajosa G et al.	—	2022	→
Including diverse and admixed populations in genetic epidemiology research.	Caliebe A et al.	—	2022	→
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.	Ruotsalainen SE et al.	—	2022	→
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.	Kelly TN et al.	—	2022	→
Kidney omics in hypertension: from statistical associations to biological mechanisms and clinical applications.	Tomaszewski M et al.	—	2022	→
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.	Zhang X et al.	—	2022	→
Large-Scale Multi-Omics Studies Provide New Insights into Blood Pressure Regulation.	Kamali Z et al.	—	2022	→
Life-Course Associations between Blood Pressure-Related Polygenic Risk Scores and Hypertension in the Bogalusa Heart Study.	Sun X et al.	—	2022	→
Observational and Genetic Associations of Modifiable Risk Factors with Aortic Valve Stenosis: A Prospective Cohort Study of 0.5 Million Participants.	Huang N et al.	—	2022	→
Polygenic Risk Scores in Alzheimer's Disease Genetics: Methodology, Applications, Inclusion, and Diversity.	Clark K et al.	—	2022	→
Polymorphisms of hypertension susceptibility genes as a risk factors of preeclampsia in the Caucasian population of central Russia.	Churnosov M et al.	—	2022	→
Shared genetic influences on resting-state functional networks of the brain.	P O F T Guimarães J et al.	—	2022	→
Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.	Yeung MW et al.	—	2022	→
Advances in Genomics Research of Blood Pressure Responses to Dietary Sodium and Potassium Intakes.	Razavi MA et al.	—	2021	→
A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.	Cho SB et al.	—	2021	→
An Academic Clinician's Road Map to Hypertension Genomics: Recent Advances and Future Directions MMXX.	Magavern EF et al.	—	2021	→
Arterial Hypertension: Individual Therapeutic Approaches-From DNA Sequencing to Gender Differentiation and New Therapeutic Targets.	Luca CT et al.	—	2021	→
Association of Genetic Variants With Body-Mass Index and Blood Pressure in Adolescents: A Replication Study.	Goulet D et al.	—	2021	→
Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases.	Li S et al.	—	2021	→
Atrial fibrillation and kidney function: a bidirectional Mendelian randomization study.	Park S et al.	—	2021	→
Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins.	Li Z et al.	—	2021	→
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments.	Wang J et al.	—	2021	→
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Participants.	Castela Forte J et al.	—	2021	→
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci.	Breeze CE et al.	—	2021	→
False discovery rate control in genome-wide association studies with population structure.	Sesia M et al.	—	2021	→
Family SES Is Associated with the Gut Microbiome in Infants and Children.	Lewis CR et al.	—	2021	→
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.	de las Fuentes L et al.	—	2021	→
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.	Traylor M et al.	—	2021	→
Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort.	Richard MA et al.	—	2021	→
Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension.	Kolifarhood G et al.	—	2021	→
Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.	Virani SS et al.	—	2021	→
Heterozygous <i>Nme7</i> Mutation Affects Glucose Tolerance in Male Rats.	Šedová L et al.	—	2021	→
Hypertension genetics past, present and future applications.	Olczak KJ et al.	—	2021	→
Identification of a Novel Locus for Gait Speed Decline With Aging: The Long Life Family Study.	Santanasto AJ et al.	—	2021	→
Identification of Novel Genetic Regulatory Region for Proprotein Convertase FURIN and Interferon Gamma in T Cells.	Ortutay Z et al.	—	2021	→
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure.	Wang H et al.	—	2021	→
Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.	Vaura F et al.	—	2021	→
Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry.	Wenric S et al.	—	2021	→
Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.	Degtyareva AO et al.	—	2021	→
Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.	Abraham G et al.	—	2021	→
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the <i>Nme7</i> Gene.	Šedová L et al.	—	2021	→
Sodium Sensitivity, Sodium Resistance, and Incidence of Hypertension: A Longitudinal Follow-Up Study of Dietary Sodium Intervention.	He J et al.	—	2021	→
Systematic Review of Genomic Associations with Blood Pressure and Hypertension in Populations with African-Ancestry.	Singh S et al.	—	2021	→
The Effect of Alzheimer's Disease-Associated Genetic Variants on Longevity.	Tesi N et al.	—	2021	→
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.	Eales JM et al.	—	2021	→
Analysis of putative cis-regulatory elements regulating blood pressure variation.	Nandakumar P et al.	—	2020	→
A rank-based normalization method with the fully adjusted full-stage procedure in genetic association studies.	Chien LC	—	2020	→
Association between Single Nucleotide Polymorphisms in Cardiovascular Developmental Critical Genes and Hypertension: A Propensity Score Matching Analysis.	Zhao Z et al.	—	2020	→
Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.	Poveda A et al.	—	2020	→
Deciphering Sex-Specific Genetic Architectures Using Local Bayesian Regressions.	Funkhouser SA et al.	—	2020	→
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.	Surendran P et al.	—	2020	→
Genes Regulate Blood Pressure, but "Environments" Cause Hypertension.	Ji LD et al.	—	2020	→
Genetic variants entail type 2 diabetes as an innate immune disorder.	Bandesh K et al.	—	2020	→
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.	Bakker MK et al.	—	2020	→
Heart Disease and Stroke Statistics-2020 Update: A Report From the American Heart Association.	Virani SS et al.	—	2020	→
HisCoM-G×E: Hierarchical Structural Component Analysis of Gene-Based Gene-Environment Interactions.	Choi S et al.	—	2020	→
Identification of Circulating Proteins Associated With Blood Pressure Using Mendelian Randomization.	Thériault S et al.	—	2020	→
Identifying blood pressure loci whose effects are modulated by multiple lifestyle exposures.	Osazuwa-Peters OL et al.	—	2020	→
Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.	Fernández-Rhodes L et al.	—	2020	→
Improved Detection of Potentially Pleiotropic Genes in Coronary Artery Disease and Chronic Kidney Disease Using GWAS Summary Statistics.	Chen H et al.	—	2020	→
Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium.	Polimanti R et al.	—	2020	→
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.	Erzurumluoglu AM et al.	—	2020	→
Polygenic prediction and GWAS of depression, PTSD, and suicidal ideation/self-harm in a Peruvian cohort.	Shen H et al.	—	2020	→
Regulatory Mechanisms of Baicalin in Cardiovascular Diseases: A Review.	Xin L et al.	—	2020	→
Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis.	Rich KA et al.	—	2020	→
Significance of sphingosine-1-phosphate in cardiovascular physiology and pathology.	Jozefczuk E et al.	—	2020	→
Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis.	Knevel R et al.	—	2020	→
A fully adjusted two-stage procedure for rank-normalization in genetic association studies.	Sofer T et al.	—	2019	→
A genome-wide association and replication study of blood pressure in Ugandan early adolescents.	Lule SA et al.	—	2019	→
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.	Sung YJ et al.	—	2019	→
Analysis of polygenic risk score usage and performance in diverse human populations.	Duncan L et al.	—	2019	→
Analysis of the genomic architecture of a complex trait locus in hypertensive rat models links <i>Tmem63c</i> to kidney damage.	Schulz A et al.	—	2019	→
ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.	Zilbermint M et al.	—	2019	→
A Social Determinant of Health May Modify Genetic Associations for Blood Pressure: Evidence From a SNP by Education Interaction in an African American Population.	Hollister BM et al.	—	2019	→
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.	Esteghamat F et al.	—	2019	→
Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.	Wang H et al.	—	2019	→
Computational tools for geroscience.	Kruempel JCP et al.	—	2019	→
Effect of Systolic Blood Pressure on Left Ventricular Structure and Function: A Mendelian Randomization Study.	Hendriks T et al.	—	2019	→
Estimation of DNA contamination and its sources in genotyped samples.	Zajac GJM et al.	—	2019	→
Generality of genomic findings on blood pressure traits and its usefulness in precision medicine in diverse populations: A systematic review.	Kolifarhood G et al.	—	2019	→
Genetic Association Analyses Highlight <i>IL6</i>, <i>ALPL</i>, and <i>NAV1</i> As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.	Thériault S et al.	—	2019	→
Genetic determinants of blood pressure traits are associated with carotid arterial thickening and plaque formation in patients with type 2 diabetes.	Engelbrechtsen L et al.	—	2019	→
Genetics of Blood Pressure Regulation: Possible Paths in the Labyrinth.	Foco L et al.	—	2019	→
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.	Nagtegaal AP et al.	—	2019	→
Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke.	Abraham G et al.	—	2019	→
Heart Disease and Stroke Statistics-2019 Update: A Report From the American Heart Association.	Benjamin EJ et al.	—	2019	→
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.	He KY et al.	—	2019	→
Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated.	Cabrera CP et al.	—	2019	→
Targeting transcriptional control of soluble guanylyl cyclase via NOTCH for prevention of cardiovascular disease.	Rippe C et al.	—	2019	→
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.	Stanaway IB et al.	—	2019	→
The Molecular Genetics of Gordon Syndrome.	Mabillard H et al.	—	2019	→
The Older Finnish Twin Cohort - 45 Years of Follow-up.	Kaprio J et al.	—	2019	→
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.	Giri A et al.	—	2019	→
UK Biobank: opportunities for cardiovascular research.	Littlejohns TJ et al.	—	2019	→
Adjustment for covariates using summary statistics of genome-wide association studies.	Wang T et al.	—	2018	→
Advances in the Genetics of Hypertension: The Effect of Rare Variants.	Russo A et al.	—	2018	→
A large electronic-health-record-based genome-wide study of serum lipids.	Hoffmann TJ et al.	—	2018	→
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.	Hoffmann TJ et al.	—	2018	→
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.	Sung YJ et al.	—	2018	→
A multilocus genetic risk score is associated with arterial stiffness in hypertensive patients: the CARE NORTH study.	Polonis K et al.	—	2018	→
Associations of Combined Genetic and Lifestyle Risks With Incident Cardiovascular Disease and Diabetes in the UK Biobank Study.	Said MA et al.	—	2018	→
Associations of NADPH oxidase-related genes with blood pressure changes and incident hypertension: The GenSalt Study.	Li H et al.	—	2018	→
Bevacizumab-induced hypertension: Clinical presentation and molecular understanding.	Li M et al.	—	2018	→
Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.	Azam AB et al.	—	2018	→
Comparing Ethnicity-Specific Reference Intervals for Clinical Laboratory Tests from EHR Data.	Rappoport N et al.	—	2018	→
Conditional and interaction gene-set analysis reveals novel functional pathways for blood pressure.	de Leeuw CA et al.	—	2018	→
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.	Nandakumar P et al.	—	2018	→
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.	Barbeira AN et al.	—	2018	→
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.	Evangelou E et al.	—	2018	→
Genetic and Environmental Effects on Gene Expression Signatures of Blood Pressure: A Transcriptome-Wide Twin Study.	Huang Y et al.	—	2018	→
Genetic Predisposition to High Blood Pressure and Lifestyle Factors: Associations With Midlife Blood Pressure Levels and Cardiovascular Events.	Pazoki R et al.	—	2018	→
Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women.	Zee RYL et al.	—	2018	→
Heart Disease and Stroke Statistics-2018 Update: A Report From the American Heart Association.	Benjamin EJ et al.	—	2018	→
Human cardiac <i>cis</i>-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants.	Lee D et al.	—	2018	→
Hypertension genetic risk score is associated with burden of coronary heart disease among patients referred for coronary angiography.	Lukács Krogager M et al.	—	2018	→
Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension.	Hemerich D et al.	—	2018	→
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.	Takeuchi F et al.	—	2018	→
Noncoding RNAs in the Regulatory Network of Hypertension.	Wu G et al.	—	2018	→
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.	Feitosa MF et al.	—	2018	→
Pharmacogenomic studies of hypertension: paving the way for personalized antihypertensive treatment.	Eadon MT et al.	—	2018	→
Real World Home Blood Pressure Variability in Over 56,000 Individuals With Nearly 17 Million Measurements.	Kim KI et al.	—	2018	→
Resistant Hypertension: Detection, Evaluation, and Management: A Scientific Statement From the American Heart Association.	Carey RM et al.	—	2018	→
The next generation of precision medicine: observational studies, electronic health records, biobanks and continuous monitoring.	Glicksberg BS et al.	—	2018	→
The use of electronic health records for psychiatric phenotyping and genomics.	Smoller JW	—	2018	→
10 Years of GWAS Discovery: Biology, Function, and Translation.	Visscher PM et al.	—	2017	→
2017 Roadmap for Innovation-ACC Health Policy Statement on Healthcare Transformation in the Era of Digital Health, Big Data, and Precision Health: A Report of the American College of Cardiology Task Force on Health Policy Statements and Systems of Care.	Bhavnani SP et al.	—	2017	→
Admixture mapping in the Hispanic Community Health Study/Study of Latinos reveals regions of genetic associations with blood pressure traits.	Sofer T et al.	—	2017	→
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.	Choquet H et al.	—	2017	→
An Exploration of Gene-Gene Interactions and Their Effects on Hypertension.	Meng Y et al.	—	2017	→
A Review of the Genetics of Hypertension with a Focus on Gene-Environment Interactions.	Waken RJ et al.	—	2017	→
Assessing genetic risk of hypertension at an early age: future research directions.	Wang X et al.	—	2017	→
Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies.	Smith JA et al.	—	2017	→
Genetic effects on gene expression across human tissues.	GTEx Consortium et al.	—	2017	→
Genetic mechanisms of human hypertension and their implications for blood pressure physiology.	Seidel E et al.	—	2017	→
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.	Warren HR et al.	—	2017	→
Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.	Sofer T et al.	—	2017	→
Hypertension reduces soluble guanylyl cyclase expression in the mouse aorta via the Notch signaling pathway.	Rippe C et al.	—	2017	→
Leveraging psychiatric and medical genetics to understand comorbid depression and obesity.	Docherty AR	—	2017	→
Modifiable pathways in Alzheimer's disease: Mendelian randomisation analysis.	Larsson SC et al.	—	2017	→
Molecular Epidemiology of Heart Failure: Translational Challenges and Opportunities.	Smith JG	—	2017	→
New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.	Kraja AT et al.	—	2017	→
Next Steps for Gene Identification in Primary Hypertension Genomics.	Ehret G	—	2017	→
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.	Wain LV et al.	—	2017	→
Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry.	Nandakumar P et al.	—	2017	→
Understanding the role of genetics in hypertension.	Patel RS et al.	—	2017	→