Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations

The GWAS Diversity Monitor tracks diversity by disease in real time

(2020) Melinda C. Mills et al.   NATURE GENETICS

Evaluating the promise of inclusion of African ancestry populations in genomics

(2020) Amy R. Bentley et al.   npj Genomic Medicine

Integrating Genomics into Healthcare: A Global Responsibility

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score

(2019) Suna Onengut-Gumuscu et al.   DIABETES CARE

A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia

(2019) Sophie E. Legge et al.   MOLECULAR PSYCHIATRY

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

(2019) Michelle Daya et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population

(2019) Ken Suzuki et al.   NATURE GENETICS

The Emergence of Genomic Research in Africa and New Frameworks for Equity in Biomedical Research

(2019) Amy R. Bentley et al.   ETHNICITY & DISEASE

Defining and Achieving Health Equity in Genomic Medicine

(2019) Sonya Jooma et al.   ETHNICITY & DISEASE

Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk

(2019) A. C. Palk et al.   Philosophy Ethics and Humanities in Medicine

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

On the utilization of polygenic risk scores for therapeutic targeting

(2019) Greg Gibson   PLoS Genetics

Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations

(2019) George A. Mensah et al.   CIRCULATION RESEARCH

Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan

(2019) Robert L. Hanson et al.   DIABETOLOGIA

A Vietnamese human genetic variation database

(2019) Vinh S. Le et al.   HUMAN MUTATION

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

GRAF-pop: A Fast Distance-Based Method To Infer Subject Ancestry from Multiple Genotype Datasets Without Principal Components Analysis

(2019) Yumi Jin et al.   G3-Genes Genomes Genetics

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

(2019) Chloé Sarnowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies

(2019) Huaying Fang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Screening Human Embryos for Polygenic Traits Has Limited Utility

(2019) Ehud Karavani et al.   CELL

Comparative genetic architectures of schizophrenia in East Asian and European populations

(2019) Max Lam et al.   NATURE GENETICS

Dissecting racial bias in an algorithm used to manage the health of populations

(2019) Ziad Obermeyer et al.   SCIENCE

Genomic Prediction of 16 Complex Disease Risks Including Heart Attack, Diabetes, Breast and Prostate Cancer

(2019) Louis Lello et al.   Scientific Reports

Genotype Imputation from Large Reference Panels

(2018) Sayantan Das et al.   Annual Review of Genomics and Human Genetics

Genetics of HbA1c: a case study in clinical translation

(2018) Aaron Leong et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Differences in Obesity Prevalence by Demographic Characteristics and Urbanization Level Among Adults in the United States, 2013-2016

(2018) Craig M. Hales et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Change in Cardiometabolic Risk Among Blacks, Whites, and Hispanics: Findings From the Health and Retirement Study

(2018) Uchechi A Mitchell et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

(2018) Laura M. Raffield et al.   PLoS Genetics

Cardiovascular disease: The rise of the genetic risk score

(2018) Joshua W. Knowles et al.   PLOS MEDICINE

Association of Sickle Cell Trait With Ischemic Stroke Among African Americans

(2018) Hyacinth I. Hyacinth et al.   JAMA Neurology

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

(2018) Yan Zhang et al.   NATURE GENETICS

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine

(2018) Lucia A Hindorff et al.   Personalized Medicine

OUP accepted manuscript

(2018)   SCHIZOPHRENIA BULLETIN

To overcome decades of mistrust, a workshop aims to train Indigenous researchers to be their own genome experts

(2018) Lizzie Wade   SCIENCE

Generalizing polygenic risk scores from Europeans to Hispanics/Latinos

(2018) Kelsey E. Grinde et al.   GENETIC EPIDEMIOLOGY

Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults

(2018) Amber Dahlin et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

(2018) Ayush Giri et al.   NATURE GENETICS

PCSK9 inhibitors: clinical evidence and implementation

(2018) Marc S. Sabatine   Nature Reviews Cardiology

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

(2018) Andrew P. Morris et al.   Nature Communications

A meta-analysis of genome-wide association studies of asthma in Puerto Ricans

(2017) Qi Yan et al.   EUROPEAN RESPIRATORY JOURNAL

Multiethnic polygenic risk scores improve risk prediction in diverse populations

(2017) Carla Márquez-Luna et al.   GENETIC EPIDEMIOLOGY

Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

(2017) Jennifer L Caswell-Jin et al.   GENETICS IN MEDICINE

The current state of implementation science in genomic medicine: opportunities for improvement

(2017) Megan C. Roberts et al.   GENETICS IN MEDICINE

Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations

(2017) Christy L. Avery et al.   HEART RHYTHM

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci

(2017) Lindsay Fernández-Rhodes et al.   HUMAN GENETICS

Association of Sickle Cell Trait With Hemoglobin A1c in African Americans

(2017) Mary E. Lacy et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Sickle Cell Trait and the Risk of ESRD in Blacks

(2017) Rakhi P. Naik et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Prioritizing diversity in human genomics research

(2017) Lucia A. Hindorff et al.   NATURE REVIEWS GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Trans -ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus

(2017) Maren E. Cannon et al.   G3-Genes Genomes Genetics

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

(2017) Eleanor Wheeler et al.   PLOS MEDICINE

APOL1 renal risk variants have contrasting resistance and susceptibility associations with African trypanosomiasis

(2017) Anneli Cooper et al.   eLife

Hypertension in African Americans

(2017) Nomsa Musemwa et al.   Current Cardiology Reports

Human ancestry correlates with language and reveals that race is not an objective genomic classifier

(2017) Jennifer L. Baker et al.   Scientific Reports

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

(2016) Nathalie Chami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ethical, Legal, and Social Implications of Personalized Genomic Medicine Research: Current Literature and Suggestions for the Future

(2016) Shawneequa L. Callier et al.   BIOETHICS

Elevated D-dimer levels in African Americans with sickle cell trait

(2016) R. P. Naik et al.   BLOOD

The effect of communicating the genetic risk of cardiometabolic disorders on motivation and actual engagement in preventative lifestyle modification and clinical outcome: a systematic review and meta-analysis of randomised controlled trials

(2016) Sherly X. Li et al.   BRITISH JOURNAL OF NUTRITION

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk EstimatesCLINICAL PERSPECTIVE

(2016) Iftikhar J. Kullo et al.   CIRCULATION

Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank

(2016) Wei Gan et al.   DIABETOLOGIA

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

The Precision Medicine Initiative’s All of Us Research Program: an agenda for research on its ethical, legal, and social issues

(2016) Pamela L. Sankar et al.   GENETICS IN MEDICINE

Understanding associations among race, socioeconomic status, and health: Patterns and prospects.

(2016) David R. Williams et al.   HEALTH PSYCHOLOGY

Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci

(2016) Niha Zubair et al.   HUMAN MOLECULAR GENETICS

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Sex Differences in Cardiometabolic Risk Factors among Hispanic/Latino Youth

(2016) Carmen R. Isasi et al.   JOURNAL OF PEDIATRICS

Association between air pollution and coronary artery calcification within six metropolitan areas in the USA (the Multi-Ethnic Study of Atherosclerosis and Air Pollution): a longitudinal cohort study

(2016) Joel D Kaufman et al.   LANCET

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

(2016) Praveen Surendran et al.   NATURE GENETICS

A thrifty variant in CREBRF strongly influences body mass index in Samoans

(2016) Ryan L Minster et al.   NATURE GENETICS

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

(2016) Thomas J Hoffmann et al.   NATURE GENETICS

Will Precision Medicine Move Us beyond Race?

(2016) Vence L. Bonham et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array

(2016) Stephanie A. Bien et al.   PLoS One

Race Is a Key Variable in Assigning Lipoprotein(a) Cutoff Values for Coronary Heart Disease Risk AssessmentSignificance

(2015) Weihua Guan et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Lipoprotein-associated phospholipase A2 and risk of incident cardiovascular disease in a multi-ethnic cohort: The multi ethnic study of atherosclerosis

(2015) Parveen K. Garg et al.   ATHEROSCLEROSIS

Coagulation activation in sickle cell trait: an exploratory study

(2015) Chirag Amin et al.   BRITISH JOURNAL OF HAEMATOLOGY

Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness

(2015) Matthew P. Conomos et al.   GENETIC EPIDEMIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

The Hawaii clopidogrel lawsuit: the possible effect on clinical laboratory testing

(2015) Alan HB Wu et al.   Personalized Medicine

Ethical, legal and social implications of incorporating personalized medicine into healthcare

(2015) Kyle B Brothers et al.   Personalized Medicine

Greenlandic Inuit show genetic signatures of diet and climate adaptation

(2015) M. Fumagalli et al.   SCIENCE

APOL1 Kidney Disease Risk Variants: An Evolving Landscape

(2015) Patrick D. Dummer et al.   SEMINARS IN NEPHROLOGY

Prospective study of plasma D-dimer and incident venous thromboembolism: The Atherosclerosis Risk in Communities (ARIC) Study

(2015) Aaron R. Folsom et al.   THROMBOSIS RESEARCH

Perspectives on Human Variation through the Lens of Diversity and Race: Figure 1.

(2015) Aravinda Chakravarti   Cold Spring Harbor Perspectives in Biology

Genetic Association Analysis under Complex Survey Sampling: The Hispanic Community Health Study/Study of Latinos

(2014) Dan-Yu Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trends In The Black-White Life Expectancy Gap Among US States, 1990–2009

(2014) Sam Harper et al.   HEALTH AFFAIRS

Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans

(2014) Jaclyn Ellis et al.   HUMAN GENETICS

Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans

(2014) Rakhi P. Naik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Impact of the 1425G/A Polymorphism of PRKCH on the Recurrence of Ischemic Stroke: Fukuoka Stroke Registry

(2014) Ryu Matsuo et al.   Journal of Stroke & Cerebrovascular Diseases

Prospective study of sickle cell trait and venous thromboembolism incidence

(2014) A. R. Folsom et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

(2014) Anders Berg Jørgensen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Cardiovascular Disease Risk Factors in the Hispanic/Latino Population: Lessons From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

(2014) Martha L. Daviglus et al.   PROGRESS IN CARDIOVASCULAR DISEASES

Enabling the genomic revolution in Africa

(2014) et al.   SCIENCE

Sickle Cell Trait and Incident Ischemic Stroke in the Atherosclerosis Risk in Communities Study

(2014) Melissa C. Caughey et al.   STROKE

Personalized Medicine and Human Genetic Diversity

(2014) Y.-F. Lu et al.   Cold Spring Harbor Perspectives in Medicine

SNP ascertainment bias in population genetic analyses: Why it is important, and how to correct it

(2013) Joseph Lachance et al.   BIOESSAYS

Ethical and legal implications of whole genome and whole exome sequencing in African populations

(2013) Galen EB Wright et al.   BMC Medical Ethics

The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium as a Model of Collaborative Science

(2013) Bruce M. Psaty et al.   EPIDEMIOLOGY

Methylomics of gene expression in human monocytes

(2013) Yongmei Liu et al.   HUMAN MOLECULAR GENETICS

Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

(2013)   NATURE

APOL1 Risk Variants, Race, and Progression of Chronic Kidney Disease

(2013) Afshin Parsa et al.   NEW ENGLAND JOURNAL OF MEDICINE

Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study

(2013) Christopher S. Carlson et al.   PLOS BIOLOGY

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children

(2012) Andy Boyd et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

Black African immigrant community leaders' views on participation in genomics research and DNA biobanking

(2012) Aaron G. Buseh et al.   NURSING OUTLOOK

Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations

(2012) Clara C. Elbers et al.   PLoS One

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

G6PD Deficiency Prevalence and Estimates of Affected Populations in Malaria Endemic Countries: A Geostatistical Model-Based Map

(2012) Rosalind E. Howes et al.   PLOS MEDICINE

Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record

(2011) Keyue Ding et al.   BMC Cardiovascular Disorders

Comparing self-reported ethnicity to genetic background measures in the context of the Multi-Ethnic Study of Atherosclerosis (MESA)

(2011) Jasmin Divers et al.   BMC GENETICS

China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up

(2011) Z. Chen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population

(2011) Anna Alkelai et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy

(2011) J. B. Kopp et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Association between 1425G/A SNP in PRKCH and ischemic stroke among Chinese and Japanese populations: A meta-analysis including 3686 cases and 4589 controls

(2011) Jiaoxing Li et al.   NEUROSCIENCE LETTERS

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sickle-Cell Trait: Novel Clinical Significance

(2011) N. S. Key et al.   Hematology-American Society of Hematology Education Program

Inferring Genetic Ancestry: Opportunities, Challenges, and Implications

(2010) Charmaine D. Royal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Design and Implementation of the Hispanic Community Health Study/Study of Latinos

(2010) Paul D. Sorlie et al.   ANNALS OF EPIDEMIOLOGY

Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways

(2010) N. Soranzo et al.   DIABETES

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research

(2010) Joan H. Fujimura et al.   SOCIAL STUDIES OF SCIENCE

Genome-Wide Association Study Identifies ALDH7A1 as a Novel Susceptibility Gene for Osteoporosis

(2010) Yan Guo et al.   PLoS Genetics

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Evidence that two main bottleneck events shaped modern human genetic diversity

(2009) W. Amos et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Large Allele Frequency Differences between Human Continental Groups are more Likely to have Occurred by Drift During range Expansions than by Selection

(2008) T. Hofer et al.   ANNALS OF HUMAN GENETICS

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

(2008) Michael C. Campbell et al.   Annual Review of Genomics and Human Genetics

Association between PRKCH gene polymorphisms and subcortical silent brain infarction

(2008) M. Serizawa et al.   ATHEROSCLEROSIS

Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol

(2008) Latisha Love-Gregory et al.   HUMAN MOLECULAR GENETICS

Coronary Calcium as a Predictor of Coronary Events in Four Racial or Ethnic Groups

(2008) Robert Detrano et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE