SynthesisNature communications2015
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
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In one paragraph
Synthesis in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 6 of them syntheses that pooled it.
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30citing papers in PubMed, 6 pooled it
6.5field-weighted citation impact, top 3% of its field
What it found
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Who cites it
30 citing papers in PubMed, 6 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.Genome biology · 2025Pooled it
- Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.Genome biology · 2022Pooled it
- Pooled it
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.Human molecular genetics · 2017Pooled it
- Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.Journal of medical genetics · 2016Pooled it
- ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.NPJ genomic medicine · 2024Article
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- Identification of key biomarkers related to fibrocartilage chondrocytes for osteoarthritis based on bulk, single-cell transcriptomic data.Frontiers in immunology · 2024Article
- Gender-specific association ofFrontiers in genetics · 2024Article
- A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.Science advances · 2023Article
- Update of a Genetic Risk Score Predictive of the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation in the FAS Study.Nutrients · 2023Article
- Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.Free neuropathology · 2021Article
- The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories.Genome biology and evolution · 2020Article
- Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study.Annals of clinical and translational neurology · 2020Article
- Identification of prognostic and metastasis-related alternative splicing signatures in hepatocellular carcinoma.Bioscience reports · 2020Article
- Candidate Gene Analysis Reveals Strong Association ofFrontiers in genetics · 2020Article
- Article
- Fast and accurate genomic analyses using genome graphs.Nature genetics · 2019Article
Corrections and comments
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Authors and funding
73 authors at 20 institutions in 8 countries.
Elisabeth M van LeeuwenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Lennart C KarssenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Joris DeelenDepartment of Molecular Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Aaron IsaacsDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Carolina Medina-GomezDepartment of Epidemiology and Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Hamdi MbarekDepartment of Biological Psychology, VU University Amsterdam and EMGO+ Institute for Health and Care Research, Amsterdam 1081BT, The Netherlands.
Alexandros KanterakisDepartment of Genetics, Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Stella TrompetDepartment of Cardiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Iris PostmusDepartment of Gerontology and Geriatrics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Niek VerweijDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen 9700 RB, The Netherlands.
David J van EnckevortBioAssist, Netherlands Bioinformatics Center, Nijmegen 6500 HB, The Netherlands.
Jennifer E HuffmanMRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Charles C WhiteDepartment of Biostatistics, Boston U School of Public Health, Boston, Massachusetts 02118, USA.
Mary F FeitosaDepartment of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.
Traci M BartzDepartment of Biostatistics and Medicine, University of Washington, Seattle, Washington 98101, USA.
Ani ManichaikulDepartment of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA.
Peter K JoshiCentre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland EH8 9AG, UK.
Gina M PelosoCenter for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02176, USA.
Patrick DeelenDepartment of Genetics, Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Freerk van DijkDepartment of Genetics, Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Gonneke WillemsenDepartment of Biological Psychology, VU University Amsterdam and EMGO+ Institute for Health and Care Research, Amsterdam 1081BT, The Netherlands.
Eco J de GeusDepartment of Biological Psychology, VU University Amsterdam and EMGO+ Institute for Health and Care Research, Amsterdam 1081BT, The Netherlands.
Yuri MilaneschiDepartment of Psychiatry, VU University Medical Center Amsterdam/GGZinGeest, EMGO+ Institute for Health and Care Research, Neuroscience Campus Amsterdam, Amsterdam 1081HL, The Netherlands.
Brenda W J H PenninxDepartment of Psychiatry, VU University Medical Center Amsterdam/GGZinGeest, EMGO+ Institute for Health and Care Research, Neuroscience Campus Amsterdam, Amsterdam 1081HL, The Netherlands.
Laurent C FrancioliDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
Androniki MenelaouDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
Sara L PulitDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
Fernando RivadeneiraDepartment of Epidemiology and Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Ben A OostraDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Oscar H FrancoDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Irene Mateo LeachDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen 9700 RB, The Netherlands.
Marian BeekmanDepartment of Molecular Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Anton J M de CraenDepartment of Gerontology and Geriatrics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Hae-Won UhDepartment of Genetical Statistics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Holly TrochetMRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Lynne J HockingDivision of Applied Health Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK.
David J PorteousCentre for Genomic and Experimental Medicine, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Naveed SattarBHF Glasgow Cardiovascular Research Centre, Faculty of Medicine, University of Glasgow, Glasgow G12 8QQ, UK.
Chris J PackardInstitute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Brendan M BuckleyDepartment of Pharmacology and Therapeutics, University College Cork, Cork, Ireland.
Jennifer A BrodyDepartment of Medicine, University of Washington, Seattle, Washington 98101, USA.
Joshua C BisDepartment of Medicine, University of Washington, Seattle, Washington 98101, USA.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Josyf C MychaleckyjDepartment of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA.
Harry CampbellCentre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland EH8 9AG, UK.
Qing DuanDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina NC 27599, USA.
Leslie A LangeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina NC 27599, USA.
James F WilsonCentre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland EH8 9AG, UK.
Caroline HaywardMRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Ozren PolasekDepartment of Public Health, Faculty of Medicine, University of Split, Split 21000, Croatia.
Veronique VitartMRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Igor RudanCentre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland EH8 9AG, UK.
Alan F WrightMRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.
Stephen S RichDepartment of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA.
Bruce M PsatyDepartment of Medicine and Epidemiology, University of Washington, Seattle, Washington 98101, USA.
Ingrid B BoreckiDepartment of Genetics and Biostatistics, Washington University School of Medicine, St Louis, Missouri 63108, USA.
Patricia M KearneyDepartment of Pharmacology and Therapeutics, University College Cork, Cork, Ireland.
David J StottInstitute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
L Adrienne Cupples1] Department of Biostatistics, Boston U School of Public Health, Boston, Massachusetts 02118, USA [2] Framingham Heart Study, Framingham, Massachusetts 01702, USA.
Genome of The Netherlands Consortium
J Wouter JukemaDepartment of Cardiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Pim van der HarstDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen 9700 RB, The Netherlands.
Eric J SijbrandsDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Jouke-Jan HottengaDepartment of Biological Psychology, VU University Amsterdam and EMGO+ Institute for Health and Care Research, Amsterdam 1081BT, The Netherlands.
Andre G UitterlindenDepartment of Epidemiology and Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Morris A SwertzDepartment of Genetics, Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Gert-Jan B van OmmenDepartment of Human Genetics, Leiden University Medical Center, Leiden P.O. Box 9600, 2300 RC, The Netherlands.
Paul I W de Bakker1] Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands [2] Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
P Eline SlagboomDepartment of Molecular Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Dorret I BoomsmaDepartment of Biological Psychology, VU University Amsterdam, Amsterdam 1081BT, The Netherlands.
Cisca WijmengaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Leiden University Medical Center · NLErasmus MC · NLUniversity Medical Center Groningen · NLUniversity Medical Center Utrecht · NLAmsterdam Public Health · NLBGI Group (China) · CNInstitute of Genetics and Cancer · GBUniversity of Washington · USGlasgow Centre for Population Health · GBBroad Institute · USPfizer (United States) · USUniversity of Glasgow · GBUtrecht University · NLVirginia Department of Health · USWashington University in St. Louis · USAmsterdam Neuroscience · NLBGI Europe (Denmark) · DKBoston University · USCentrum Wiskunde & Informatica · NLColumbia University · US
Funding
NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MCTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MInstitutional Career Development CoreKL2TR001874 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GENKINGER, JEANINE M., SHIMBO, DAICHI · 2016 to 2025
$13.6MMulti-Ethnic Study of Atherosclerosis (MESA) StudyR01HL071205 · NHLBI · CEDARS-SINAI MEDICAL CENTER · PI ROTTER, JEROME I · 2003 to 2007
$10.4MExceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MIntegration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5MCHS Events Follow-up StudyR01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2009 to 2014
$6.3MFHS-SCAN Genome Wide Association Scan for Atherosclerosis Pathway GenesR01HL087700 · NHLBI · WASHINGTON UNIVERSITY · PI PROVINCE, MICHAEL A. · 2006 to 2008
$5.4MProspective meta-analyses of drug-gene interactions: CHARGE GWAS consortiumR01HL103612 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2011 to 2014
$5.4MChief Scientist Office CZD/16/6Chief Scientist Office CZD/16/6/4European Research Council 284167Medical Research Council MC_PC_U127561128NCATS NIH HHS KL2 TR001874NCATS NIH HHS UL1 TR000124NCRR NIH HHS RR-024156NCRR NIH HHS UL1 RR024156NHLBI NIH HHS 5R01HL08770003NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HL080295NHLBI NIH HHS HL087652NHLBI NIH HHS HL103612NHLBI NIH HHS HL105756NHLBI NIH HHS HL-54776NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS N01HC85080NHLBI NIH HHS N01-HC-95159NHLBI NIH HHS N01-HC-95160NHLBI NIH HHS N01-HC-95161NHLBI NIH HHS N01-HC-95162NHLBI NIH HHS N01-HC-95163NHLBI NIH HHS N01-HC-95164NHLBI NIH HHS N01-HC-95165NHLBI NIH HHS N01-HC-95166NHLBI NIH HHS N01-HC-95167NHLBI NIH HHS N01-HC-95168NHLBI NIH HHS N01-HC-95169NHLBI NIH HHS N02-HL-6-4278NHLBI NIH HHS N02.HL.6.4278NHLBI NIH HHS R01 HL054776NHLBI NIH HHS R01 HL071051NHLBI NIH HHS R01HL071051NHLBI NIH HHS R01 HL071205NHLBI NIH HHS R01HL071205NHLBI NIH HHS R01 HL071250NHLBI NIH HHS R01HL071250NHLBI NIH HHS R01 HL071251NHLBI NIH HHS R01HL071251NHLBI NIH HHS R01 HL071252NHLBI NIH HHS R01HL071252NHLBI NIH HHS R01 HL071258NHLBI NIH HHS R01HL071258NHLBI NIH HHS R01 HL071259NHLBI NIH HHS R01HL071259NHLBI NIH HHS R01 HL080295NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL087700NHLBI NIH HHS R01-HL-087700NHLBI NIH HHS R01 HL088215NHLBI NIH HHS R01-HL-088215NHLBI NIH HHS R01 HL103612NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117078NHLBI NIH HHS U01 HL080295NIA NIH HHS AG023629NIA NIH HHS R01 AG023629NIA NIH HHS R56 AG023629NICHD NIH HHS R01 HD042157NICHD NIH HHS R01 HD042157-01A1NIDDK NIH HHS 5R01DK06833603NIDDK NIH HHS 5R01DK07568102NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK089256NIMH NIH HHS 1RC2 MH089951NIMH NIH HHS 1RC2 MH089995NIMH NIH HHS MH081802NIMH NIH HHS R01 MH081802NIMH NIH HHS RC2 MH089951NIMH NIH HHS RC2 MH089995NIMH NIH HHS U24 MH068457NIMH NIH HHS U24 MH068457-06NLM NIH HHS 2R01LM010098NLM NIH HHS R01 LM010098PHS HHS HHSN268200960009CWellcome Trust 095831
Abstract
Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (~35,000 samples) with the population-specific reference panel created by the Genome of The Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value <6.61 × 10(-4)), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect (βLDL-C=0.135, βTC=0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR.
Indexed as
ATP-Binding Cassette TransportersCholesterolGene FrequencyGenetic Association StudiesHumansMutation, MissenseNetherlandsABCA6 protein, humanATP-Binding Cassette TransportersCholesterol
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