Evidence map›Paper›PMID 30671673›Full record

ArticleHuman genetics2019

Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.

Karen Y He, Xiaoyin Li, Tanika N Kelly, Jingjing Liang, Brian E Cade, Themistocles L Assimes, Lewis C Becker, Amber L Beitelshees, Adam P Bress, Yen-Pei Christy Chang and 44 more

Open access · greenAbstract read
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In one paragraph

Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
3.6field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 31 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

54 authors at 20 institutions in 1 country.

Karen Y HeDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.
Xiaoyin LiDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.
Tanika N KellyDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.
Jingjing LiangDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.
Brian E CadeDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.
Themistocles L AssimesDepartment of Medicine, Stanford University, Palo Alto, CA, 94305, USA.
Lewis C BeckerGeneSTAR Research Program, Divisions of Cardiology and General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Amber L BeitelsheesProgram for Personalized and Genomic Medicine, Division of Endocrinology Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Adam P BressDepartment of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT, 84132, USA.
Yen-Pei Christy ChangProgram for Personalized and Genomic Medicine, Division of Endocrinology Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Yii-Der Ida ChenDepartments of Pediatrics and Medicine, Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
Paul S de VriesDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
Ervin R FoxDivision of Cardiovascular Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
Nora FranceschiniDepartment of Epidemiology, UNC Gillings School of Global Public Health, Chapel Hill, NC, 27599, USA.
Anna FurnissJackson Heart Study, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
Yan GaoDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
Xiuqing GuoDepartments of Pediatrics and Medicine, Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
Jeffrey HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.
Shih-Jen HwangBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
Marguerite Ryan IrvinDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AB, 35294, USA.
Rita R KalyaniGeneSTAR Research Program, Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Ching-Ti LiuBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
Chunyu LiuBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
Lisa Warsinger MartinDivision of Cardiology, Department of Medicine, George Washington University, Washington, DC, 20052, USA.
May E MontasserProgram for Personalized and Genomic Medicine, Division of Endocrinology Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Paul M MuntnerDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AB, 35294, USA.
Stanford MwasongweJackson Heart Study, Jackson State University, Jackson, MS, 39217, USA.
Walter PalmasDivision of General Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
Alex P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, 98195, USA.
Daichi ShimboDivision of General Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, 48109, USA.
Beverly M SnivelyDepartment of Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, 27101, USA.
Lisa R YanekGeneSTAR Research Program, Division of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Eric BoerwinkleDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
Adolfo CorreaJackson Heart Study, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
L Adrienne CupplesBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
Jiang HeDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, 48109, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.
Rasika A MathiasGeneSTAR Research Program, Divisions of Allergy and Clinical Immunology and General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Braxton D MitchellProgram for Personalized and Genomic Medicine, Division of Endocrinology Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, 98195, USA.
Ramachandran S VasanBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
D C RaoDivision of Biostatistics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.
Jerome I RotterDepartments of Pediatrics and Medicine, Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group
Aravinda ChakravartiDepartment of Medicine, Center for Human Genetics and Genomics, New York University Langone Health, New York, NY, 10016, USA.
Alanna C MorrisonDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
Daniel LevyBoston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
Donna K ArnettUniversity of Kentucky College of Public Health, Lexington, KY, 40508, USA.
Susan RedlineDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.
Xiaofeng ZhuDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. xxz10@case.edu.
Case Western Reserve University · USUniversity of Maryland, Baltimore · USUniversity of Mississippi Medical Center · USFramingham Heart Study · USColumbia University Irving Medical Center · USFred Hutch Cancer Center · USJohns Hopkins Medicine · USJohns Hopkins University · USNational Heart Lung and Blood Institute · USThe Lundquist Institute · USThe University of Texas Health Science Center at Houston · USTulane University · USUniversity of Alabama at Birmingham · USUniversity of Michigan–Ann Arbor · USBaylor College of Medicine · USBrigham and Women's Hospital · USCircadian (United States) · USGeorge Washington University · USJackson Memorial Hospital · USJackson State University · US

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Framingham Project/LevyZIAHL006001 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI LEVY, DANIEL · 2009 to 2025
$51.1M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Tracking and Evaluation CoreU54GM115428 · NIGMS · UNIVERSITY OF MISSISSIPPI MED CTR · PI JONES, ALAN E · 2016 to 2025
$38.2M
ZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI MARSH, LAURA · 1985 to 2007
$37.3M
Wake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3M
Role of obesity in preeclamptic pregnancy.P20GM121334 · NIGMS · UNIVERSITY OF MISSISSIPPI MED CTR · PI Babbette LaMarca, Jane F Reckelhoff · 2017 to 2026
$26.4M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NCRR NIH HHS M01 RR000052NHGRI NIH HHS HG003054NHGRI NIH HHS R01 HG003054NHGRI NIH HHS R01 HG011052NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268201800015INHLBI NIH HHS HL086694NHLBI NIH HHS HL113338NHLBI NIH HHS K01 HL133468NHLBI NIH HHS K01 HL135405NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL049762NHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL071025NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL087263NHLBI NIH HHS R01 HL087660NHLBI NIH HHS R01 HL087698NHLBI NIH HHS R01 HL088119NHLBI NIH HHS R01 HL088120NHLBI NIH HHS R01 HL090682NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL098433NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL119443NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL121007NHLBI NIH HHS R35 HL135818NHLBI NIH HHS T32 HL007567NHLBI NIH HHS U01 HL054457NHLBI NIH HHS U01 HL054464NHLBI NIH HHS U01 HL054481NHLBI NIH HHS U01 HL072507NHLBI NIH HHS U01 HL072515NHLBI NIH HHS U01 HL072518NHLBI NIH HHS U10 HL054457NHLBI NIH HHS U10 HL054464NHLBI NIH HHS U10 HL054481NIA NIH HHS R01 AG018728NIDDK NIH HHS P30 DK063491NIDDK NIH HHS P30 DK072488NIDDK NIH HHS P30 DK079626NIDDK NIH HHS R01 DK117445NIDDK NIH HHS T32 DK091317NIGMS NIH HHS P20 GM121334NIGMS NIH HHS U54 GM115428NIMHD NIH HHS R01 MD012765
6 · The paper itself

Abstract

In this study, we investigated low-frequency and rare variants associated with blood pressure (BP) by focusing on a linkage region on chromosome 16p13. We used whole genome sequencing (WGS) data obtained through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program on 395 Cleveland Family Study (CFS) European Americans (CFS-EA). By analyzing functional coding variants and non-coding rare variants with CADD score > 10 residing within the chromosomal region in families with linkage evidence, we observed 25 genes with nominal statistical evidence (burden or SKAT p < 0.05). One of the genes is RBFOX1, an evolutionarily conserved RNA-binding protein that regulates tissue-specific alternative splicing that we previously reported to be associated with BP using exome array data in CFS. After follow-up analysis of the 25 genes in ten independent TOPMed studies with individuals of European, African, and East Asian ancestry, and Hispanics (N = 29,988), we identified variants in SLX4 (p = 2.19 × 10

Indexed as

ExomeGenetic LinkageGenetic VariationGenome, HumanHigh-Throughput Nucleotide SequencingAlternative SplicingBlood PressureChromosomes, Human, Pair 16FemaleFollow-Up StudiesGenome-Wide Association StudyHumansMaleRecombinasesRNA Splicing FactorsRBFOX1 protein, humanRecombinasesRNA Splicing FactorsSLX4 protein, human

Identifiers

PMID30671673
PMCPMC6404531
OpenAlexW2913822366

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.