Evidence map›Paper›PMID 30307499›Full record

ArticleHuman molecular genetics2019

Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

Linda M Polfus, Laura M Raffield, Marsha M Wheeler, Russell P Tracy, Leslie A Lange, Guillaume Lettre, Amanda Miller, Adolfo Correa, Russell P Bowler, Joshua C Bis and 16 more

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.6field-weighted citation impact, top 18% 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

11 citing papers in PubMed, 17 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

26 authors at 14 institutions in 2 countries.

Linda M PolfusCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Marsha M WheelerDepartment of Genome Sciences, University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Russell P TracyDepartment of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA.
Leslie A LangeDepartment of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
Guillaume LettreDepartment of Medicine, Université de Montréal, Montréal, QC, Canada.
Amanda MillerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
Adolfo CorreaDepartment of Pediatrics and Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Russell P BowlerDepartment of Medicine, National Jewish Health, Denver, CO, USA.
Joshua C BisCardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.
Shabnam SalimiSchool of Medicine, University of Maryland, Baltimore, MD, USA.
Nancy Swords JennyDepartment of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA.
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
Biqi WangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Michael H PreussCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lisheng ZhouCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Arden MoscatiCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Girish N NadkarniCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Xue ZhongVanderbilt Genetics Institute, Nashville, TN, USA.
Bingshan LiVanderbilt Genetics Institute, Nashville, TN, USA.
Jill M JohnsenBloodworks Northwest Research Institute, Seattle, WA, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Alex P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, USA.
Paul L AuerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
NHLBI Trans-Omics for Precision Medicine Consortium
University of Washington · USIcahn School of Medicine at Mount Sinai · USUniversity of Vermont · USUniversity of Wisconsin–Milwaukee · USBoston University · USChild Health and Development Institute · USJackson Memorial Hospital · USMontreal Heart Institute · CANational Jewish Health · USUniversity of Colorado Anschutz Medical Campus · USUniversity of Maryland, Baltimore · USUniversity of Minnesota · USUniversity of North Carolina at Chapel Hill · USUniversity of Southern California · US

Funding

Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Hispanic Latino Lipid ConsortiumR01HL142302 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jennifer Below, JOSEPH MCCORMICK · 2018 to 2026
$5.8M
The Genetic Epidemiology of Heart, Lung, and Blood TraitsTraining Grant (GenHLB)T32HL129982 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Christy Leigh Avery, KAREN L. MOHLKE · 2016 to 2026
$3.8M
Diverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5M
Thrombosis genetics in African AmericansR01HL132947 · NHLBI · UNIVERSITY OF WASHINGTON · PI LANGE, LESLIE A, REINER, ALEXANDER P · 2017 to 2020
$3.1M
Study of coding variants in human obesity and their functional characterization using human iPSC-derived cellular modelsR01DK110113 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2016 to 2020
$2.8M
Search for obesity-associated genes with protective effects on metabolic healthR01DK107786 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2017 to 2020
$2.3M
PAGE III: Population Architecture using Genomics and EpidemiologyR56HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, HAIMAN, CHRISTOPHER ALAN · 2018 to 2018
$1.0M
DNA methylation markers of Multimorbidity in Aging Humans and MiceK01AG059898 · NIA · UNIVERSITY OF WASHINGTON · PI SALIMI, SHABNAM · 2019 to 2023
$613k
FHCRC High-Performance Computing ClusterS10OD020069 · OD · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2015 to 2015
$600k
NHGRI NIH HHS U01 HG007417NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201300046CNHLBI NIH HHS HHSN268201300047CNHLBI NIH HHS HHSN268201300048CNHLBI NIH HHS HHSN268201300049CNHLBI NIH HHS HHSN268201300050CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL132947NHLBI NIH HHS R01 HL142302NHLBI NIH HHS T32 HL129982NIA NIH HHS K01 AG059898NIDDK NIH HHS R01 DK107786NIDDK NIH HHS R01 DK110113NIH HHS S10 OD020069
6 · The paper itself

Abstract

E-selectin mediates the rolling of circulating leukocytes during inflammatory processes. Previous genome-wide association studies in European and Asian individuals have identified the ABO locus associated with E-selectin levels. Using Trans-Omics for Precision Medicine whole genome sequencing data in 2249 African Americans (AAs) from the Jackson Heart Study, we examined genome-wide associations with soluble E-selectin levels. In addition to replicating known signals at ABO, we identified a novel association of a common loss-of-function, missense variant in Fucosyltransferase 6 (FUT6; rs17855739,p.Glu274Lys, P = 9.02 × 10-24) with higher soluble E-selectin levels. This variant is considerably more common in populations of African ancestry compared to non-African ancestry populations. We replicated the association of FUT6 p.Glu274Lys with higher soluble E-selectin in an independent population of 748 AAs from the Women's Health Initiative and identified an additional pleiotropic association with vitamin B12 levels. Despite the broad role of both selectins and fucosyltransferases in various inflammatory, immune and cancer-related processes, we were unable to identify any additional disease associations of the FUT6 p.Glu274Lys variant in an electronic medical record-based phenome-wide association scan of over 9000 AAs.

Indexed as

AdultBlack or African AmericanE-SelectinFemaleFucosyltransferasesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideWhole Genome SequencingE-SelectinFucosyltransferasesFUT6 protein, humanSELE protein, human

Identifiers

PMID30307499
PMCPMC6337694
OpenAlexW2896230292

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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.