ArticleAnnals of the rheumatic diseases2016
Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
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Article in Annals of the rheumatic diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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7citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 15% of its field
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- The 330 risk loci known for systemic lupus erythematosus (SLE): a review.Frontiers in lupus · 2024Article
- SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond.Cells · 2019Review
- The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.Current rheumatology reports · 2019Review
- TGF-β1/p53 signaling in renal fibrogenesis.Cellular signalling · 2018Review
- A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease.Journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 7 countries.
Yun DengDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Jian ZhaoDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Daisuke SakuraiDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Andrea L SestakDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Vadim OsadchiyDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Carl D LangefeldDepartment of Biostatistical Sciences, Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Kenneth M KaufmanCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Jennifer A KellyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Judith A JamesArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Michelle A PetriDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Sang-Cheol BaeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Marta E Alarcón-RiquelmeArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA Pfizer-Universidad de Granada-Junta de Andalucía Center for Genomics and Oncological Research, Granada, Spain.
Graciela S AlarcónDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Juan-Manuel AnayaCenter for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia.
Lindsey A CriswellRosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, California, USA.
Barry I FreedmanDepartment of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Diane L KamenDivision of Rheumatology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA.
Gary S GilkesonDivision of Rheumatology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA.
Chaim O JacobDepartment of Medicine, University of Southern California, Los Angeles, California, USA.
Joan T MerrillDepartment of Clinical Pharmacology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Patrick M GaffneyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Kathy Moser SivilsArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Timothy B NiewoldDivision of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, Minnesota, USA.ORCID http://orcid.org/0000-0003-3532-6660
Rosalind Ramsey-GoldmanDivision of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
John D ReveilleDepartment of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston, Houston, Texas, USA.ORCID http://orcid.org/0000-0001-5950-0913
R Hal ScofieldArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA US Department of Veterans Affairs Medical Center, Oklahoma City, Oklahoma, USA.
Anne M StevensDivision of Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, Washington, USA.
Susan A BoackleDivision of Rheumatology, University of Colorado School of Medicine, Aurora, Colorado, USA US Department of Veterans Affairs Medical Center, Denver, Colorado, USA.
Luis M ViláDivision of Rheumatology, Department of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
I I Woong SohnDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Seung LeeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Deh-Ming ChangTaipei Veterans General Hospital, Taipei City, Taiwan.
Yeong Wook SongDepartment of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, and College of Medicine, Medical Research Center, Seoul National University, Seoul, Korea.
Timothy J VyseDivision of Genetics and Molecular Medicine and Immunology, King's College London, London, UK.
John B HarleyCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Elizabeth E BrownDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Jeffrey C EdbergDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Robert P KimberlyDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Rita M CantorDepartment of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Bevra H HahnDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Jennifer M GrossmanDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Betty P TsaoDivision of Rheumatology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
University of California, Los Angeles · USOklahoma Medical Research Foundation · USUniversity of Alabama at Birmingham · USHanyang University Seoul Hospital · KRMedical University of South Carolina · USCincinnati Children's Hospital Medical Center · USUnited States Department of Veterans Affairs · USJohns Hopkins University · USKing's College London · GBMayo Clinic · USNorth Carolina Division of Public Health · USNorthwestern University · USSeattle Children's Hospital · USSeoul National University · KRTaipei Veterans General Hospital · TWThe University of Texas Health Science Center at Houston · USUniversidad del Rosario · COUniversity of California, San Francisco · USUniversity of Oklahoma Health Sciences Center · USUniversity of Puerto Rico, Medical Sciences Campus · PR
Funding
Transform Dissemination and Implementation Science in CTSA ProgramsUL1TR002319 · NCATS · UNIVERSITY OF WASHINGTON · PI John K. Amory · 2017 to 2026
$100.0MEngaging University of California Stakeholders for Biorespository ResearchUL1TR000004 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRANDIS, JENNIFER RUBIN · 2012 to 2015
$78.0MTracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI PAUL G SPICER · 2013 to 2026
$68.2MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MNorthwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MINSTITUTE FOR TRANSLATIONAL HEALTH SCIENCE (UL1): BPCAUL1RR025014 · NCRR · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2007 to 2011
$51.5MColorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0MVirology CoreP30AI028697 · NIAID · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ANTON, PETER A · 1991 to 2018
$39.9MUAB Center for Clinical and Translational Science (CCTS)UL1TR001417 · NCATS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KIMBERLY, ROBERT P. · 2015 to 2018
$31.4MTRANSLATIONAL RESEARCH UNIVERSITY OF CHICAGO: CLINICAL TRIALSUL1RR024999 · NCRR · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2007 to 2011
$25.3MVALIDATING NOVEL GENES IMPLICATED IN LEUKOCYTE CHEMOTAXISP20RR020143 · NCRR · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GAFFNEY, PATRICK M · 2004 to 2011
$21.0MColorado Clinical and Translational Science Institute (UL1)UL1TR000154 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2012 to 2013
$20.4MNCATS NIH HHS U54 TR001018NCATS NIH HHS UL1 TR000004NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR000154NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR001417NCATS NIH HHS UL1 TR001422NCATS NIH HHS UL1 TR002319NCI NIH HHS R01 CA141700NCRR NIH HHS P20 RR020143NCRR NIH HHS UL1 RR024999NCRR NIH HHS UL1 RR025014NCRR NIH HHS UL1 RR029882NCRR NIH HHS UL1 RR033176NIAID NIH HHS K08 AI083790NIAID NIH HHS K24 AI078004NIAID NIH HHS L30 AI071651NIAID NIH HHS P01 AI083194NIAID NIH HHS P30 AI028697NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI063274NIAID NIH HHS R21 AI070304NIAID NIH HHS R37 AI024717NIAID NIH HHS U01 AI101934NIAID NIH HHS U19 AI082714NIAMS NIH HHS K24 AR002138NIAMS NIH HHS N01 AR062277NIAMS NIH HHS P01 AR049084NIAMS NIH HHS P30 AR048311NIAMS NIH HHS P30 AR053483NIAMS NIH HHS P60 AR053308NIAMS NIH HHS P60 AR062755NIAMS NIH HHS P60 AR064464NIAMS NIH HHS R01 AR033062NIAMS NIH HHS R01 AR042460NIAMS NIH HHS R01 AR043274NIAMS NIH HHS R01 AR043727NIAMS NIH HHS R01 AR043814NIAMS NIH HHS R01 AR051545NIAMS NIH HHS R01 AR057172NIAMS NIH HHS R01 AR064820NIAMS NIH HHS R21 AR065626NIAMS NIH HHS RC1 AR058621NIGMS NIH HHS P30 GM103510NIGMS NIH HHS U54 GM104938Wellcome Trust
Abstract
objectivesFollowing up the systemic lupus erythematosus (SLE) genome-wide association studies (GWAS) identification of NMNAT2 at rs2022013, we fine-mapped its 150 kb flanking regions containing NMNAT2 and SMG7 in a 15 292 case-control multi-ancestry population and tested functions of identified variants.
methodsWe performed genotyping using custom array, imputation by IMPUTE 2.1.2 and allele specific functions using quantitative real-time PCR and luciferase reporter transfections. SLE peripheral blood mononuclear cells (PBMCs) were cultured with small interfering RNAs to measure antinuclear antibody (ANA) and cyto/chemokine levels in supernatants using ELISA.
resultsWe confirmed association at NMNAT2 in European American (EA) and Amerindian/Hispanic ancestries, and identified independent signal at SMG7 tagged by rs2702178 in EA only (p=2.4×10
conclusionWe confirmed NMNAT2 and identified independent SMG7 association with SLE. The inverse relationship between levels of the risk allele-associated SMG7 mRNAs and ANA suggested the novel contribution of mRNA surveillance pathway to SLE pathogenesis.
Indexed as
AllelesAmerican Indian or Alaska NativeAntibodies, AntinuclearCarrier ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotyping TechniquesHEK293 CellsHispanic or LatinoHumansLeukocytes, MononuclearLinkage DisequilibriumLupus Erythematosus, SystemicMaleNicotinamide-Nucleotide AdenylyltransferaseAntibodies, AntinuclearCarrier ProteinsNicotinamide-Nucleotide AdenylyltransferaseNMNAT2 protein, humanRNA, MessengerSMG7 protein, humanAutoantibodiesGene PolymorphismSystemic Lupus Erythematosus
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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.