Evidence map›Paper›PMID 24387989›Full record

ArticleAmerican journal of human genetics2014

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

Maureen D Mayes, Lara Bossini-Castillo, Olga Gorlova, José Ezequiel Martin, Xiaodong Zhou, Wei V Chen, Shervin Assassi, Jun Ying, Filemon K Tan, Frank C Arnett and 66 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
128citing papers in PubMed, 12 pooled it
17.3field-weighted citation impact, top 1% 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

128 citing papers in PubMed, 12 syntheses or guidelines pooled it, 204 citations in OpenAlex.

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  10. Transethnic meta-analysis identifiesAnnals of the rheumatic diseases · 2017
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68 more citing papers are in PubMed but not listed here.

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

76 authors at 20 institutions in 9 countries.

Maureen D MayesThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: maureen.d.mayes@uth.tmc.edu.
Lara Bossini-CastilloInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain. Electronic address: larabossc@gmail.com.
Olga GorlovaDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
José Ezequiel MartinInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
Xiaodong ZhouThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Wei V ChenDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Shervin AssassiThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Jun YingDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Filemon K TanThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Frank C ArnettThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
John D ReveilleThe University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Sandra GuerraCentre for Rheumatology, University College London Medical School, London WC1E 6BT, UK.
María TeruelInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
Francisco David CarmonaInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
Peter K GregersenThe Feinstein Institute for Medical Research, North Shore - Long Island Jewish Health System, Manhasset, NY 11030, USA.
Annette T LeeThe Feinstein Institute for Medical Research, North Shore - Long Island Jewish Health System, Manhasset, NY 11030, USA.
Elena López-IsacInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
Eguzkine OchoaInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
Patricia CarreiraDepartment of Rheumatology, Hospital Universitario 12 de Octubre, Madrid 28041, Spain.
Carmen Pilar SimeónDepartment of Internal Medicine, Hospital Valle de Hebrón, Barcelona 08035, Spain.
Iván CastellvíDepartment of Rheumatology, Hospital de la Santa Creu i Sant Pau, Barcelona 08025, Spain.
Miguel Ángel González-GayDepartment of Rheumatology, Hospital Universitario Marqués de Valdecilla, Instituto de Formación e Investigación Marqués de Valdecilla, Santander 39008, Spain.
Spanish Scleroderma Group
Alexandra ZhernakovaDepartment of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
Leonid PadyukovRheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institute, 171 76 Stockholm, Sweden.
Marta Alarcón-RiquelmeÁrea de Variabilidad del ADN Humano, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica, Granada 18016, Spain; Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Cisca WijmengaDepartment of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
Matthew BrownUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD 4072, Australia.
Lorenzo BerettaReferral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan 20122, Italy.
Gabriela RiemekastenDepartment of Rheumatology and Clinical Immunology, Charité University Hospital, Berlin 10117, Germany.
Torsten WitteDepartment of Clinical Immunology, Hannover Medical School, Hannover 30625, Germany.
Nicolas HunzelmannDepartment of Dermatology, University of Cologne, Cologne 50924, Germany.
Alexander KreuterDepartment of Dermatology, Venereology, and Allergology, HELIOS St. Elisabeth Hospital, Oberhausen 46045, Germany.
Jörg H W DistlerDepartment of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen 91054, Germany.
Alexandre E VoskuylDepartment of Rheumatology, VU University Medical Center, Amsterdam 1081 HV, the Netherlands.
Annemie J SchuerweghDepartment of Rheumatology and Pathology and Central Medical Immunology Laboratory, Leiden University Medical Center, Leiden 2300 RC, the Netherlands.
Roger HesselstrandDepartment of Rheumatology, Lund University, Lund 221 85, Sweden.
Annika NordinRheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institute, 171 76 Stockholm, Sweden.
Paolo AiróServizio di Reumatologia ed Immunologia Clinica Spedali Civili, Brescia 25123, Italy.
Claudio LunardiDepartment of Medicine, Universita degli Studi di Verona, Verona 37134, Italy.
Paul ShielsGlasgow Biomedical Research Centre, University of Glasgow, Glasgow G61 1BD, UK.
Jacob M van LaarMusculoskeletal Research Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Ariane HerrickArthritis Research UK Epidemiology Unit, The University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, UK.
Jane WorthingtonArthritis Research UK Epidemiology Unit, The University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, UK.
Christopher DentonCentre for Rheumatology, University College London Medical School, London WC1E 6BT, UK.
Fredrick M WigleyDivision of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA.
Laura K HummersDivision of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA.
John VargaDivision of Rheumatology, Northwestern University, Chicago, IL 60611, USA.
Monique E HinchcliffDivision of Rheumatology, Northwestern University, Chicago, IL 60611, USA.
Murray BaronDepartment of Rheumatology, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Marie HudsonDepartment of Rheumatology, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Janet E PopeDivision of Rheumatology, University of Western Ontario, London, ON N6A 4V2, Canada.
Daniel E FurstDivision of Rheumatology, University of California, Los Angeles, Los Angeles, CA 90095-1670, USA.
Dinesh KhannaDivision of Rheumatology, University of Michigan, Ann Arbor, MI 48109, USA.
Kristin PhillipsDivision of Rheumatology, University of Michigan, Ann Arbor, MI 48109, USA.
Elena SchiopuDivision of Rheumatology, University of Michigan, Ann Arbor, MI 48109, USA.
Barbara M SegalDivision of Rheumatology, University of Minnesota, Minneapolis, MN 55455, USA.
Jerry A MolitorDivision of Rheumatic and Autoimmune Diseases, University of Minnesota, Minneapolis, MN 55455, USA.
Richard M SilverDivision of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
Virginia D SteenDivision of Rheumatology, Georgetown University Medical Center, Washington, DC 20007, USA.
Robert W SimmsDivision of Rheumatology, Boston University, Boston, MA 02118, USA.
Robert A LafyatisDivision of Rheumatology, Boston University, Boston, MA 02118, USA.
Barri J FesslerDivision of Rheumatology, University of Alabama Birmingham, Birmingham, AL 35294-3408, USA.
Tracy M FrechDivision of Rheumatology, University of Utah, Salt Lake City, UT 84132-2101, USA.
Firas AlkassabDepartment of Rheumatology, Carolinas Healthcare System, Charlotte, NC 28211, USA.
Peter DochertyDepartment of Rheumatology, The Moncton Hospital, Moncton, NB E1C 6Z8, Canada.
Elzbieta KaminskaRheumatology Section, Department of Medicine, Alberta Health Services, Calgary, AB T2N 2T9, Canada.
Nader KhalidiDivision of Rheumatology, Department of Medicine, McMaster University, Hamilton, ON L8N 1Y2, Canada.
Henry Niall JonesDepartment of Rheumatology, University of Edmonton, Edmonton, AB T5M 0H4, Canada.
Janet MarklandDepartment of Rheumatology, University of Saskatchewan, Saskatoon, SK S7K 0H6, Canada.
David RobinsonDepartment of Rheumatology, Arthritis Center, University of Manitoba, Winnipeg, MB R3A 1M4, Canada.
Jasper BroenDepartment of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HC, the Netherlands; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Timothy R D J RadstakeDepartment of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HC, the Netherlands; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Carmen FonsecaCentre for Rheumatology, University College London Medical School, London WC1E 6BT, UK.
Bobby P KoelemanComplex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Javier MartinInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.
The University of Texas Health Science Center at Houston · USInstituto de Parasitología y Biomedicina "López - Neyra" · ESUniversity of Michigan–Ann Arbor · USConsejo Superior de Investigaciones Científicas · ESThe University of Texas MD Anderson Cancer Center · USUniversity College London · GBBoston University · USJewish General Hospital · CAJohns Hopkins University · USKarolinska University Hospital · SENorthwestern University · USUniversity Medical Center Groningen · NLUniversity Medical Center Utrecht · NLUniversity of Manchester · GBUniversity of Minnesota · USAlberta Health Services · CAAmsterdam UMC Location VUmc · NLAnn Arbor Center for Independent Living · USAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITCarolinas Healthcare System · US

Funding

U OF TEXAS HLTH SCI CTR HOUSTON CENTER FOR CLINICAL AND TRANSLATIONAL SCIENCESUL1RR024148 · NCRR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2006 to 2010
$27.9M
Translational studies for identifying and targeting novel pathways in systemic sclerosis pathogenesisP50AR060780 · NIAMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LAFYATIS, ROBERT A. · 2011 to 2021
$14.9M
Center for Clinical and Translational Sciences (CCTS)UL1TR000371 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2012 to 2016
$13.4M
Role of TGF-beta and CTGF Signaling Transgenic Mouse Models of SclerodermaP50AR054144 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI TAN, FILEMON K. · 2006 to 2010
$7.7M
CTSA: K12 COMPONENTKL2RR024149 · NCRR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2006 to 2011
$6.7M
Two-Stage Genome-Wide Association Study in Systemic SclerosisR01AR055258 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MAYES, MAUREEN MAUREEN · 2008 to 2012
$5.9M
Studies of HLA Region Genomics in Systemic Sclerosis and Ankylosing SpondyilitisU01AI090909 · NIAID · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MAYES, MAUREEN MAUREEN, REVEILLE, JOHN DUFFIN · 2010 to 2014
$2.9M
Innate immunity in dermal fibrosis and systemic sclerosisR01AR051089 · NIAMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LAFYATIS, ROBERT A. · 2005 to 2015
$2.8M
Pain Mechanisms and Outcomes in OsteoarthritisK23AR060241 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PHILLIPS, KRISTINE · 2011 to 2015
$670k
SCLERODERMA FAMILY REGISTRY AND DNA REPOSITORY-264002251-264002251-264002251N01AR002251 · NIAMS · WAYNE STATE UNIVERSITY · PI MAYES, MAUREEN · 2000 to 2006
$659k
Predictive Ability of Gene Expression Signatures In Skin as SSc BiomarkersK23AR059763 · NIAMS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI HINCHCLIFF, MONIQUE EVANGELINE · 2013 to 2015
$390k
Arthritis Research UK 20385NCATS NIH HHS UL1 TR000371NCRR NIH HHS 3UL1RR024148NCRR NIH HHS KL2 RR024149NCRR NIH HHS KL2RR024149-04NCRR NIH HHS UL1 RR024148NIAID NIH HHS U01 AI090909NIAMS NIH HHS K23 AR059763NIAMS NIH HHS K23 AR060241NIAMS NIH HHS N01 AR002251NIAMS NIH HHS N01-AR02251NIAMS NIH HHS P50 AR054144NIAMS NIH HHS P50AR054144NIAMS NIH HHS P50 AR060780NIAMS NIH HHS R01 AR051089NIAMS NIH HHS R01 AR055258
6 · The paper itself

Abstract

In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.

Indexed as

Genetic LociGenetic Predisposition to DiseaseAllelesAutophagy-Related Protein 5Carrier ProteinsCase-Control StudiesChromosomes, Human, Pair 11Chromosomes, Human, Pair 3DEAD-box RNA HelicasesEndodeoxyribonucleasesFemaleGenome-Wide Association StudyGenotypeHLA AntigensHumansInterleukin-12 Subunit p35ATG5 protein, humanAutophagy-Related Protein 5Carrier ProteinsDDX6 protein, humanDEAD-box RNA HelicasesDNASE1L3 protein, humanEndodeoxyribonucleasesHLA AntigensIL12A protein, humanInterleukin-12 Subunit p35Microtubule-Associated ProteinsProto-Oncogene ProteinsSCHIP1 protein, human

Identifiers

PMID24387989
PMCPMC3882906
OpenAlexW2087005537

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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.