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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis
American Journal of Human Genetics, Volume 94, No. 1, Year 2014
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Description
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. © 2014 The American Society of Human Genetics.
Authors & Co-Authors
Mayes, Maureen Davidica
United States, Austin
University of Texas System
Zhou, Xiaodong
United States, Austin
University of Texas System
Chen, Wei Vivien
United States, Houston
The University of Texas Md Anderson Cancer Center
Reveille, John D.
United States, Austin
University of Texas System
Carmona, Francisco David
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Gregersen, Peter K.
United States, New York
Northwell Health System
Lee, Annette T.
United States, New York
Northwell Health System
Carreira-Delgado, Patricia E.
Spain, Madrid
Hospital Universitario 12 de Octubre
González-Gay, Miguel Ángel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Zhernakova, Alexandra
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Padyukov, Leonid
Sweden, Stockholm
Karolinska Institutet
Alarcón-Riquelme, Marta Eugenia
United States, Oklahoma City
Oklahoma Medical Research Foundation
Wijmenga, Cisca
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Brown, Matthew A.
Australia, Woolloongabba
Translational Research Institute Australia
Beretta, Lorenzo
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Witte, Torsten
Germany, Hannover
Hannover Medical School
Hunzelmann, Nicolas
Germany, Koln
Universität zu Köln
Kreuter, Alexander
Unknown Affiliation
Distler, Jor̈g H.W.
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Voskuyl, Alexandre E.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Hesselstrand, Roger
Sweden, Lund
Lunds Universitet
Airo’, Paolo
Italy, Brescia
Spedali Civili Di Brescia
Shiels, Paul G.
United Kingdom, Glasgow
University of Glasgow
van Laar, Jacob M.
United Kingdom, Newcastle
Newcastle University
Herrick, Ariane L.
United Kingdom, Manchester
Health Innovation Manchester
Denton, Christopher Paul
United Kingdom, London
Ucl Medical School
Wigley, Fredrick M.
United States, Baltimore
Johns Hopkins University
Hummers, Laura Kathleen
United States, Baltimore
Johns Hopkins University
Baron, Murray
Canada, Montreal
Sir Mortimer B. Davis Jewish General Hospital
Hudson, Marie Anne R.
Canada, Montreal
Sir Mortimer B. Davis Jewish General Hospital
Pope, Janet Elizabeth
Canada, London
Western University
Fürst, Daniel Eric
United States, Los Angeles
University of California, Los Angeles
Khanna, Dinesh K.
United States, Ann Arbor
University of Michigan, Ann Arbor
Silver, Richard Michael
United States, Charleston
Medical University of South Carolina
Steen, Virginia D.
United States, Washington, D.c.
Georgetown University Medical Center
Lafyatis, Robert A.
United States, Boston
Boston University
Khalidi, Nader A.
Canada, Hamilton
Mcmaster University
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud Universiteit
Netherlands, Utrecht
University Medical Center Utrecht
Koeleman, Bobby P.C.
Netherlands, Utrecht
University Medical Center Utrecht
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 162
Authors: 41
Affiliations: 46
Identifiers
Doi:
10.1016/j.ajhg.2013.12.002
ISSN:
15376605
Research Areas
Genetics And Genomics