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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
Human Molecular Genetics, Volume 22, No. 19, Year 2013
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Description
Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21 109 (6835 cases and 14 274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 × 10-11, OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 × 10-11, OR = 1.20) and JAZF1 (P = 1.11 × 10-8, OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity. © The Author 2013.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_22_19_4021__index.html
https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_ddt248_ddt248supp.docx
https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_ddt248_ddt248supp_fig1.jpg
https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_ddt248_ddt248supp_fig2.jpg
https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_ddt248_ddt248supp_fig3.jpg
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https://efashare.b-cdn.net/share/pmc/articles/PMC3766185/bin/supp_ddt248_ddt248supp_tables.xlsx
Authors & Co-Authors
Vicente-Rabaneda, Esther Francisca
Spain, Madrid
Hospital Universitario de la Princesa
Ortego-Centeno, Norberto
Spain, Granada
Hospital Universitario San Cecilio
González-Gay, Miguel Ángel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Espinosa, Gerard
Spain, Barcelona
Hospital Clinic Barcelona
Carreira-Delgado, Patricia E.
Spain, Madrid
Hospital Universitario 12 de Octubre
Sabio, José Marío
Spain, Granada
Complejo Hospitalario Universitario de Granada
D’Alfonso, Sandra
Italy, Vercelli
Università Degli Studi Del Piemonte Orientale Amedeo Avogadro
Vonk, Madelon C.
Netherlands, Nijmegen
Radboud University Medical Center
Voskuyl, Alexandre E.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Kreuter, Alexander
Germany, Bochum
Ruhr-universitat Bochum
Witte, Torsten
Germany, Hannover
Hannover Medical School
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Hunzelmann, Nicolas
Germany, Koln
Universität zu Köln
Airo’, Paolo
Italy, Brescia
Spedali Civili Di Brescia
Beretta, Lorenzo
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Scorza, Raffaella
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
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
Zhou, Xiaodong
United States, Houston
University of Texas Health Science Center at Houston
Reveille, John D.
United States, Houston
University of Texas Health Science Center at Houston
Koeleman, Bobby P.C.
Netherlands, Utrecht
University Medical Center Utrecht
Radstake, Timothy R.D.J.
Netherlands, Utrecht
Universiteit Utrecht
Vyse, Timothy J.
United Kingdom, London
Faculty of Life Sciences & Medicine
Mayes, Maureen Davidica
United States, Houston
University of Texas Health Science Center at Houston
Alarcón-Riquelme, Marta Eugenia
Unknown Affiliation
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 102
Authors: 27
Affiliations: 28
Identifiers
Doi:
10.1093/hmg/ddt248
ISSN:
14602083
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Systematic review