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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Identification of CSK as a systemic sclerosis genetic risk factor through genome wide association study follow-up
Human Molecular Genetics, Volume 21, No. 12, Article dds099, Year 2012
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Description
Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication cohorts from Europe. Overall significance was calculated for replicated significant SNPs by meta-analysis of the replication cohorts and replication-GWAS cohorts (3237 cases and 6097 controls). Six SNPs in regions not previously associated with SSc were selected for validation in another five independent cohorts, up to a total of 5270 SSc patients and 8326 controls. We found evidence for replication and overall genome-wide significance for one novel SSc genetic risk locus: CSK [P-value 5 5.04 3 10-12, odds ratio (OR) 5 1.20]. Additionally, we found suggestive association in the loci PSD3 (P-value 5 3.18 3 10-7, OR 5 1.36) and NFKB1 (P-value 5 1.03 3 10-6, OR5 1.14). Additionally, we strengthened the evidence for previously confirmed associations. This study significantly increases the number of known putative genetic risk factors for SSc, including the genes CSK, PSD3 and NFKB1, and further confirms six previously described ones. © The Author 2012. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Carmona, Francisco David
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Vonk, Madelon C.
Netherlands, Nijmegen
Radboud University Medical Center
Rodríguez-Rodríguez, Luís Pablo
Spain, Madrid
Hospital Clínico San Carlos
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
Carreira-Delgado, Patricia E.
Spain, Madrid
Hospital Universitario 12 de Octubre
Voskuyl, Alexandre E.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Kreuter, Alexander
Unknown Affiliation
Witte, Torsten
Germany, Hannover
Hannover Medical School
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Airo’, Paolo
Italy, Brescia
Spedali Civili Di Brescia
Scorza, Raffaella
Italy, Milan
Università Degli Studi Di Milano
Hunzelmann, Nicolas
Germany, Koln
Universität zu Köln
Distler, Jor̈g H.W.
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Beretta, Lorenzo
Italy, Milan
Università Degli Studi Di Milano
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
Mayes, Maureen Davidica
United States, Houston
University of Texas Health Science Center at Houston
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud University Medical Center
Koeleman, Bobby P.C.
Netherlands, Utrecht
University Medical Center Utrecht
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 81
Authors: 23
Affiliations: 25
Identifiers
Doi:
10.1093/hmg/dds099
ISSN:
14602083
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Case-Control Study
Study Approach
Systematic review