English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/66424
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:


A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

AuthorsBossini-Castillo, L.; Martín, J. E.; Broen, Jasper C.; Gorlova, Olga; Simeón, Carmen P.; Beretta, L.; Vonk, Madelon C.; Callejas-Rubio, J. L.; Castellví, I.; Carreira, P.; García-Hernández, F. J.; Castro, M. F.; Coenen, M. J.; Riemekasten, G.; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, A.; Distler, J. H.; Koeleman, B. P.; Voskuyl, Alexandre E.; Schuerwegh, A. J.; Palm, Øyvind; Hesselstrand, R.; Nordin, A.; Airó, Paolo; Lunardi, C.; Scorza, R.; Shiels, Paul G.; Laar, Jacob M. van; Herrick, A.; Worthington, J.; Denton, C.; Tan, F. K.; Arnett, F. C.; Agarwal, S. K.; Assassi, S.; Fonseca, C.; Mayes, M. D.; Radstake, T. R.; Martín, J.
Issue Date2012
PublisherOxford University Press
CitationHuman Molecular Genetics 21: 926- 933 (2012)
AbstractA single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [PMH5 1.92 3 10 -5 odds ratio (OR) 5 1.19] as the genetic variant with the firmest independent association observed in the analyzedGWASpeak of association. After the first follow-up phase, only the association of rs3790567 was consistent (PMH5 4.84 3 10 -3OR 5 1.12). The second follow-up phase confirmed this finding (Px2 5 2.82 3 10 -4 OR 5 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (PMH5 2.82 3 10 -9 OR 5 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis. © The Author 2011. Published by Oxford University Press. All rights reserved.
Identifiersdoi: 10.1093/hmg/ddr522
issn: 0964-6906
Appears in Collections:(IPBLN) Artículos
Files in This Item:
There are no files associated with this item.
Show full item record
Review this work

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.