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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
Human Molecular Genetics, Volume 18, No. 11, Year 2009
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Description
The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an initial case-control set of Spanish Caucasian ancestry and five independent cohorts of European ancestry (The Netherlands, Germany, Sweden, Italy and USA), were included in the study. The rs7574865 polymorphism was selected as STAT4 genetic marker. We observed that the rs7574865 T allele was significantly associated with susceptibility to lcSSc in the Spanish population [P = 1.9 × 10-5 odds ratio (OR) 1.61 95% confidence intervals (CI) 1.29-1.99], but not with dcSSc (P = 0.41 OR 0.84 95% CI 0.59-1.21). Additionally, a dosage effect was observed showing individuals with rs7574865 TT genotype higher risk for lcSSc (OR 3.34, P = 1.02 × 10-7 95% CI 2.11-5.31). The association of the rs7574865 T allele with lcSSc was confirmed in all the replication cohorts with different effect sizes (OR ranging between 1.15 and 1.86), as well as the lack of association of STAT4 with dcSSc. A meta-analysis to test the overall effect of the rs7574865 polymorphism showed a strong risk effect of the T allele for lcSSc susceptibility (pooled OR 1.54 95% CI 1.36-1.74; P < 0.0001). Our data show a strong and reproducible association of the STAT4 gene with the genetic predisposition to lcSSc suggesting that this gene seems to be one of the genetic markers influencing SSc phenotype. © The Author 2009. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Hesselstrand, Roger
Sweden, Lund
Skånes Universitetssjukhus
Ortego-Centeno, Norberto
Spain, Granada
Hospital Universitario San Cecilio
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Vonk, Madelon C.
Netherlands, Nijmegen
Radboud University Medical Center
van den Hoogen, Frank H.J.
Unknown Affiliation
Sánchez-Román, Julio
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Aguirre, Mª Angeles
Spain, Cordoba
Hospital Universitario Reina Sofia
González-Gay, Miguel Ángel
Spain, Lugo
Complejo Hospitalario Xeral Calde
Coenen, Marieke J.H.
Netherlands, Nijmegen
Radboud University Medical Center
Airo’, Paolo
Italy, Brescia
Spedali Civili Di Brescia
Beretta, Lorenzo
Italy, Milan
Università Degli Studi Di Milano
Scorza, Raffaella
Italy, Milan
Università Degli Studi Di Milano
van Laar, Jacob M.
Unknown Affiliation
Gónzalez-Escribano, María Francisca
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Nelson, Judith Lee
United States, Seattle
University of Washington
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud University Medical Center
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 150
Authors: 17
Affiliations: 16
Identifiers
Doi:
10.1093/hmg/ddp119
ISSN:
14602083
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study
Case-Control Study
Study Approach
Systematic review