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Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
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Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression
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Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
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A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
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Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
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Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
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In: PLoS Genetics, 14-07-2011 (2011)
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Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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Identification of novel genetic markers associated with the clinical phenotypes of systemic sclerosis through a genome wide association strategy
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BASE
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Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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BASE
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Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
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BASE
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Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with Systemic Sclerosis and do not influence gene expression
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The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
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The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
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Rueda, B.; Broen, J.; Simeon, C.; Hesselstrand, R.; Diaz, B.; Suárez, H.; Ortego-Centeno, N.; Riemekasten, G.; Fonollosa, V.; Vonk, M.C.; van den Hoogen, F.H.J.; Sanchez-Román, J.; Aguirre-Zamorano, M.A.; García-Portales, R.; Pros, A.; Camps, M.T.; Gonzalez-Gay, M.A.; Coenen, M.J.H.; Airo, P.; Beretta, L.; Scorza, R.; van Laar, J.; Gonzalez-Escribano, M.F.; Nelson, J.L.; Radstake, T.R.D.J.; Martin, J.. - : Oxford University Press, 2009
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Abstract:
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.
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Keyword:
ASSOCIATION STUDIES ARTICLES
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URL: http://hmg.oxfordjournals.org/cgi/content/short/18/11/2071 https://doi.org/10.1093/hmg/ddp119
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A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype
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The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype
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The Interleukin 23 Receptor gene does not confer risk to systemic sclerosis and is not associated with SSc disease phenotype
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A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype
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A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype
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