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1
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Gorlova, Olga; Martín, J. E.; Rueda, B.. - : Public Library of Science, 2011
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2
Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression
Broen, J C A; Dieude, P; Vonk, M C. - : British Medical Journal Publishing Group, 2011
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3
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
Diaz-Gallo, LM; Gourh, P; Broen, J. - : BMJ Publishing Group Ltd, 2011
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4
Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
Broen, J C A; Gourh, P; Vonk, M C. - : British Medical Journal Publishing Group, 2011
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5
A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
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6
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
McCarthy, M.I.; Gorlova, O.; Martin, J-E.. - : Public Library of Science, 2011
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7
Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
In: PLoS Genetics, 14-07-2011 (2011)
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8
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
Diaz-Gallo, LM; Gourh, P; Broen, J. - : BMJ Publishing Group Ltd, 2010
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9
Identification of novel genetic markers associated with the clinical phenotypes of systemic sclerosis through a genome wide association strategy
Gorlova, O; Martin, J M; Rueda, B. - : BioMed Central, 2010
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10
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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11
Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
Broen, JCA; Gourh, P; Vonk, M C. - : BioMed Central, 2010
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12
Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with Systemic Sclerosis and do not influence gene expression
Broen, JCA; Dieude, P; Vonk, M C. - : BioMed Central, 2010
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13
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
Rueda, B.; Broen, J.; Simeon, C.. - : Oxford University Press, 2009
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14
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
Rueda, B.; Broen, J.; Simeon, C.. - : Oxford University Press, 2009
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15
A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype
Rueda, B; Simeon, C; Hesselstrand, R. - : BMJ Publishing Group Ltd, 2009
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16
The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype
Rueda, B; Broen, J; Torres, O. - : BMJ Publishing Group Ltd, 2009
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17
The Interleukin 23 Receptor gene does not confer risk to systemic sclerosis and is not associated with SSc disease phenotype
Abstract: Objective: Multiple studies indicate the role of the IL-17/IL-23 axis in autoimmune diseases including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype. Methods: An initial case-control study in 143 Dutch SSc patients and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish SSc patients and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay. Results: Using a Dutch cohort of SSc patients and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: P=0.02 and P=0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes. Conclusions: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.
Keyword: Concise Report
URL: https://doi.org/10.1136/ard.2008.096719
http://ard.bmj.com/cgi/content/short/ard.2008.096719v1
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18
A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype
Rueda, B; Simeon, C; Hesselstrand, R. - : BMJ Publishing Group Ltd, 2008
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19
A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype
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