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A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype.

Rueda, B and Simeon, C and Hesselstrand, R and Herrick, A and Worthington, J and Ortego-Centeno, N and Riemekasten, G and Fonollosa, V and Vonk, MC and van den Hoogen, FHJ and Sanchez-Román, J and Aguirre-Zamorano, MA and García-Portales, R and Pros, A and Camps, MT and Gonzalez-Gay, MA and Coenen, MJ and Lambert, N and Nelson, JL and Radstake, TRDJ and Martin, J (2008) A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with Systemic Sclerosis susceptibility or phenotype. Annals of the rheumatic diseases. ISSN 1468-2060

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OBJECTIVE: In this work we conducted a replication study to investigate whether the -945 CTGF genetic variant is associated with SSc susceptibility or specific SSc phenotype. METHODS: The study population comprised of 1180 SSc patients and 1784 healthy controls from seven independent case-control sets of European ancestry (Spanish, French, Dutch, German, British, Swedish and North American). The -945 CTGF genetic variant was genotyped using a Taqman 5' allelic discrimination assay. RESULTS: First we conducted an independent association study that revealed in all case-control cohorts under study no association of the CTGF -945 polymorphism with SSc susceptibility. These findings were confirmed by a meta-analysis that reached a pooled OR of 1.12 (95 % CI 0.99-1.25, P=0.06). In addition, the possible contribution of the -945 CTGF genetic variant to SSc phenotype was investigated. However, stratification according to SSc subtypes (limited or diffuse), selective autoantibodies (antitopoisomerase I or anti-centromere) or pulmonary involvement reached no statistically significant skewing. CONCLUSION: Our results do not confirm previous findings and suggest that the CTGF -945 promoter polymorphism does not play a major role in SSc susceptibility or clinical phenotype.

Item Type: Article or Abstract
Additional Information: The "Online first" version of this article is available to subscribers only via the URL above.
DOI: 10.1136/ard.2008.100180
PubMed ID: 19054816
PMCID: PMC2743760
Grant Numbers: R01 AI041721-12, R01 AI045659-10
Keywords or MeSH Headings: Case-Control Studies Connective Tissue Growth Factor/genetics* Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Male Phenotype Polymorphism, Single Nucleotide* Promoter Regions, Genetic/genetics Scleroderma, Systemic/genetics*
Subjects: Cellular and Organismal Processes > Genetic processes > Mutation
Diseases > Autoimmune
Research Methodologies > Epidemiology > Risk assessment
Depositing User: Library Staff
Date Deposited: 28 Jul 2009 17:52
Last Modified: 14 Feb 2012 14:42

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