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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, Simeon, C, Hesselstrand, R, Herrick, AL, Worthington, J, Ortego-Centeno, N, Riemekasten, G, Fonollosa, V, Vonk, M, van den Hoogen, F, Sanchez-Román, J, Aguirre-Zamorano, M, GarcĂa-Portales, R, Pros, A, Camps, M, Gonzalez-Gay, M, Coenen, M, Lambert, N, Nelson, J, Radstake, T, Martin, J
Ann Rheum Dis. 2009;68(10):1618-1620.
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Abstract
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.