TY - JOUR
T1 - A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype
AU - Rueda, B.
AU - Simeon, C.
AU - Hesselstrand, R.
AU - Herrick, A.
AU - Worthington, J.
AU - Ortego-Centeno, N.
AU - Riemekasten, G.
AU - Fonollosa, V.
AU - Vonk, M. C.
AU - Van Den Hoogen, F. H.J.
AU - Sanchez-Román, J.
AU - Aguirre-Zamorano, M. A.
AU - García-Portales, R.
AU - Pros, A.
AU - Camps, M. T.
AU - Gonzalez-Gay, M. A.
AU - Gonzalez-Escribano, M. F.
AU - Coenen, M. J.
AU - Lambert, N.
AU - Nelson, J. L.
AU - Radstake, T. R.D.J.
AU - Martin, J.
N1 - Copyright:
Copyright 2009 Elsevier B.V., All rights reserved.
PY - 2009/10
Y1 - 2009/10
N2 - Objective: To conduct a replication study to investigate whether the 2945 CTGF genetic variant is associated with systemic sclerosis (SSc) susceptibility or specific SSc phenotype. Methods: The study population comprised 1180 patients with SSc 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: An independent association study showed in all the case-control cohorts no association of the CTGF -945 polymorphism with SSc susceptibility. These findings were confirmed by a meta-analysis giving a pooled OR = 1.12 (95% CI 0.99 to 1.25), p = 0.06. Investigation of the possible contribution of the -945 CTGF genetic variant to SSc phenotype showed that stratification according to SSc subtypes (limited or diffuse), selective autoantibodies (anti-topoisomerase I or anticentromere) or pulmonary involvement reached no statistically significant skewing. Conclusion: The 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.
AB - Objective: To conduct a replication study to investigate whether the 2945 CTGF genetic variant is associated with systemic sclerosis (SSc) susceptibility or specific SSc phenotype. Methods: The study population comprised 1180 patients with SSc 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: An independent association study showed in all the case-control cohorts no association of the CTGF -945 polymorphism with SSc susceptibility. These findings were confirmed by a meta-analysis giving a pooled OR = 1.12 (95% CI 0.99 to 1.25), p = 0.06. Investigation of the possible contribution of the -945 CTGF genetic variant to SSc phenotype showed that stratification according to SSc subtypes (limited or diffuse), selective autoantibodies (anti-topoisomerase I or anticentromere) or pulmonary involvement reached no statistically significant skewing. Conclusion: The 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.
UR - http://www.scopus.com/inward/record.url?scp=70349386180&partnerID=8YFLogxK
U2 - 10.1136/ard.2008.100180
DO - 10.1136/ard.2008.100180
M3 - Journal articles
C2 - 19054816
AN - SCOPUS:70349386180
SN - 0003-4967
VL - 68
SP - 1618
EP - 1620
JO - Annals of the Rheumatic Diseases
JF - Annals of the Rheumatic Diseases
IS - 10
ER -
