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
PY - 2009
Y1 - 2009
N2 - OBJECTIVE: To conduct a replication study to investigate whether the -945 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 -945 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.
KW - Case-Control Studies
KW - Connective Tissue Growth Factor
KW - Female
KW - Gene Frequency
KW - Genetic Predisposition to Disease
KW - Genotype
KW - Humans
KW - Male
KW - Phenotype
KW - Polymorphism, Single Nucleotide
KW - Promoter Regions, Genetic
KW - Scleroderma, Systemic
KW - Journal Article
KW - Multicenter Study
KW - Research Support, Non-U.S. Gov't
U2 - 10.1136/ard.2008.100180
DO - 10.1136/ard.2008.100180
M3 - Article
C2 - 19054816
SN - 0003-4967
VL - 68
SP - 1618
EP - 1620
JO - Annals of the Rheumatic Diseases
JF - Annals of the Rheumatic Diseases
IS - 10
ER -