A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype

B Rueda; C Simeon; R Hesselstrand; A Herrick; J Worthington; N Ortego-Centeno; G Riemekasten; V Fonollosa; M C Vonk; F H J van den Hoogen; J Sanchez-Román; M A Aguirre-Zamorano; R García-Portales; A Pros; M T Camps; M A Gonzalez-Gay; M F Gonzalez-Escribano; M J Coenen; N Lambert; J L Nelson; T R D J Radstake; J Martin

doi:10.1136/ard.2008.100180

A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype

B Rueda, C Simeon, R Hesselstrand, A Herrick, J Worthington, N Ortego-Centeno, G Riemekasten, V Fonollosa, M C Vonk, F H J van den Hoogen, J Sanchez-Román, M A Aguirre-Zamorano, R García-Portales, A Pros, M T Camps, M A Gonzalez-Gay, M F Gonzalez-Escribano, M J Coenen, N Lambert, J L NelsonT R D J Radstake, J Martin

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1618-20
Number of pages	3
Journal	Annals of the Rheumatic Diseases
Volume	68
Issue number	10
DOIs	https://doi.org/10.1136/ard.2008.100180
Publication status	Published - 2009
Externally published	Yes

Keywords

Case-Control Studies
Connective Tissue Growth Factor
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Male
Phenotype
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Scleroderma, Systemic
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

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10.1136/ard.2008.100180

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Rueda, B., Simeon, C., Hesselstrand, R., Herrick, A., Worthington, J., Ortego-Centeno, N., Riemekasten, G., Fonollosa, V., Vonk, M. C., van den Hoogen, F. H. J., Sanchez-Román, J., Aguirre-Zamorano, M. A., García-Portales, R., Pros, A., Camps, M. T., Gonzalez-Gay, M. A., Gonzalez-Escribano, M. F., Coenen, M. J., Lambert, N., ... Martin, J. (2009). A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype. Annals of the Rheumatic Diseases, 68(10), 1618-20. https://doi.org/10.1136/ard.2008.100180

@article{f3c057c9b41d497196217b88d3b84318,

title = "A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype",

abstract = "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.",

keywords = "Case-Control Studies, Connective Tissue Growth Factor, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Scleroderma, Systemic, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't",

author = "B Rueda and C Simeon and R Hesselstrand and A Herrick and J Worthington and N Ortego-Centeno and G Riemekasten and V Fonollosa and Vonk, \{M C\} and \{van den Hoogen\}, \{F H J\} and J Sanchez-Rom{\'a}n and Aguirre-Zamorano, \{M A\} and R Garc{\'i}a-Portales and A Pros and Camps, \{M T\} and Gonzalez-Gay, \{M A\} and Gonzalez-Escribano, \{M F\} and Coenen, \{M J\} and N Lambert and Nelson, \{J L\} and Radstake, \{T R D J\} and J Martin",

year = "2009",

doi = "10.1136/ard.2008.100180",

language = "English",

volume = "68",

pages = "1618--20",

journal = "Annals of the Rheumatic Diseases",

issn = "0003-4967",

publisher = "Elsevier",

number = "10",

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Rueda, B, Simeon, C, Hesselstrand, R, Herrick, A, Worthington, J, Ortego-Centeno, N, Riemekasten, G, Fonollosa, V, Vonk, MC, van den Hoogen, FHJ, Sanchez-Román, J, Aguirre-Zamorano, MA, García-Portales, R, Pros, A, Camps, MT, Gonzalez-Gay, MA, Gonzalez-Escribano, MF, Coenen, MJ, Lambert, N, Nelson, JL, Radstake, TRDJ & Martin, J 2009, 'A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype', Annals of the Rheumatic Diseases, vol. 68, no. 10, pp. 1618-20. https://doi.org/10.1136/ard.2008.100180

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 -

A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype

Abstract

Keywords

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