Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population.
Ann Rheum Dis
; 68(12): 1921-4, 2009 Dec.
Article
em En
| MEDLINE
| ID: mdl-19054818
ABSTRACT
OBJECTIVES:
To validate the association of a single nucleotide polymorphism (SNP) of the connective tissue growth factor gene (CTGF) with susceptibility to systemic sclerosis (SSc) in the Japanese population.METHODS:
395 Japanese patients with SSc, 115 patients with rheumatoid arthritis and 269 healthy Japanese volunteers were enrolled in the study. An SNP (rs6918698) at -945 bp from the start codon in the promoter region of the CTGF gene was determined by allelic discrimination with the use of a specific TaqMan probe.RESULTS:
The G allele showed a significantly higher frequency in patients with SSc than in controls (p<0.001; odds ratio 1.5; 95% confidence interval 1.2 to 1.9). In particular, the clinical subsets of SSc showed a more significant association between the G allele and diffuse cutaneous SSc (p<0.001) and the presence of interstitial lung disease (p<0.001), the presence of anti-topoisomerase I antibody (p<0.001) and anti-U1RNP antibody (p = 0.010). Association analyses using the genotype of the SNP yielded results similar to those of analyses using the allele.CONCLUSIONS:
This study confirms the association between an SNP in the CTGF gene and susceptibility to SSc, especially in the presence of diffuse cutaneous SSc, interstitial lung disease and anti-topoisomerase I antibody. The results strongly suggest that this SNP may be a powerful indicator of severe skin and lung involvement in patients with SSc.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Escleroderma Sistêmico
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Polimorfismo de Nucleotídeo Único
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Fator de Crescimento do Tecido Conjuntivo
Tipo de estudo:
Clinical_trials
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Etiology_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Ann Rheum Dis
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Japão