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Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population

Kawaguchi, Y ; Ota, Y ; Kawamoto, M ; Ito, I ; Tsuchiya, N ; Sugiura, T ; Katsumata, Y ; Soejima, M ; Sato, S ; Hasegawa, M ; Fujimoto, M ; Takehara, K ; Kuwana, M ; Yamanaka, H ; Hara, M

Annals of the rheumatic diseases, 2009-12, Vol.68 (12), p.1921-1924 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and European League Against Rheumatism

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Título:
Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population
Autor: Kawaguchi, Y ; Ota, Y ; Kawamoto, M ; Ito, I ; Tsuchiya, N ; Sugiura, T ; Katsumata, Y ; Soejima, M ; Sato, S ; Hasegawa, M ; Fujimoto, M ; Takehara, K ; Kuwana, M ; Yamanaka, H ; Hara, M
Assuntos: Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group - genetics ; Autoantibodies - analysis ; Biological and medical sciences ; Child ; Confidence intervals ; Connective Tissue Growth Factor - genetics ; Diseases of the osteoarticular system ; Female ; Fibroblasts ; Fibrosis - etiology ; Fibrosis - genetics ; Gene Frequency ; Genes ; Genetic Predisposition to Disease ; Growth factors ; Humans ; Hypertension ; Immunoglobulins ; Japan ; Laboratories ; Lung diseases ; Lung Diseases, Interstitial - etiology ; Lung Diseases, Interstitial - genetics ; Male ; Medical sciences ; Middle Aged ; Polymorphism, Single Nucleotide ; Population ; Pulmonary arteries ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Scleroderma ; Scleroderma, Systemic - complications ; Scleroderma, Systemic - genetics ; Scleroderma, Systemic - immunology ; Skin - pathology ; Ulcers ; Young Adult
É parte de: Annals of the rheumatic diseases, 2009-12, Vol.68 (12), p.1921-1924
Notas: local:annrheumdis;68/12/1921
PMID:19054818
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ArticleID:ar100586
ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: London: BMJ Publishing Group Ltd and European League Against Rheumatism
Idioma: Inglês

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Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population

Kawaguchi, Y ; Ota, Y ; Kawamoto, M ; Ito, I ; Tsuchiya, N ; Sugiura, T ; Katsumata, Y ; Soejima, M ; Sato, S ; Hasegawa, M ; Fujimoto, M ; Takehara, K ; Kuwana, M ; Yamanaka, H ; Hara, M

London: BMJ Publishing Group Ltd and European League Against Rheumatism

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