Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2009 |
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| Erschienen: |
2009 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:68 |
|---|---|
| Enthalten in: |
Annals of the rheumatic diseases - 68(2009), 12 vom: 30. Dez., Seite 1921-4 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kawaguchi, Y [VerfasserIn] |
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| Links: |
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| Themen: |
139568-91-5 |
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| Anmerkungen: |
Date Completed 31.12.2009 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1136/ard.2008.100586 |
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| funding: |
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|---|---|
| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM184919339 |
|---|
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| 024 | 7 | |a 10.1136/ard.2008.100586 |2 doi | |
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| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Kawaguchi, Y |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population |
| 264 | 1 | |c 2009 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
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| 500 | |a Date Completed 31.12.2009 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Multicenter Study | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Autoantibodies |2 NLM | |
| 650 | 7 | |a CCN2 protein, human |2 NLM | |
| 650 | 7 | |a Connective Tissue Growth Factor |2 NLM | |
| 650 | 7 | |a 139568-91-5 |2 NLM | |
| 700 | 1 | |a Ota, Y |e verfasserin |4 aut | |
| 700 | 1 | |a Kawamoto, M |e verfasserin |4 aut | |
| 700 | 1 | |a Ito, I |e verfasserin |4 aut | |
| 700 | 1 | |a Tsuchiya, N |e verfasserin |4 aut | |
| 700 | 1 | |a Sugiura, T |e verfasserin |4 aut | |
| 700 | 1 | |a Katsumata, Y |e verfasserin |4 aut | |
| 700 | 1 | |a Soejima, M |e verfasserin |4 aut | |
| 700 | 1 | |a Sato, S |e verfasserin |4 aut | |
| 700 | 1 | |a Hasegawa, M |e verfasserin |4 aut | |
| 700 | 1 | |a Fujimoto, M |e verfasserin |4 aut | |
| 700 | 1 | |a Takehara, K |e verfasserin |4 aut | |
| 700 | 1 | |a Kuwana, M |e verfasserin |4 aut | |
| 700 | 1 | |a Yamanaka, H |e verfasserin |4 aut | |
| 700 | 1 | |a Hara, M |e verfasserin |4 aut | |
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