Öz
Özet
Amaç. Sistemik sklerozis (SSc) ile kollajen üretimi üzerine etkili olabileceği düşünülen COL1A1 ve COL1A2 gen polimorfizmleri arasındaki olası bağlantıyı araştırmaktır. Yöntem. 45 kadın SSc hasta grubunda ve 75 sağlıklı kadın kontrol grubunda COL1A1 ve COL1A2 gen polimorfizmleri polimeraz zincir reaksiyonu (PCR) ve restriksiyon enzim analizi (REA) yöntemleri kullanılarak analiz edildi. Bulgular Sp1 ve PvuII genotip ve allel frekanslarının dağılımı hasta ve kontrol grubunda yaklaşık değerlerde bulundu ve bu polimorfizmlerle SSc arasında anlamlı bir bağlantı tespit edilemedi. Sonuç. Sistemik sklerozda kollajenin aşırı yapımı ve birikiminde COL1A1 geni Sp1 ve COL1A2 geni PvuII polimorfizmlerinin önemli rol oynamadığı düşünülmektedir.
Anahtar sözcükler: Sistemik skleroz, kollajen, polimorfizm
Abstract
Aim. Our aim was to investigate the association between Systemic sclerosis (SSc) and COL1A1 and COL1A2 gene polymorphisms which are thought to have a probable effect on the production of collagen. Method. We analysed COL1A1 and COL1A2 gene polymorphisms in 45 SSc women patients and 75 healthy women by using the Polymerase Chain Reaction (PCR) and Restriction Enzyme Analysis (REA). Result. It was found that the genotip and allel frequencies distribution of Sp1 and PvuII was approximately the same values in the control and patient group and also determined that there was no meaningful association between SSc and these polymorphisms. Conclusion. It was thought that Sp1 polymorphism of COL1A1 gene and PvuII polymorphism of COL1A2 gene did not play a significant role on the excessive synthesis and deposition of collagen in systemic sclerosis.
Key words: Systemic sclerosis, collagen, polymorphism
Anahtar Kelimeler
Kaynakça
- LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J.Rheumatol 1988;15:202-5.
- Chen K, See A, Shumack S. Epidemiology and Pathogenesis of Scleroderma. Australas J Dermatol 2003 ;44:1-7
- Hinchcliff M, Varga J. Systemic sclerosis/scleroderma: a treatable multisystem disease. Am Fam Physician 2008;78:961-8.
- Eckes B, Mauch C, Huppe G, Krieg T. Differential regulation of transcription and transcript stability of pro-alpha 1(I) collagen and fibronectin in activated fibroblasts derived from patients with systemic scleroderma. Biochem J 1996; 315: 549-554.
- Ghosh AK. Factors involved in the regulation of type I collagen gene expression: implication in fibrosis. Exp Biol Med (Maywood) 2002; 227: 301-14.
- Trojanowska, M. Molecular aspects of scleroderma. Front Biosci 2002; 7: 608-18.
- Mann V, Hobson EE, Li B, Stewart TL, Grant SFA, Robins SP, Aspden RM, Ralston SH (2001) A COL1A1Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107: 899-907
- Deak SB, van der RM, Prockop DJ. Altered helical structure of a homotrimer of alpha 1(I) chains synthesized by fibroblasts from a variant of osteogenesis imperfecta. Coll Relat Res 1985; 5: 305-13.
- Suuriniemi M, Mahonen A, Kovanen V, Alén M, Cheng S. Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. Physiol Genomics 2003; 14: 217-24.
- Ramirez F, Tanaka S, Bou-Gharios G. Transcriptional regulation of the human alpha2(I) collagen gene (COL1A2), an informative model system to study fibrotic diseases. Matrix Biology 2006; 25: 365-72.
- Liu T, Zhang J. Expression and distribution of type I, III and V collagens in skin lesions from patients with systemic sclerosis. Sichuan Da Xue Xue Bao Yi Xue Ban 2008;39: 748-52.
- Liu T, Zhang J. Detection of V, III and I type collagens of dermal tissues in skin lesions of patients with systemic sclerosis and its implication. J Huazhong Univ Sci Technolog Med Sci 2008; 28: 599-603.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. NRAMP1 (SLC11A1): A Plausible Candidate Gene for Systemic Sclerosis (SSc) with Interstitial Lung Involvement. J Clin Immunol 2008; 28: 73-7.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. Association between Interleukin 10 Gene (IL10) Polymorphisms and Systemic Sclerosis (SSc) with Interstitial Lung Involvement. Rheumatol Int 2008; 28: 1123-6.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. Analyses of TNF polymorphisms in Turkish systemic sclerosis patients with interstitial lung involvement. Biochem Genet 2008; 46: 696-701.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 11; 16: 1215.
- Granel B, Bernard F, Chevillard C. Genetic susceptibility to systemic sclerosis. From clinical aspect to genetic factor analyses. Eur J Intern Med 2009 ; 20: 242-52.
- Allanore Y, Wipff J, Kahan A, Boileau C. Genetic basis for systemic sclerosis. Joint Bone Spine 2007; 74: 577-83.
- Hata R, Akai J, Kimura A, Ishikawa O, Kuwana M, Shinkai H. Association of functional microsatellites in the human type I collagen alpha2 chain (COL1A2) gene with systemic sclerosis. Biochem Biophys Res Commun 2000; 272: 36-40.
- Pushpakom SP, Herrick AL, Kumar S, Worthington J. Polymorphisms in COL15 gene are not associated with systemic sclerosis. J Rheumatol 2008; 35: 251-3.
Öz
Amaç. Sistemik sklerozis (SSc) ile kollajen üretimi üzerine etkili olabileceği düşünülen COL1A1 ve COL1A2 gen polimorfizmleri arasındaki olası bağlantıyı araştırmaktır. Yöntem. 45 kadın SSc hasta grubunda ve 75 sağlıklı kadın kontrol grubunda COL1A1 ve COL1A2 gen polimorfizmleri polimeraz zincir reaksiyonu (PCR) ve restriksiyon enzim analizi (REA) yöntemleri kullanılarak analiz edildi. Bulgular Sp1 ve PvuII genotip ve allel frekanslarının dağılımı hasta ve kontrol grubunda yaklaşık değerlerde bulundu ve bu polimorfizmlerle SSc arasında anlamlı bir bağlantı tespit edilemedi. Sonuç. Sistemik sklerozda kollajenin aşırı yapımı ve birikiminde COL1A1 geni Sp1 ve COL1A2 geni PvuII polimorfizmlerinin önemli rol oynamadığı düşünülmektedir
Anahtar Kelimeler
Kaynakça
- LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J.Rheumatol 1988;15:202-5.
- Chen K, See A, Shumack S. Epidemiology and Pathogenesis of Scleroderma. Australas J Dermatol 2003 ;44:1-7
- Hinchcliff M, Varga J. Systemic sclerosis/scleroderma: a treatable multisystem disease. Am Fam Physician 2008;78:961-8.
- Eckes B, Mauch C, Huppe G, Krieg T. Differential regulation of transcription and transcript stability of pro-alpha 1(I) collagen and fibronectin in activated fibroblasts derived from patients with systemic scleroderma. Biochem J 1996; 315: 549-554.
- Ghosh AK. Factors involved in the regulation of type I collagen gene expression: implication in fibrosis. Exp Biol Med (Maywood) 2002; 227: 301-14.
- Trojanowska, M. Molecular aspects of scleroderma. Front Biosci 2002; 7: 608-18.
- Mann V, Hobson EE, Li B, Stewart TL, Grant SFA, Robins SP, Aspden RM, Ralston SH (2001) A COL1A1Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107: 899-907
- Deak SB, van der RM, Prockop DJ. Altered helical structure of a homotrimer of alpha 1(I) chains synthesized by fibroblasts from a variant of osteogenesis imperfecta. Coll Relat Res 1985; 5: 305-13.
- Suuriniemi M, Mahonen A, Kovanen V, Alén M, Cheng S. Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. Physiol Genomics 2003; 14: 217-24.
- Ramirez F, Tanaka S, Bou-Gharios G. Transcriptional regulation of the human alpha2(I) collagen gene (COL1A2), an informative model system to study fibrotic diseases. Matrix Biology 2006; 25: 365-72.
- Liu T, Zhang J. Expression and distribution of type I, III and V collagens in skin lesions from patients with systemic sclerosis. Sichuan Da Xue Xue Bao Yi Xue Ban 2008;39: 748-52.
- Liu T, Zhang J. Detection of V, III and I type collagens of dermal tissues in skin lesions of patients with systemic sclerosis and its implication. J Huazhong Univ Sci Technolog Med Sci 2008; 28: 599-603.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. NRAMP1 (SLC11A1): A Plausible Candidate Gene for Systemic Sclerosis (SSc) with Interstitial Lung Involvement. J Clin Immunol 2008; 28: 73-7.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. Association between Interleukin 10 Gene (IL10) Polymorphisms and Systemic Sclerosis (SSc) with Interstitial Lung Involvement. Rheumatol Int 2008; 28: 1123-6.
- Ates O, Musellim B, Ongen G, Topal-Sarıkaya A. Analyses of TNF polymorphisms in Turkish systemic sclerosis patients with interstitial lung involvement. Biochem Genet 2008; 46: 696-701.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 11; 16: 1215.
- Granel B, Bernard F, Chevillard C. Genetic susceptibility to systemic sclerosis. From clinical aspect to genetic factor analyses. Eur J Intern Med 2009 ; 20: 242-52.
- Allanore Y, Wipff J, Kahan A, Boileau C. Genetic basis for systemic sclerosis. Joint Bone Spine 2007; 74: 577-83.
- Hata R, Akai J, Kimura A, Ishikawa O, Kuwana M, Shinkai H. Association of functional microsatellites in the human type I collagen alpha2 chain (COL1A2) gene with systemic sclerosis. Biochem Biophys Res Commun 2000; 272: 36-40.
- Pushpakom SP, Herrick AL, Kumar S, Worthington J. Polymorphisms in COL15 gene are not associated with systemic sclerosis. J Rheumatol 2008; 35: 251-3.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Dahili Tıp Bilimleri Araştırma Yazıları |
| Yazarlar | |
| Yayımlanma Tarihi | 11 Haziran 2010 |
| Yayımlandığı Sayı | Yıl 2010Cilt: 32 Sayı: 2 |