Sistemik sklerozda COL1A1 ve COL1A2 gen polimorfizmlerinin incelenmesi
Abstract
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
Keywords
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.
Ayrıntılar
Birincil Dil
İngilizce
Konular
-
Bölüm
-
Yayımlanma Tarihi
11 Haziran 2010
Gönderilme Tarihi
4 Aralık 2009
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2010 Cilt: 32 Sayı: 2