Association study of the MMP1 gene polymorphism with knee osteoarthritis in Thais by high resolution melting (HRM) analysis
DOI:
https://doi.org/10.14456/tjg.2013.115Keywords:
osteoarthritis, polymorphism, MMP1Abstract
Osteoarthritis (OA) is the most common chronic joint disease in aging people. It is characterized by the degeneration and loss of the cartilage at the joint surface, accompanied by subchondral bone changes. Since the first characteristic of OA is the loss of collagen network, matrix metalloproteinases (MMPs) with collagenase activity are of interest as the possible cause of OA. The objective of this study was to investigate the association between a deletion SNP in MMP1 promoter (rs1799750; 1G/2G) and knee OA susceptibility in a Thai population. The study subjects consisted of 108 knee OA patients and 119 healthy controls. SNP genotyping was carried out by high resolution melting (HRM) analysis on the CFX96TM real-time PCR system (Bio-Rad). The melt profiles from all DNA samples were processed by Precision Melt AnalysisTM software. The allele frequencies (2G and 1G) and genotype distributions (2G/2G, 2G/1G and 1G/1G) were compared between patients and controls using the StatCalc program. The results showed that all genotypes are normally distributed, and the 2G allele is the major allele in this study population. No statistically significant association was found from all alleles and genotypes tested, both in the whole group and gender stratified groups. In conclusion, a SNP in the promoter of MMP1 was not associated with knee OA susceptibility in a Thai population.References
Aimes, RT and Quigley, JP (1995) Matrix metalloproteinase-2 is an interstitial collagenase. Inhibitor-free enzyme catalyzes the cleavage of collagen fibrils and soluble native type I collagen generating the specific 3/4- and 1/4-length fragments. J Biol Chem 270: 5872-5876.
Barlas, IO, Sezgin, M, Erdal, ME, Sahin, G, Ankarali, HC, Altintas, ZM and Turkmen, E (2009) Association of (-1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms). Rheumatol Int 29: 383-388.
Borden, P, Solymar, D, Sucharczuk, A, Lindman, B, Cannon, P and Heller, RA (1996) Cytokine control of interstitial collagenase and collagenase-3 gene expression in human chondrocytes. J Biol Chem 271: 23577-23581.
Chaganti, RK and Lane, NE (2011) Risk factors for incident osteoarthritis of the hip and knee. Curr Rev Musculoskelet Med 4: 99-104.
Dieppe, P and Kirwan, J (1994) The localization of osteoarthritis. Br J Rheumatol 33: 201-203.
Dieppe, PA and Lohmander, LS (2005) Pathogenesis and management of pain in osteoarthritis. Lancet 365: 965-973.
Erali, M, Voelkerding, KV and Wittwer, CT (2008) High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 85: 50-58.
Fell, HB, Barratt, ME, Welland, H and Green, R (1976) The capacity of pig articular cartilage in organ culture to regenerate after breakdown induced by complement-sufficient antiserum to pig erythrocytes. Calcif Tissue Res 20: 3-21.
Felson, DT (2004) An update on the pathogenesis and epidemiology of osteoarthritis. Radiol Clin N Am 42: 1-9.
Ghilardi, G, Biondi, ML, Mangoni, J, Leviti, S, DeMonti, M, Guagnellini, E and Scorza, R (2001) Matrix metalloproteinase-1 promoter polymorphism 1G/2G is correlated with colorectal cancer invasiveness. Clin Cancer Res 7: 2344-2346.
Hochberg, MC, Yerges-Armstrong, L and Mitchell, BD (2012) Osteoarthritis susceptibility genes continue trickling in. Lancet 380: 785-787.
Jubb, RW and Fell, HB (1980) The breakdown of collagen by chondrocytes. J Pathol 130: 159-167.
Kanamori, Y, Matsushima, M, Minaguchi, T, Kobayashi, K, Sagae, S, Kudo, R, Terakawa, N and Nakamura, Y (1999) Correlation between expression of the matrix metalloproteinase-1 gene in ovarian cancers and an insertion/deletion polymorphism in its promoter region. Cancer Res 59: 4225-4227.
Kellgren, JH and Lawrence, JS (1957) Radiological assessment of osteo-arthrosis. Ann Rheum Dis 16: 494-502.
Keyszer, GM, Heer, AH, Kriegsmann, J, Geiler, T, Trabandt, A, Keysser, M, Gay, RE and Gay, S (1995) Comparative analysis of cathepsin L, cathepsin D, and collagenase messenger RNA expression in synovial tissues of patients with rheumatoid arthritis and osteoarthritis, by in situ hybridization. Arthritis Rheum 38: 976-984.
Kuo, HP, Wang, YM, Wang, CH, He, CC, Lin, SM, Lin, HC, Liu, CY, Huang, KH, Hsieh, LL and Huang, CD (2008) Matrix metalloproteinase-1 polymorphism in Taiwanese patients with endobronchial tuberculosis. Tuberculosis (Edinb) 88: 262-267.
Maroudas, A, Palla, G and Gilav, E (1992) Racemization of aspartic acid in human articular cartilage. Connect Tissue Res 28: 161-169.
Murphy, G and Nagase, H (2008) Reappraising metalloproteinases in rheumatoid arthritis and osteoarthritis: destruction or repair? Nat Clin Pract Rheumatol 4: 128-135.
Nagase, H and Woessner, JF, Jr. (1999) Matrix metalloproteinases. J Biol Chem 274: 21491-21494.
Ninomiya, S, Niimi, T, Shimizu, S, Sato, S, Achiwa, H, Ito, H, Akita, K, Maeda, H and Ueda, R (2004) Matrix metalloproteinase-1 polymorphism of promoter region in sarcoidosis and tuberculosis patients. Sarcoidosis Vasc Diffuse Lung Dis 21: 19-24.
Poonpet, T, Honsawek, S, Nattapol, T, Kanitnate, S, Tammachote, R (2013) ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women. Genetics and Molecular Research in press.
Price, SJ, Greaves, DR and Watkins, H (2001) Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele-specific transcriptional regulation. J Biol Chem 276: 7549-7558.
Reboul, P, Pelletier, JP, Tardif, G, Cloutier, JM and Martel-Pelletier, J (1996) The new collagenase, collagenase-3, is expressed and synthesized by human chondrocytes but not by synoviocytes. A role in osteoarthritis. J Clin Invest 97: 2011-2019.
Reed, GH, Kent, JO and Wittwer, CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8: 597-608.
Riley, GP, Curry, V, DeGroot, J, van El, B, Verzijl, N, Hazleman, BL and Bank, RA (2002) Matrix metalloproteinase activities and their relationship with collagen remodelling in tendon pathology. Matrix Biol 21: 185-195.
Rodriguez, S, Gaunt, TR and Day, IN (2009) Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 169: 505-514.
Rutter, JL, Mitchell, TI, Buttice, G, Meyers, J, Gusella, JF, Ozelius, LJ and Brinckerhoff, CE (1998) A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 58: 5321-5325.
Spector, TD and MacGregor, AJ (2004) Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 12 Suppl A: S39-44.
Tchetverikov, I, Lohmander, LS, Verzijl, N, Huizinga, TW, TeKoppele, JM, Hanemaaijer, R and DeGroot, J (2005) MMP protein and activity levels in synovial fluid from patients with joint injury, inflammatory arthritis, and osteoarthritis. Ann Rheum Dis 64: 694-698.
The International HapMap Consortium (2003) The International HapMap Project. Nature 426: 789-796.
Verzijl, N, DeGroot, J, Thorpe, SR, Bank, RA, Shaw, JN, Lyons, TJ, Bijlsma, JW, Lafeber, FP, Baynes, JW and TeKoppele, JM (2000) Effect of collagen turnover on the accumulation of advanced glycation end products. J Biol Chem 275: 39027-39031.
Wiencke, K, Louka, AS, Spurkland, A, Vatn, M, Schrumpf, E and Boberg, KM (2004) Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients. J Hepatol 41: 209-214.
Wolfe, GC, MacNaul, KL, Buechel, FF, McDonnell, J, Hoerrner, LA, Lark, MW, Moore, VL and Hutchinson, NI (1993) Differential in vivo expression of collagenase messenger RNA in synovium and cartilage. Quantitative comparison with stromelysin messenger RNA levels in human rheumatoid arthritis and osteoarthritis patients and in two animal models of acute inflammatory arthritis. Arthritis Rheum 36: 1540-1547.
Ye, S (2000) Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases. Matrix Biol 19: 623-629.
Zhu, Y, Spitz, MR, Lei, L, Mills, GB and Wu, X (2001) A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances lung cancer susceptibility. Cancer Res 61: 7825-7829.