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)

Barlas, İbrahim Ömer; Sezgin, Melek; Erdal, Mehmet Emin; Şahin, Günşah; Ankaralı, Handan; Altintas, Zuhal Mert; Türkmen, E

doi:10.1007/s00296-008-0705-6

Cited by 46 publications

(53 citation statements)

References 28 publications

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“…Alteration in the activity of MMPs has been related to a number of important diseases such as cartilage destruction and bone erosion in rheumatoid arthritis (Ye et al 2007), osteoarthritis (Barlas et al 2009), acute myocardial infarction (Koh et al 2007), and in carcinogenesis (Egeblad and Werb 2002), invasion and metastasis of tumour cells (Basset et al 1997;Johnsen et al 1998).…”

Section: Mmpmentioning

confidence: 97%

MMP-1 polymorphism and its relationship to pathological processes

2009

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Matrix metalloproteinases (MMPs) are a family of zinc (Zn)-dependent endopeptidases that are collectively capable of cleaving virtually all extracellular matrix (ECM) substrates and play an important role in diverse physiological and pathological processes. The activity of MMPs is regulated at multiple levels. The transcriptional regulation of MMP appears to represent the key step in MMP regulation. There are diverse types of MMPs that differ structural and functionally. MMP-1 is the most ubiquitously expressed interstitial collagenase and has a prominent role in initial cleavage of the ECM. The level of MMP-1 expression can be influenced by different single-nucleotide polymorphisms (SNPs) in the promoter region. A functional polymorphism at position -1607 has been shown to alter the transcriptional activity of MMP-1 and was associated with diverse pathological processes. The aim of our review was to discuss some topics related to MMP in physiological and pathological processes, with a focus on MMP-1 polymorphism.

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Section: Mmpmentioning

confidence: 97%

MMP-1 polymorphism and its relationship to pathological processes

2009

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“…MMP-1 polymorphism has been implicated in OA in a Turkish population, and RAGE polymorphism has been implicated in rheumatoid arthritis (RA) in Caucasians (Carroll et al, 2007;Barlas et al, 2009). However, no studies have analyzed the association between RAGE, S100A8, and MMP-1 single-nucleotide polymorphisms (SNPs) and OA in the Han Chinese population.…”

Section: Introductionmentioning

confidence: 99%

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Yang¹,

Chuang²,

Fang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Recent studies have revealed that the inflammatory process plays a role in the pathogenesis of osteoarthritis (OA). The S100 family and receptor for advanced glycation end products (RAGE) 11363 RAGE gene in osteoarthritis ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 11362-11370 (2015) participate in regulating inflammation, even in the production of matrix metalloproteinases (MMPs). MMP-1 degrades cartilage, which may result in OA development. Moreover, polymorphisms in RAGE, S100A8, and MMP-1 have a marked effect on ligand binding and transcription regulating. In this study, we investigated the potential genetic contribution of the RAGE, S100A8, and MMP-1 genes to OA. We performed a matched case-control association study and genotyped OA patients and healthy controls, who were analyzed by polymerase chain reaction-restriction fragment length polymorphism assays. A total of 207 patients were diagnosed with knee OA and underwent total knee replacement. The control group included 207 individuals who had standard X-rays of the knee joints to confirm K/L < 2 and were matched by age and gender. Single-nucleotide polymorphisms in RAGE (-429T/C, -374T/A, and 557G/A), S100A8 (rs3795391A/G), and MMP-1 (-1607 1G/2G, -755G/T, and -519A/G) were evaluated. RAGE -374T/A, S100A8 rs3795391A/G, MMP-1 -1607 1G/2G, -755G/T, and -519A/G showed no significant difference between OA patients and healthy controls. RAGE -429T/C and 557G/A showed a significant association between OA patients and healthy controls (P = 0.016 and 0.047, respectively). In haplotype analyses, no RAGE and MMP-1 haplotypes showed associations with OA. Our results suggest that the investigated polymorphism in the RAGE gene play a role in OA in the Han Chinese population.

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“…Genetic polymorphism in MMP-1 (-1,607 1G/2G), MMP-2 (-1,306 C/T) and MMP-9 (-1,562 C/T), associated with increased transcriptional activity has shown to be involved in inhancing the susceptibility to knee osteoarthritis (Barlas et al, 2009). Likewise, allelic variants of ASPN, CALM-1, COL2A1, COMP and ESR-α, GDF-5, VDR, ADAM12 and BMP2 have been reported to be associated with knee OA.…”

Section: Mmp-14 Mt1-mmp)mentioning

confidence: 99%

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

Mishra¹,

Sanghi²,

Sharma³

et al. 2013

American Journal of Biochemistry and Biotechnology

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The present study investigated to identify the association of polymorphism in GDF-5 gene with osteoarthritis in North Indian population. In a case-control study, 300 cases with knee osteoarthritis and an equal number of age and gender matched healthy controls were included. Cases were diagnosed using the ACR Guidelines of Knee Osteoarthritis (KOA). Clinical symptoms were assessed with the knee specific WOMAC index and VAS for knee pain. The severity of disease was determined by radiological KL grades (Kellgren Lawren). The variant genotype of GDF-5 was found to be present at significantly higher frequency in cases than in controls, resulting in about 1.79 fold increase in risk to OA. Genotype distributions of the GDF-5 also showed significant association of variant allele with clinical score of OA patients. An association between the+104T/C GDF5 polymorphism with knee OA and clinical symptom of OA in Indian population further demonstrate a strong genetic influence of this SNP in KOA.

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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)

Cited by 46 publications

References 28 publications

MMP-1 polymorphism and its relationship to pathological processes

MMP-1 polymorphism and its relationship to pathological processes

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

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