Genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis

Ye, S.; Watts, Gerald F.; Mandalia, Sundhiya; Humphries, S.A.; Henney, AM

doi:10.1016/0021-9150(94)93383-9

Cited by 7 publications

(9 citation statements)

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“…27,33 In the 2 tests, 2 by 3 tables were used to compare genotype distributions in patients and controls, and 2 by 2 tables were used to assess the differences in allele frequency between the 2 groups. While some of the aforementioned polymorphisms have been consistently shown to be associated with susceptibility and progression of coronary artery disease or cancers in a number of studies, 15,[17][18][19][20][21][22][23][24][25][37][38][39] there have been only 2 reported studies on MMP gene polymorphisms in relation to intracranial aneurysm with conflicting results. In a case-control study of 76 patients and 93 controls from western Pennsylvania, the MMP-9 gene (CA)n microsatellite polymorphism was found to be associated with susceptibility of intracranial aneurysm, with lower frequencies of alleles (CA) 14 and (CA) 22 but higher frequencies of alleles (CA) 21 and (CA) 23 in cases than in controls (Pϭ0.02).…”

Section: Zhang Et Al Matrix Metalloproteinase Genes and Subarachnoid mentioning

confidence: 99%

“…14 Some of these promoter polymorphisms have allele-specific effects on the regulation of MMP gene transcription and are associated with the development and progression of coronary heart disease and cancers and possibly abdominal aortic aneurysms. [15][16][17][18][19][20][21][22][23][24][25][26] Polymorphisms in the MMP-3 and MMP-9 genes have previously been analyzed in relation to susceptibility of intracranial aneurysms, but the findings from different studies were inconsistent. 26,27 To address the question as to whether MMP genotypes are genetic determinants of intracranial aneurysms, we analyzed several promoter polymorphisms in the MMP-1, MMP-3, MMP-9, and MMP-12 genes in a sample of 92 patients with aneurysmal subarachnoid hemorrhage and 158 healthy control subjects, all from southern England.…”

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Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Zhang

Dhillon

Geary

et al. 2001

Stroke

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Background and Purpose-Intracranial aneurysm, which underlies the vast majority of subarachnoid hemorrhage incidences, has a multifactorial etiology, and the importance of genetic factors is increasingly recognized. Development and rupture of intracranial aneurysms involve degradation and remodeling of the vascular wall matrix in which the matrix metalloproteinases (MMPs) play an important role. The possible impact of MMP gene polymorphisms on susceptibility to intracranial aneurysms is still controversial, with conflicting data from different reported studies. Methods-In this study we analyzed 5 different functional promoter polymorphisms in the MMP-1, MMP-3, MMP-9, and MMP-12 genes in a sample of 92 patients with aneurysmal subarachnoid hemorrhage and 158 healthy control subjects, all from southern England. Results-No significant difference was detected between the patient and control groups in genotype distribution of any of the polymorphisms studied. Conclusions-The

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Section: Zhang Et Al Matrix Metalloproteinase Genes and Subarachnoid mentioning

confidence: 99%

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confidence: 99%

Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Zhang

Dhillon

Geary

et al. 2001

Stroke

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“…Three functional polymorphisms of MMPs are known to be related to coronary artery disease, i.e., MMP-3, MMP-9, and MMP-12 (Ye et al 1995;Terashima et al 1999;Zhang et al 1999;Jormsjo et al 2000).…”

Section: Introductionmentioning

confidence: 99%

Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention

et al. 2002

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The matrix metalloproteinases appear to play an important role in the development and progression of atherosclerotic lesions. We studied the C-1562T polymorphism of the gelatinase B promoter in relation to coronary artery disease and restenosis after a percutaneous coronary intervention (PCI) in Koreans. To determine the frequency of the C-1562T allele, we examined 63 patients with coronary artery disease who underwent both PCI and 6-month follow-up coronary angiograms (CAGs), and 67 control patients with a normal CAG with respect to their clinical data and genotype. Frequencies of the C/C homozygotes and the non-C/C heterozygotes and homozygotes (C/T and T/T) were 94% and 6% in the normal CAG group, and 76.2% and 23.8% in the patient group, respectively. This gave a relative risk of 0.203 (95% CI: 0.063-0.651, P ϭ 0.005) for coronary artery disease when the C/C genotype was compared with the non-C/C genotype. In the patient groups, the allele frequencies of the C/C and non-C/C were 80% and 20% in the nonrestenotic subgroup, and 71.4% and 28.6% in the restenotic subgroup (P ϭ 0.554). No T/T homozygote was found in any of the groups. We conclude that C/C homozygosity is a potential genetic protective factor for coronary artery disease in Koreans.

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“…Information on the gene organization was limited, but data had been published on the MMP‐3 promoter 12. Focusing our attentions on this region, we identified a single base insertion‐deletion polymorphism (5A/6A) at a position 1,612 bases 5′ of the start of transcription, estimated to have a population frequency of 0.49 13. We observed that nuclear proteins bound to this stretch of the promoter and that one of these protein bands appeared to bind differentially depending on the allelic sequence 14.…”

Section: The Family Of Matrix Metalloproteinasesamentioning

confidence: 99%

Genetic Diversity in the Matrix Metalloproteinase Family: Effects on Function and Disease Progression^a

Henney

Zhang

Jormsjö

et al. 2000

Annals of the New York Academy of Sciences

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Atherosclerosis is an example of a complex trait, where the course of the disease is influenced by a combination of common variation in a constellation of genes and the effect of a wide range of environmental variables. Thus, the underlying disease mechanisms will be modulated by genetic diversity and the effect this diversity has on an individual's response to environmental challenges such as smoking, diet, and exercise. Unlike the consequences of mutations in severe single‐gene disorders on protein function, the impact of individual common, functionally important sequence changes in genes contributing to multifactorial diseases is likely to be very small. The challenge is to dissect the contribution that each of these genes makes to the disease process. We have tackled this by identifying common genetic variants, studying their effects on function, and applying them to the analysis of association in appropriately structured and suitably powered studies. Even with our incomplete understanding of the disease, the list of potential candidate genes we could study is vast; but, we do know from pathological studies that a wide spectrum of structural architecture exists in atherosclerotic plaques, suggesting that remodeling of vascular connective tissue is fundamentally important. Matrix remodeling is controlled by a complex network of cell and matrix interactions, the net outcome of which is the product of a balance between synthetic and degradative processes. Our work has focused on the family of enzymes and inhibitors most directly associated with matrix turnover‐the matrix metalloproteinases (MMPs) and their natural inhibitors (TIMPs, tissue inhibitors of MPs). We specifically searched for functionally relevant genetic variants that might modulate the delicate control of matrix turnover. Using these molecular genetic strategies to investigate the impact of natural genetic variation on vascular matrix remodeling has begun to shed new light on the importance of these genes in atherogenesis.

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Genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis

Cited by 7 publications

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Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention

Genetic Diversity in the Matrix Metalloproteinase Family: Effects on Function and Disease Progression^a

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Genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis

Cited by 7 publications

References 0 publications

Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention

Genetic Diversity in the Matrix Metalloproteinase Family: Effects on Function and Disease Progressiona

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Genetic Diversity in the Matrix Metalloproteinase Family: Effects on Function and Disease Progression^a