Genes (37)
Species: human : 37 | |
Human | XYLT1 | 64131 | xylosyltransferase I | results show that XT-I polymorphisms potentially confer to the genetic susceptibility of abdominal aortic aneurysm | Human | RETN | 56729 | resistin | Serum resistin concentrations were more strongly associated with aortic diameter than adipokines that are more intimately associated with adiposity in obesity and abdominal aortic aneurysm | Human | HPSE | 10855 | heparanase | Heparanase participates in the structure damage and remodeling of abdominal aorta at matrix level, which contributes to abdominal aortic aneurysm (AAA) formation | Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | Serum resistin concentrations were more strongly associated with aortic diameter than adipokines that are more intimately associated with adiposity in obesity and abdominal aortic aneurysm | Human | PLA2G7 | 7941 | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) | The genetic mutation of plasma PAF-AH gene appear to be an independent risk factor for AAA (abdominal aortic aneurysm) | Human | TIMP3 | 7078 | TIMP metallopeptidase inhibitor 3 | genetic variation in TIMP3 may contribute to the pathogenesis of abdominal aortic aneurysm | Human | TIMP2 | 7077 | TIMP metallopeptidase inhibitor 2 | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | TIMP1 | 7076 | TIMP metallopeptidase inhibitor 1 | genetic variations in TIMP1 may contribute to pathogenesis of abdominal aortic aneurysm Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. No association between genetic polymorphisms of the TIMP-1 gene and abdominal aortic aneurysm was found, suggesting that variations in the TIMP-1 gene do no contribute to the development of AAA | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | CX3CL1 | 6376 | chemokine (C-X3-C motif) ligand 1 | CX3CL1+ and CX3CR1+ cells are present in abdominal aortic aneurysms and may contribute to the recruitment of inflammatory cells | Human | PROC | 5624 | protein C (inactivator of coagulation factors Va and VIIIa) | Patients with abdominal aortic aneurysm have increased thrombin generation reflected by an increase in the activated protein C-protein C inhibitor complex, which correlates with aneurysm size | Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Title:Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.|Association:Not Found|Conclusion:There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect. | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm.|Association:Not Found|Conclusion:The present study showed that the eNOS G894T polymorphism is a mild modulator of the predisposition to AAA apart from traditional risk factors, suggesting a genetic influence on the molecular mechanisms responsible for this complex disease. | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | greater risk of abdominal aortic aneurysm in carriers of the MTHFR 677T allele | Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | MMP12 | 4321 | matrix metallopeptidase 12 (macrophage elastase) | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | MMP10 | 4319 | matrix metallopeptidase 10 (stromelysin 2) | identified significant interactions between MMP10 (nt+180) polymorphisms and gender in abdominal aortic aneurysm | Human | MMP9 | 4318 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) | Low molecular weight heparin treatment of abdominal aortic aneurysms was associated with decreased plasma MMP-9 activity Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. showed reduction in MMP-9 levels in the abdominal aortic aneurysm wall in patients randomised to simvastatin A localized increase in MMP-8 and -9, mediated by native mesenchymal cells, presents a potential pathway for collagen breakdown and abdominal aortic aneurysm rupture Title:Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.|Association:Not Found|Conclusion:There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect. Chymase-induced MMP-9 activation may play an important role in the progression of abdominal aortic aneurysm Title:Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm.|Association:Y|Conclusion:This study provides further evidence to support the role of MMP-9 in the pathogenesis of AAA, and indicates that the MMP9 C-1562T functional polymorphism may represent a genetic component contributing to susceptibility to this vascular disease. | Human | MMP3 | 4314 | matrix metallopeptidase 3 (stromelysin 1, progelatinase) | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. Title:Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.|Association:Not Found|Conclusion:There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect. | Human | MMP2 | 4313 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) | Title:Linked common polymorphisms in the gelatinase a promoter are associated with diminished transcriptional response to estrogen and genetic fitness.|Association:Y|Conclusion:The frequency of the 1575 G to A transition deviated significantly from the expected Hardy-Weinberg distribution in two independently assembled study populations consisting of healthy adult blood donors and newborns of Caucasian origin, both with a calculated 21% reduction in genetic fitness. Title:Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.|Association:Not Found|Conclusion:There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect. variations in the MMP2 gene do not contribute to the development of abdominal aortic aneurysm Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | MMP1 | 4312 | matrix metallopeptidase 1 (interstitial collagenase) | Title:Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.|Association:Not Found|Conclusion:These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA. | Human | MIF | 4282 | macrophage migration inhibitory factor (glycosylation-inhibiting factor) | MIF and matrix metalloproteinases may have roles in development of human abdominal aortic aneurysms | Human | LEP | 3952 | leptin | Serum resistin concentrations were more strongly associated with aortic diameter than adipokines that are more intimately associated with adiposity in obesity and abdominal aortic aneurysm | Human | IL10 | 3586 | interleukin 10 | study shows the IL-10-1082 'A' allele is associated with abdominal aortic aneurysms (AAA), although this association is likely to be secondary to an association between IL-10-1082 genotype & other markers of cardiovascular disease rather than AAA per se | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | The IL-6 572G>C polymorphism is associated with abdominal aortic aneurysms (AAAs), however it is too rare to be an important cause of most AAAs The secretory levels of PGE(2), TXB(2) and IL-6 were highest in ruptured abdominal aortic aneurysms and statistically higher than those in intact abdominal aortic aneurysms |
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