Matrix Metalloproteinase-9 Promoter Polymorphism Associated with Upper Lung Dominant Emphysema

Ito, Isao; Nagai, Sonoko; Handa, Tomohiro; Muro, Shigeo; Hirai, Toyohiro; Tsukino, Mitsuhiro; Mishima, Michiaki

doi:10.1164/rccm.200506-953oc

Cited by 142 publications

(111 citation statements)

References 47 publications

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“…Thus, MMP-9 is involved in the deterioration of components of the extracellular matrix such as gelatin, the collagens (IV, V, XI and XVII) and elastin. It has been shown that a polymorphism of MMP-9 (C-1562T) is associated with upper lung dominant emphysema [50,51]. In addition, a genetic predisposition for proteolysis of elastin in connection with the expression of a variant of the terminal exon in human elastin has been described for patients with severe COPD [52].…”

Section: Genetic Factorsmentioning

confidence: 99%

Epidemiology of COPD

Rahérison¹,

Girodet²

2009

European Respiratory Review

410

281

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Chronic obstructive pulmonary disease (COPD) is responsible for early mortality, high death rates and significant cost to health systems. The projection for 2020 indicates that COPD will be the third leading cause of death worldwide (from sixth in 1990) and fifth leading cause of years lost through early mortality or handicap (disability-adjusted life years) (12th in 1990). Active smoking remains the main risk factor, but other factors are becoming better known, such as occupational factors, infections and the role of air pollution. Prevalence of COPD varies according to country, age and sex. This disease is also associated with significant comorbidities. COPD is a disorder that includes various phenotypes, the continuum of which remains under debate. The major challenge in the coming years will be to prevent onset of smoking along with early detection of the disease in the general population.

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Section: Genetic Factorsmentioning

confidence: 99%

Epidemiology of COPD

Rahérison¹,

Girodet²

2009

European Respiratory Review

410

281

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“…Family studies confirm there is a heritable component of COPD 41 . Using a candidate gene approach with assumptions about the pathogenic mechanisms, polymorphisms in multiple genes with putative relevance to COPD have been identified in small studies, including microsomal epoxide hydroxylase (EPHX1) 6,7,40,42 , angiotensin converting enzyme 43,44 , β-defensin 1 45,46 , glutathione Stransferase 42,47 , matrix metalloproteinases 48,49 and tumor necrosis factor 50,51 . However, follow up studies in wider population have sometimes failed to confirm these association, possibly due to there likely being multiple genes associated with susceptibility/resistance to COPD, which may not be equally influential in all populations [11][12][13][14] .…”

Section: Implication Of Airway Gene Expression Variability For Genesimentioning

confidence: 99%

Variability in Small Airway Epithelial Gene Expression Among Normal Smokers

Ammous

Hackett

Butler

et al. 2008

Chest

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SummaryBackground-Despite overwhelming data that cigarette smoking causes chronic obstructive pulmonary disease (COPD), only a minority of chronic smokers are affected, strongly suggesting that genetic factors modify susceptibility to this disease. We hypothesized that there are individual variations in the response to cigarette smoking, with variability among smokers in expression levels of protective / susceptibility genes.

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“…Several polymorphisms potentially affecting gene expression have been described in promoter regions of MMPs genes (Table 1). In a recent Japanese study the importance of MMP-9 gene -1562C/T promoter polymorphism in the development of pulmonary emphysema in Japanese smokers was suggested (Minematsu et al 2001) and this was reported again in another recent Japanese study (Ito et al 2005). In Caucasians, Joos et al (2002a) showed that the MMP-1 gene G-1607GG promoter polymorphism and the MMP-12 gene Asn357Ser polymorphism in the coding region were associated with the rate of decline in lung function in continuing smokers.…”

Section: Gene Polymorphisms Of Matrix Metalloproteinases In Copdmentioning

confidence: 87%

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

et al. 2008

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Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. Irreversible airflow limitation, both progressive and associated with an inflammatory response of the lungs to noxious particles or gases, is a hallmark of the disease. Cigarette smoking is the most important environmental risk factor for COPD, nevertheless, only approximately 20-30% of smokers develop symptomatic disease. Epidemiological studies, case-control studies in relatives of patients with COPD, and twin studies suggest that COPD is a genetically complex disease with environmental factors and many involved genes interacting together. Two major strategies have been employed to identify the genes and the polymorphisms that likely contribute to the development of complex diseases: association studies and linkage analyses. Biologically plausible pathogenetic mechanisms are prerequisites to focus the search for genes of known function in association studies. Protease-antiprotease imbalance, generation of oxidative stress, and chronic inflammation are recognized as the principal mechanisms leading to irreversible airflow obstruction and parenchymal destruction in the lung. Therefore, genes which have been implicated in the pathogenesis of COPD are involved in antiproteolysis, antioxidant barrier and metabolism of xenobiotic substances, inflammatory response to cigarette smoke, airway hyperresponsiveness, and pulmonary vascular remodelling. Significant associations with COPD-related phenotypes have been reported for polymorphisms in genes coding for matrix metalloproteinases, microsomal epoxide hydrolase, glutathione-S-transferases, heme oxygenase, tumor necrosis factor, interleukines 1, 8, and 13, vitamin D-binding protein and β-2-adrenergic receptor (ADRB2), whereas adequately powered replication studies failed to confirm most of the previously observed associations. Genome-wide linkage analyses provide us with a novel tool to identify the general locations of COPD susceptibility genes, and should be followed by association analyses of positional candidate genes from COPD pathophysiology, positional candidate genes selected from gene expression studies, or dense single nucleotide polymorphism panels across regions of linkage. Haplotype analyses of genes with multiple polymorphic sites in linkage disequilibrium, such as the ADRB2 gene, provide another promising field that has yet to be explored in patients with COPD. In the present article we review the current knowledge about gene polymorphisms that have been recently linked to the risk of developing COPD and/or may account for variations in the disease course.

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Matrix Metalloproteinase-9 Promoter Polymorphism Associated with Upper Lung Dominant Emphysema

Abstract: Polymorphism of MMP-9 (C-1562T) was associated with upper lung dominant emphysema in patients with COPD.

Cited by 142 publications

References 47 publications

Epidemiology of COPD

Epidemiology of COPD

Variability in Small Airway Epithelial Gene Expression Among Normal Smokers

The role of gene polymorphisms in the pathogenesis of chronic obstructive pulmonary disease

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