For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
32
views
66
references
 Top references
cited by
22
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      425
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: not found

      The genetics of chronic obstructive pulmonary disease

      review-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Chronic obstructive pulmonary disease (COPD) is a significant cause of global morbidity and mortality. Previous studies have shown that COPD aggregates in families, suggesting a genetic predisposition to airflow obstruction. Many candidate genes have been assessed, but the data are often conflicting. We review the genetic factors that predispose smokers to COPD and highlight the future role of genomic scans in identifying novel susceptibility genes.

          Related collections

          Most cited references66

          • Record: found
          • Abstract: found
          • Article: not found

          The natural history of chronic airflow obstruction.

          C. Fletcher, R. Peto (1977)
          A prospective epidemiological study of the early stages of the development of chronic obstructive pulmonary disease was performed on London working men. The findings showed that forced expiratory volume in one second (FEV1) falls gradually over a lifetime, but in most non-smokers and many smokers clinically significant airflow obstruction never develops. In susceptible people, however, smoking causes irreversible obstructive changes. If a susceptible smoker stops smoking he will not recover his lung function, but the average further rates of loss of FEV1 will revert to normal. Therefore, severe or fatal obstructive lung disease could be prevented by screening smokers' lung function in early middle age if those with reduced function could be induced to stop smoking. Infective processes and chronic mucus hypersecretion do not cause chronic airflow obstruction to progress more rapidly. There are thus two largely unrelated disease processes, chronic airflow obstruction and the hypersecretory disorder (including infective processes).
          Article 0 comments Cited 369 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation.

            A Wilson, J A Symons, T McDowell … (1997)
            Tumor necrosis factor alpha (TNF alpha) is a potent immunomodulator and proinflammatory cytokine that has been implicated in the pathogenesis of autoimmune and infectious diseases. For example, plasma levels of TNF alpha are positively correlated with severity and mortality in malaria and leishmaniasis. We have previously described a polymorphism at -308 in the TNF alpha promoter and shown that the rare allele, TNF2, lies on the extended haplotype HLA-A1-B8-DR3-DQ2, which is associated with autoimmunity and high TNF alpha production. Homozygosity for TNF2 carries a sevenfold increased risk of death from cerebral malaria. Here we demonstrate, with reporter genes under the control of the two allelic TNF promoters, that TNF2 is a much stronger transcriptional activator than the common allele (TNF1) in a human B cell line. Footprint analysis using DNase I and B cell nuclear extract showed the generation of a hypersensitive site at -308 and an adjacent area of protection. There was no difference in affinity of the DNA-binding protein(s) between the two alleles. These results show that this polymorphism has direct effects on TNF alpha gene regulation and may be responsible for the association of TNF2 with high TNF alpha phenotype and more severe disease in infections such as malaria and leishmaniasis.
            Article 0 comments Cited 228 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Requirement for Macrophage Elastase for Cigarette Smoke-Induced Emphysema in Mice

              Steven Shapiro, R. Dean Hautamaki, Dale K Kobayashi … (1997)
              To determine which proteinases are responsible for the lung destruction characteristic of pulmonary emphysema, macrophage elastase-deficient (MME-/-) mice were subjected to cigarette smoke. In contrast to wild-type mice, MME-/- mice did not have increased numbers of macrophages in their lungs and did not develop emphysema in response to long-term exposure to cigarette smoke. Smoke-exposed MME-/- mice that received monthly intratracheal instillations of monocyte chemoattractant protein-1 showed accumulation of alveolar macrophages but did not develop air space enlargement. Thus, macrophage elastase is probably sufficient for the development of emphysema that results from chronic inhalation of cigarette smoke.
              Article 0 comments Cited 139 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Respir Res
                Title: Respiratory Research
                Publisher: BioMed Central
                ISSN (Print): 1465-9921
                ISSN (Electronic): 1465-993X
                Publication date (Print): 2001
                Publication date (Electronic): 11 January 2001
                Volume: 2
                Issue: 1
                Pages: 20-26
                Affiliations
                [1 ]Department of Medicine, University of Cambridge, Cambridge, UK
                [2 ]Brigham and Women's Hospital, Boston, Massachusetts, USA
                Article
                Publisher ID: rr34
                DOI: 10.1186/rr34
                PMC ID: 59565
                PubMed ID: 11686861
                SO-VID: c41638f0-0083-4265-b6ac-9b6325594fe3
                Copyright © Copyright © 2001 BioMed Central Ltd
                History
                Date received : 21 November 2000
                Date accepted : 11 December 2000
                Categories
                Subject: Review

                ScienceOpen disciplines: Respiratory medicine
                Keywords: association studies,lungs,chronic obstructive pulmonary disease,genetics,emphysema
                Data availability:
                ScienceOpen disciplines: Respiratory medicine
                Keywords: association studies, lungs, chronic obstructive pulmonary disease, genetics, emphysema

                Comments

                Comment on this article

                scite_

                Similar content425

                See all similar

                Cited by21

                See all cited by

                Most referenced authors846

                See all reference authors