Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.20275 (literal)

Alternative label

• Chappel S.; Daly L.; Morgan K.; Guetta Baranes T.; Roca J.; Rabinovich R.; Millar A.; Donnelly S.; Keatings V.; Macnee W.; Stolk J.; Hiemstra P.; Miniati M.; Monti S.; O'Connor C.; Kalsheker N. (2006)
  Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease
  in Human mutation; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Chappel S.; Daly L.; Morgan K.; Guetta Baranes T.; Roca J.; Rabinovich R.; Millar A.; Donnelly S.; Keatings V.; Macnee W.; Stolk J.; Hiemstra P.; Miniati M.; Monti S.; O'Connor C.; Kalsheker N. (literal)

Pagina inizio

• 103 (literal)

Pagina fine

• 109 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://onlinelibrary.wiley.com/store/ (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 27 (literal)

Rivista

• Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

• In: Human Mutation, vol. 27 (1) pp. 103-109. InterScience, 2006. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 7 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Division of Clinical Chemistry, Molecular Medical Sciences, Institute of Genetics, University Hospital, Queens Medical Centre, University ofNottingham, Nottingham, United Kingdom; Department of Public Health Medicine and Epidemiology, Conway Institute, University College Dublin, Dublin, Ireland; Department of Medicine and Therapeutics, Conway Institute, University College Dublin, Dublin, Ireland; Service dePneumologia, Hospital Clinic, Hospital Clinico y Provincial de Barcelona, Barcelona, Spain; Lung Research Group, Department of Clinical Science at North Bristol, Southmead Hospital, University of Bristol, Bristol, United Kingdom; Letterkenny General Hospital, Letterkenny,Ireland; Respiratory Medicine, ELEGI Colt Laboratories, University of Edinburgh, Edinburgh, United Kingdom; Department of Pulmonology (C3-P), Leiden University Medical Center, Leiden, The Netherlands; CNR Institute of Clinical Physiology, Pisa, Italy (literal)

Titolo

• Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease (literal)

Abstract

• Chronic obstructive pulmonary disease (COPD) is a major cause of mortality and morbidity worldwide. While cigarette smoking is a major cause of COPD, only 15% of smokers develop the disease, indicating major genetic influences. The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role. To detect cryptic genetic variants that might contribute to disease, we identified 15 SNP haplotype tags from high-density SNP maps of the two genes and evaluated these SNPs in the largest case-control genetic study of COPD conducted so far. For SERPINA1, six newly identified haplotypes with a common backbone of five SNPs were found to increase the risk of disease by six- to 50-fold, the highest risk of COPD reported to date. In contrast, no haplotype associations for SERPINA3 were identified. (literal)

Editore

• WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST (Editore)

Prodotto di

• Ricerca Cardiopolmonare (ME.P01.004.001) (Modulo)
• Istituto di fisiologia clinica (IFC) (Istituto)

Autore CNR

• SIMONETTA MONTI (Unità di personale interno)
• MASSIMO MINIATI (Unità di personale esterno)

Insieme di parole chiave

• Keywords of "Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• SIMONETTA MONTI (Unità di personale interno)
• MASSIMO MINIATI (Unità di personale esterno)

Prodotto

• Istituto di fisiologia clinica (IFC) (Istituto)
• Ricerca Cardiopolmonare (ME.P01.004.001) (Modulo)

Editore di

• WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST (Editore)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Keywords of "Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease" (Insieme di parole chiave)