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- Levin, Malin,1973Gothenburg University,Göteborgs universitet,Wallenberglaboratoriet,Wallenberg Laboratory (författare)
A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure.
- Artikel/kapitelEngelska2000
Förlag, utgivningsår, omfång ...
- Oxford University Press (OUP),2000
Nummerbeteckningar
- LIBRIS-ID:oai:gup.ub.gu.se/121466
- https://gup.ub.gu.se/publication/121466URI
- https://doi.org/10.1053/euhj.1999.1994DOI
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- Språk:engelska
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- AIMS: The adrenergic nervous system is of major importance in congestive heart failure. No genetic polymorphism has previously been identified in the beta(1)-adrenergic receptor gene. The aim of this study was to find possible mutations in this gene and to relate such findings to morbidity and prognosis in heart failure. METHODS AND RESULTS: Genomic DNA was extracted from blood leukocytes from patients with congestive heart failure (n=184) and from age-matched controls (n=77). The part of the beta(1)-adrenergic receptor gene corresponding to nucleotide 1-255 was amplified by polymerase chain reaction and analysed by automated sequencing. The patients were investigated by echocardiography and followed regarding symptoms and survival for 5 years. A missense mutation was identified at nucleotide position 145 in the beta(1)-adrenergic receptor gene, which predicted an amino acid substitution at position 49 (Ser49Gly). The allele frequency of the Gly49 variant was 0.13 in controls and 0.18 in patients (P=0.19). At the time of the 5-years follow-up, 62% of the patients with the wild type gene and 39% of the patients with the Ser49Gly variant had died or had experienced hospitalization (P=0.005). Patients without the mutation had significantly poorer survival compared to those with the mutation, risk ratio 2.34 (95% CI 1.30-4.20), P=0.003. In a mulivariate analysis, the risk ratio was 2.03 (95% CI 0.99-4.16) P=0.05. CONCLUSION: A novel missense mution in the beta(1)-adrenergic receptor gene was associated with a decreased mortality risk in patients with congestive heart failure. These data suggest that the beta(1)-receptor Ser49Gly variant might be associated with altered receptor function, resulting in myocardial protection in patients with heart failure.
Ämnesord och genrebeteckningar
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Cell- och molekylärbiologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Cell and Molecular Biology hsv//eng
- Adolescent
- Adult
- Amino Acid Substitution
- Base Sequence
- genetics
- Follow-Up Studies
- Heart Failure
- genetics
- mortality
- Humans
- Middle Aged
- Mutation
- Missense
- physiology
- Polymorphism
- Genetic
- physiology
- Receptors
- Adrenergic
- beta
- genetics
- Reference Values
- Survival Analysis
Biuppslag (personer, institutioner, konferenser, titlar ...)
- Magnusson, Yvonne,1957Gothenburg University,Göteborgs universitet,Wallenberglaboratoriet,Hjärt-kärlinstitutionen,Wallenberg Laboratory,Cardiovascular Institute(Swepub:gu)xmagyv (författare)
- Hjalmarson, Åke,1937Gothenburg University,Göteborgs universitet,Hjärt-kärlinstitutionen,Wallenberglaboratoriet,Cardiovascular Institute,Wallenberg Laboratory(Swepub:gu)xhjala (författare)
- Andersson, Bert,1952Gothenburg University,Göteborgs universitet,Hjärt-kärlinstitutionen,Wallenberglaboratoriet,Cardiovascular Institute,Wallenberg Laboratory(Swepub:gu)xanber (författare)
- Göteborgs universitetWallenberglaboratoriet (creator_code:org_t)
Sammanhörande titlar
- Ingår i:European heart journal: Oxford University Press (OUP)21:22, s. 1853-80195-668X
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