Two functional variants of the superoxide dismutase genes in Finnish families with asthma
Background: Functional polymorphisms in the genes encoding superoxide dismutases (SOD)—that is, superoxide scavenging antioxidant enzymes—may play an important role in the development of inflammatory airway diseases such as asthma. Methods: The allele frequencies of two missense polymorphisms of SOD...
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Published in | Thorax Vol. 59; no. 2; pp. 116 - 119 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd and British Thoracic Society
01.02.2004
BMJ BMJ Publishing Group Ltd BMJ Publishing Group LTD BMJ Group |
Subjects | |
Online Access | Get full text |
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Summary: | Background: Functional polymorphisms in the genes encoding superoxide dismutases (SOD)—that is, superoxide scavenging antioxidant enzymes—may play an important role in the development of inflammatory airway diseases such as asthma. Methods: The allele frequencies of two missense polymorphisms of SOD genes (Ala16Val in MnSOD (SOD2) and Arg213Gly in ECSOD (SOD3)) were investigated in Finnish patients with asthma and compared with family based controls. Both variants have been shown to be functionally interesting in the lung. The polymorphism at the exon–intron 3 boundary of a third SOD, CuZnSOD (SOD1), was also included in the analysis. Results: None of the SOD genetic variants studied appeared to be major genetic regulators in the development of asthma. We could exclude all models of inheritance that increased the risk of asthma more than 1.2 fold for MnSOD*Val (frequency of allele 0.74 in the population) and more than 6.6 fold for ECSOD*Gly213 (frequency of allele 0.03 in the population) compared with non-carriers. For the intronic polymorphism in CuZnSOD, a relative risk of more than 3.3 (frequency of allele 0.10 in the population) could be excluded. Conclusions: It is highly unlikely that the functionally important genetic variants Ala16Val and Arg213Gly of SODs play a major role in the genetic susceptibility of asthma. |
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Bibliography: | local:0590116 ark:/67375/NVC-LHJKKLRJ-L PMID:14760150 Correspondence to: Dr V Kinnula University of Helsinki, Department of Medicine, Pulmonary Division, PO Box 340 (Haartmanink 4), FIN-00029 HUS, Finland; vuokko.kinnula@helsinki.fi href:thoraxjnl-59-116.pdf istex:3D944005315DB7410740E51F6B0435A83DEF2DD7 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0040-6376 1468-3296 |
DOI: | 10.1136/thorax.2003.005611 |