Document Detail

Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations.
MedLine Citation:
PMID:  17960156     Owner:  NLM     Status:  MEDLINE    
Endothelin-1 (EDN1) has been reported to be implicated in the pathophysiology of asthma. Literature results on the genetic association of EDN1 in asthma are inconsistent. Eleven single nucleotide polymorphisms in EDN1 were genotyped in 342 and 100 families from UK and Norway, respectively. Asthma, bronchial hyperreactivity (BHR) and atopic asthma phenotypes were analyzed for the family-based association. Five single nucleotide polymorphisms (SNPs) were associated with asthma (0.0017<or=P<or=0.0291), five with BHR (0.0026<or=P<or=0.0315) and three with atopic asthma (0.0016<or=P<or=0.041) in the UK population. Three SNPs were associated with asthma (0.0041<or=P<or=0.019), seven with BHR (0.0018<or=P<or=0.041) and two with atopic asthma (0.0123<or=P<or=0.0153) in the Norwegian population. A polymorphism (rs1800541) in the promoter region of EDN1 was replicated in the two populations. A nonsynonymous coding polymorphism (rs5370) resulting in a change of amino acid Asn to Lys at position 198 was also replicated. The results of haplotype-based association analyses strongly supported the ones of single SNP associations. This study demonstrates the significant evidence of association between polymorphisms in EDN1 and asthma.
G Zhu; K Carlsen; K-H Carlsen; W Lenney; M Silverman; M K Whyte; L Hosking; P Helms; A D Roses; D W Hay; M R Barnes; W H Anderson; S G Pillai
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-25
Journal Detail:
Title:  Genes and immunity     Volume:  9     ISSN:  1476-5470     ISO Abbreviation:  Genes Immun.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-23     Completed Date:  2008-03-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100953417     Medline TA:  Genes Immun     Country:  England    
Other Details:
Languages:  eng     Pagination:  23-9     Citation Subset:  IM    
Medical Genetics, GlaxoSmithKline, Research Triangle Park, NC 27709, USA.
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MeSH Terms
Asthma / genetics*
Case-Control Studies
Data Interpretation, Statistical
Endothelin-1 / genetics*
Gene Frequency
Genetic Markers
Genetics, Population*
Great Britain
Linkage Disequilibrium
Polymorphism, Single Nucleotide / genetics*
Statistics as Topic
Reg. No./Substance:
0/Endothelin-1; 0/Genetic Markers

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