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Prevalence of endothelial nitric oxide synthase gene polymorphisms in patients with atopic asthma
Author(s) -
Hollá L. I.,
Bučková D.,
Kuhrová V.,
Stejskalová A.,
Francová H.,
Znojil V.,
Vácha J.
Publication year - 2002
Publication title -
clinical and experimental allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 154
eISSN - 1365-2222
pISSN - 0954-7894
DOI - 10.1046/j.1365-2745.2002.01445.x
Subject(s) - atopy , asthma , allele , genotype , immunology , linkage disequilibrium , genetics , atopic dermatitis , polymorphism (computer science) , allele frequency , gene polymorphism , biology , immunoglobulin e , medicine , haplotype , gene , antibody
Summary Background Asthma is a common multifactorial disease, the aetiology of which is attributable to both environmental and genetic factors. The endothelial nitric oxide synthase (NOS3) gene has been implicated in asthma pathogenesis. Objective This study investigated associations of 27 base‐pair tandem repeat polymorphism in intron 4 and the Glu298Asp (G894T) variant of the NOS3 gene with atopic asthma in a Czech population. Methods Polymerase chain reaction was used to determine the NOS3 genotypes in subjects with atopic asthma ( n = 163) and random controls ( n = 209). Results The NOS3 allele or genotype distributions did not differ significantly between the control and asthma groups. However, the common genotype (bb) of the NOS3 polymorphism in intron 4 was found to be significantly associated with total IgE levels ( P = 0.006), specific IgE levels for feathers ( P = 0.0002) and a positive skin prick test for hay ( P = 0.004). In one atopic patient, we identified an additional 27‐bp repeat in the NOS3 gene (NOS3c), which occurred in heterozygous combination with the NOS3b allele (NOS3b/c genotype). In addition, we describe a new polymorphism (A5495G) in the NOS3 gene, which was in almost complete linkage disequilibrium with the NOS3 repeat polymorphism in intron 4. The Glu298Asp variant was not associated with asthma and/or related atopic phenotypes in our study. Conclusion Neither the NOS3 ‘b’ allele nor the NOS3 ‘b/b’ genotype showed any general association with atopic asthma, but they were associated with atopy‐related phenotypes. We conclude that the NOS3 gene polymorphisms may act as disease modifiers in atopic asthma phenotype in our population.