Prevalence of endothelial nitric oxide synthase gene polymorphisms in patients with atopic asthma

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Publikace nespadá pod Pedagogickou fakultu, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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IZAKOVIČOVÁ HOLLÁ Lydie BUČKOVÁ Dana KUHROVÁ Viera STEJSKALOVÁ Andrea FRANCOVÁ Hana ZNOJIL Vladimír VÁCHA Jiří

Rok publikování 2002
Druh Článek v odborném periodiku
Časopis / Zdroj Allergy
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Obor Imunologie
Klíčová slova gene; polymorphism; nitric oxide synthase; NOS3; asthma
Popis 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. 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. Polymerase chain reaction was used to determine the NOS3 genotypes in subjects with atopic asthma (n=163) and random controls (n=209). The NOS3 allele of 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=0.004). In one atopic patient, we identified an additional 27-bp repeat in the NOS3 gene (NOS3c), which occured 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. Neither the NOS3 'b' allelle 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.
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