J 2002

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

IZAKOVIČOVÁ HOLLÁ, Lydie, Dana BUČKOVÁ, Viera KUHROVÁ, Andrea STEJSKALOVÁ, Hana FRANCOVÁ et. al.

Základní údaje

Originální název

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

Autoři

IZAKOVIČOVÁ HOLLÁ, Lydie (203 Česká republika, garant), Dana BUČKOVÁ (203 Česká republika), Viera KUHROVÁ (203 Česká republika), Andrea STEJSKALOVÁ (203 Česká republika), Hana FRANCOVÁ (203 Česká republika), Vladimír ZNOJIL (203 Česká republika) a Jirí VÁCHA (203 Česká republika)

Vydání

Clin Exp Allergy, England, Blackwell Science, 2002, 0954-7894

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.721

Kód RIV

RIV/00216224:14110/02:00005702

Organizační jednotka

Lékařská fakulta

UT WoS

000177506100014

Klíčová slova anglicky

nitric oxide synthase; gene; polymorphism; asthma; allergic disease
Změněno: 17. 6. 2009 12:38, prof. MUDr. Lydie Izakovičová Hollá, Ph.D.

Anotace

V originále

Asthma is a common multifactorial disease, the etiology 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 or genotype distributions did not significantly differ 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. 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.

Návaznosti

MSM 141100002, záměr
Název: Molekulární patofyziologie multigenních chorob
Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární patofyziologie multigenních chorob