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 Jiří VÁCHA (203 Česká republika)

Vydání

Allergy, Denmark, Munksgaard International Publishers, 2002, 0105-4538

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Dánsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.666

Kód RIV

RIV/00216224:14110/02:00007680

Organizační jednotka

Lékařská fakulta

UT WoS

000186177501024

Klíčová slova anglicky

gene; polymorphism; nitric oxide synthase; NOS3; asthma
Změněno: 17. 6. 2009 12:08, prof. MUDr. Lydie Izakovičová Hollá, Ph.D.

Anotace

V originále

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.

Návaznosti

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