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.

Basic information

Original name

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

Authors

IZAKOVIČOVÁ HOLLÁ, Lydie (203 Czech Republic, guarantor), Dana BUČKOVÁ (203 Czech Republic), Viera KUHROVÁ (203 Czech Republic), Andrea STEJSKALOVÁ (203 Czech Republic), Hana FRANCOVÁ (203 Czech Republic), Vladimír ZNOJIL (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30102 Immunology

Country of publisher

Denmark

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.666

RIV identification code

RIV/00216224:14110/02:00007680

Organization unit

Faculty of Medicine

UT WoS

000186177501024

Keywords in English

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

Abstract

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.

Links

MSM 141100002, plan (intention)
Name: Molekulární patofyziologie multigenních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases