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
Štítky
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 |
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