2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
P06.027
the role of cytokine gene polymorphisms in the pathogenesis of
childhood asthma
Y. Fedorova1 , A. Karunas1 , N. Ramazanova2 , E. Etkina2 , E. Khusnutdinova1 ;
1 2 Institute of Biochemistry and Genetics, Ufa, Russian Federation, Bashkir
Medical State University, Ufa, Russian Federation.
Asthma is a complex genetic disease characterized by increased airway
responsiveness, reversible airway obstruction, and airway inflammation.
Cytokines have important pathogenic role in this inflammation.
In the present study, we analyzed associations between polymorphic
variants of cytokine and cytokine receptor genes (IL4, IL4RA, IL10,
IL1B, IL1RN) and asthma . The patient group consisted of 150 children
with atopic asthma; the control group included 183 unrelated nonatopic
individuals from Volga-Ural region of Russia . Genotyping was
performed by polymerase chain reaction with specific primers followed
by restriction digestion and gel electrophoresis .
A significant difference was observed in the allele and genotype frequencies
of -627C>A polymorphism of the IL10 gene and -590C>T
polymorphism of the IL4 gene between children with asthma and nonatopic
control (pT and 3953C>T polymorphisms of the IL1B
gene, VNTR-polymorphism of the IL1RN gene, Ile50Val polymorphism
of the IL4RA gene revealed that there are no significant differences in
the frequencies of allele and genotype between asthma patients and
control group (p>0,05) .
In summary, these results provided evidence for a role of IL4 (-590
C>T) and IL10 (-627 C>A) polymorphisms in susceptibility to childhood
asthma in Volga-Ural region of Russia .
P06.028
iL4RA and iL12B gene polymorphisms with atopic asthma and
opistorchosis
I. Saltykova 1 , A. Simakina 1 , E. Bragina 2 , M. Freidin 2 , L. Ogorodova 1 , V. Pusyrev
2 ;
1 Siberian State Medical University, Tomsk, Russian Federation, 2 Institute of
Medical Genetics of Tomsk Scientific Center of Siberian Branch of Russian
Academy of Medical Science, Tomsk, Russian Federation.
Two common polymorphisms of the human IL4RA (I50V) and IL12B
(1188A/C) genes were studied in 150 Russian patients with atopic
bronchial asthma (BA), patients with Opisthorchis felineus helminth
invasion, patients co-affected by these two diseases, and 150 healthy
controls from Tomsk (Russia) . Unlike the previous studies, no association
with any disease was found for IL4RA gene polymorphism . The
1188A/C exchange in the IL12B gene was not associated with BA as
well; however, the 1188C/C genotype prevalence was significantly
higher in opisthorchosis patients as compared to the controls (p