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SM ISO690:2012 CÎRSTEA (BUGA), Olga. Răspândirea polimorfismelor genelor cu impact în dezvoltarea astmului bronşic în populaţia de moldoveni
. In: Buletin de Perinatologie, 2012, nr. 3, pp. 12-16. ISSN 1810-5289. |
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Buletin de Perinatologie | |||||
Numărul 3 / 2012 / ISSN 1810-5289 | |||||
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Pag. 12-16 | |||||
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Rezumat | |||||
Background: Bronchial asthma is a highly prevalent chronic infl ammatory disease of the respiratory tract, which
development involves numerous immune mechanisms based on the interaction of genetic and environmental factors.
Thus, research of the genetic background of asthma mechanisms in ethnically diverse populations is of highly interest.
The study was aimed to evaluate the spread of asthma candidate genes in the population group of healthy Moldovans.
Material and methods: The studied population included 97 conditionally healthy Moldovans who showed no signs
or history of allergic diseases, of which 92,8% were children (mean age 13,5±0,2 years). Gene frequency of several groups
of candidate genes in the population was studied: genes coding for the xenobiotic-metabolizing enzymes (GSTT1,
GSTM1, GSTP1 and NAT2), genes of the immune infl ammation mediators (IL-4, IL-4Rα and TNFα) and genes playing
a protective role in the infl ammatory process at the level of the respiratory tract – NOS1 and CC16.
Results: analysis of the xenobiotic-metabolizing enzymes genes frequency in the studied population showed a prevalence
of normal variants of GST genes, compared to functionally compromised once. Thus, normal genotype GSTT1
was identifi ed in 67,0±5,8% of subjects, genotype GSTM1 in 52,6±6,9%, wild homozygous genotypes Ile105Ile and
Ala114Ala of the GSTP1 gene polymorphisms were found in 45,4±7,5% and 72,2±5,4% of subjects, respectively. A
different situation was seen for the polymorphisms of the NAT2 gene – the study revealed a high carriage of moderate
and slow acetylator alleles in 94,8% of healthy subjects. Polymorphic variants of infl ammatory mediator genes were
found in approximately one-thirds of healthy participants. The homozygous genotype NOS1 >12/>12 that is shown to
be associated with asthma in other studies was identifi ed only in 16,5±9,3%, while polymorphic variants of the CC16
gene were signifi cantly more frequent then the wild type (60,8±6,4% и 39,2±7,9%; p<0,05).
Conclusions: The study revealed a high percentage of polymorphic variants of asthma candidate genes in healthy
population of the republic. Thus, there were identifi ed an increased number of carriers of functionally compromised
genes that codes xenobiotic-metabolizing enzymes and CC16 gene. These fi ndings suggest a potentially raised susceptibility
to negative environmental infl uences and predisposition to respiratory morbidity in this particular group. |
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Cuvinte-cheie atopy, asthma, candidate genes, polymorphism, population |
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