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Dorina Savoschin

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

EVALUAREA RISCULUI GENETIC PENTRU ASTMUL BRONSIC LA COPII CU AJUTORUL SOFTULUI GENERALIZED MULTIFACTOR DIMENSIONALITY REDUCTION

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 2, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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EVALUAREA RISCULUI GENETIC PENTRU ASTMUL BRONSIC LA COPII CU AJUTORUL SOFTULUI GENERALIZED MULTIFACTOR DIMENSIONALITY REDUCTION

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REZUMAT

Astmul bronşic reprezintă o maladie multifactorială, fiind determinată de numeroase interacţiuni intergenice şi cu factorii de mediu. Metode statistice tradiţionale, utilizate pentru analiza rezultatelor studiilor caz-control, nu permit evaluarea profundă a riscului de dezvoltare a bolii asociat mutaţiior genice. Software-ul GMDR (Generalized Multifactor Dimensionality Reduction, versiunea Beta 0.9) a fost aplicat cu succes în studiile genetice la pacienţii cu cancer, hipertensiune arterială, diabet ş.a.

Obiectivul lucrării a constituit utilizarea programului computerizat GMDR în scopul evaluării rolului interacţiunilor intergenice asupra riscului de dezvoltare a astmului bronşic la copiii moldoveni.

Material si metodă. Studiul de tip caz-control a fost realizat pe un lot de 180 de copii: 90 de copii cu astm bronşic şi 90 copii sănătoşi în lotul de control, fiind comparabili după vârstă şi sex. Software-ul GMDR (versiunea Beta 0.9) a fost utilizat pentru ajustarea covariabilelor discrete şi cantitative. A fost evaluată asocierea riscului de dezvoltare a astmului bronşic cu un şir de polimorfisme genice: polimorfismul de deleţie a genelor GSTТ1 şi GSTM1; GSTP1 313 A > G; NAT2 481 C > T, 590 G > A şi 857 G > A; IL-4 -590 C > T; IL-4Rα Arg551Gln; TNFα -308 G > A; repetitivităţile ААТ ale genei NOS1 în intronul 20; CC16 38 G > A.

Rezultate. Analiza datelor în studiu cu ajutorul software-ului GMDR a permis identificarea combinaţiei de polimorfisme ale genelor-candidate pentru astmul bronşic (GSTT1+, NAT2 *5-*7/*5-*7, NOS1 <12/>12 şi IL-4 -590 C/C) care majorează de 3,6 ori riscul de dezvoltare a maladiei (OR = 3,61; CI 95% 1,45-8,99; p < 0,01).

Concluzii. Rezultatele studiului demonstrează faptul că interacţiunile genice interferează la diferite niveluri ale mecanismelor fiziopatologice de dezvoltare ale astmului bronşic la copii. Analiza modelelor de interacţiune prin aplicarea software-ului GMDR în grupul de studiu indică asocierea riscului de dezvoltare a maladiei în special cu polimorfismul genelor de metabolizare a xenobioticelor şi a genei implicate în producerea oxidului nitric la nivelul mucoasei căior respiratorii.

Cuvinte cheie: astm bronşic, copil, factor de risc, polimorfism genic, software-ul GMDR

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EVALUATION OF GENETIC RISK FACTORS FOR CHILDHOOD ASTHMA USING GENERALIZED MULTIFACTOR DIMENSIONALITY REDUCTION SOFTWARE

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 2, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

EVALUATION OF GENETIC RISK FACTORS FOR CHILDHOOD ASTHMA USING GENERALIZED MULTIFACTOR DIMENSIONALITY REDUCTION SOFTWARE

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ABSTRACT

Asthma is a multifactorial disease caused by numerous genetic interrelations and also gene-environment interactions. Traditional statistical methods applied for case-control studies in do not offer the possibility for in-depth analysis of the genetic risk because of the “dimensionality” problem. The Generalized Multifactor Dimensionality Reduction software was successfully applied in genetic studies of cancer, hypertension, diabetes, etc. The aim of our study was to use the GMDR software to analyze the role of genetic interrelations on asthma development in Moldovan children.

Materials and methods. The case-control study included 180 children: 90 children with asthma and 90 healthy controls comparable by age and gender. The GMDR software Beta 0,9 was applied to adjust for discrete quantitative data and covariates. Association of genetic polymorphisms (GSTТ1 and GSTM1 gene deletions; GSTP1 313 A > G; NAT2 481 C > T, 590 G > A and 857 G > A; IL-4 -590 C > T, IL-4Rα Arg551Gln; TNFα -308 G > A; (ААТ)n repetitions in intron 20 of the NOS1 gene; and CC16 38 G > A) with the risk of developing asthma was studied.

Results. Data analysis using the GMDR method resulted with identifi cation of a combination of four genotypes (GSTT1+, NAT2 *5-*7/*5-*7, NOS1 <12/>12, and IL-4 -590 C/C) that increases by 3.6 folds the risk of childhood asthma development (OR = 3.61; CI 95% 1,45-8,99; p < 0,01).

Conclusions. Gene-gene interactions interfere at different levels of pathophysiological mechanisms of childhood asthma development. Analysis of the interaction models generated by the GMDR software based on study data showed a signifi cant association between asthma risk and polymorphisms in two important groups of genes – xenobiotic-metabolizing genes and the gene responsible for nitric oxide synthesis in airway mucosa.

Keywords: asthma, child, risk factor, genetic polymorphism, GMDR software

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