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Shabaldin A.V.

Kafedra otorinolaringologii i klinicheskoĭ immunologii Kemerovskoĭ gosudarstvennoĭ meditsinskoĭ akademii MZ RF

Tsepokina A.V.

Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia

Ponasenko A.V.

FGBU NII kompleksnykh problem serdechno-sosudistykh zabolevaniĭ SO RAMN, Kemerovo

Shmulevich S.A.

State Medical University of the Ministry of Health of the Russia, Kemerovo, Russia

Shabaldina E.V.

Kafedra otorinolaringologii i klinicheskoĭ immunologii Kemerovskoĭ gosudarstvennoĭ meditsinskoĭ akademii MZ RF

Peculiarities of alleles and genotypes distribution of genes CRELD1 and GATA6 in mothers of children with sporadic congenital heart diseases

Authors:

Shabaldin A.V., Tsepokina A.V., Ponasenko A.V., Shmulevich S.A., Shabaldina E.V.

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Journal: Russian Journal of Human Reproduction. 2018;24(3): 16‑20

DOI: 10.17116/repro201824316

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To cite this article:

Shabaldin AV, Tsepokina AV, Ponasenko AV, Shmulevich SA, Shabaldina EV. Peculiarities of alleles and genotypes distribution of genes CRELD1 and GATA6 in mothers of children with sporadic congenital heart diseases. Russian Journal of Human Reproduction. 2018;24(3):16‑20. (In Russ.)
https://doi.org/10.17116/repro201824316

 
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Objective — to study the relationship between the CRELD1 and GATA6 maternal genes with septal sporadic CHD without chromosomal diseases in their children. Material and methods. The study group included 103 women who have children with a congenital heart diseases and the comparison group included of 105 mothers who have more than one child without CHD, birth defects and developmental abnormalities. A DNA typification has been performed of four polymorphic variants two genes CRELD1 (int, rs9878047; ex, rs3774207; ex, rs7318372) and GATA6 (rs10454095). Results. A comparison of the main and control groups (case-control) revealed that the maternal heterozygous genotype C/T rs10454095 GATA6 exhibits protective properties (p=0.007; OR (95% CI 0.46 (0.26—0.81), overdominant inheritance model) to the risk of sporadic congenital heart defects. Conclusion. The genes of family congenital heart defects CRELD1, GATA6 could be the candidate genes in a prognostic panel.

Keywords:

congenital heart diseases
polymorphic variants of genes
CRELD1
GATA6
congenital heart diseases
polymorphic variants of genes
CRELD1
GATA6

Authors:

Shabaldin A.V.

Kafedra otorinolaringologii i klinicheskoĭ immunologii Kemerovskoĭ gosudarstvennoĭ meditsinskoĭ akademii MZ RF

Tsepokina A.V.

Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia

Ponasenko A.V.

FGBU NII kompleksnykh problem serdechno-sosudistykh zabolevaniĭ SO RAMN, Kemerovo

Shmulevich S.A.

State Medical University of the Ministry of Health of the Russia, Kemerovo, Russia

Shabaldina E.V.

Kafedra otorinolaringologii i klinicheskoĭ immunologii Kemerovskoĭ gosudarstvennoĭ meditsinskoĭ akademii MZ RF

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