<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the <italic>NFKB1</italic> gene polymorphism (–94ins/ delATTG), rs28362491, <italic>NKX2-5</italic> gene polymorphism rs2277923, <italic>GATA4</italic> gene polymorphism rs11785481 and <italic>RANKL</italic> gene polymorphism <italic>rs4531631</italic>. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of <italic>NFKB1</italic>, <italic>NKX2-5</italic>, <italic>GATA4</italic> and <italic>RANKL</italic>. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (<italic>p</italic> = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (<italic>p</italic> = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (<italic>p</italic> >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.</p></abstract>

Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.

Association of <italic>NFKB1</italic>, <italic>NKX2-5</italic>, <italic>GATA4</italic> and <italic>RANKL</italic> gene polymorphisms with sporadic congenital heart disease in Greek patients

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Association of , ,  and  gene polymorphisms with sporadic congenital heart disease in Greek patients

Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and...

Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

Article Category: Original Article

Published Online: Jul 27, 2021

Page range: 15 - 20

DOI: https://doi.org/10.2478/bjmg-2021-0014

Keywords
Congenital heart disease (CHD), (–94ins/delATTG),

© 2021 Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani L, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

Article Category: Original Article

Published Online: Jul 27, 2021

Page range: 15 - 20

DOI: https://doi.org/10.2478/bjmg-2021-0014

KeywordsCongenital heart disease (CHD), (–94ins/delATTG),

© 2021 Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani L, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
Congenital heart disease (CHD), (–94ins/delATTG),