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

<p>Multiple second heart field (SHF) transcription factors are involved in cardiac development. In this article we evaluate the relationship between SHF transcription factor polymorphisms and congenital heart disease (CHD). Ten polymorphisms were used for genotyping, and three of these were used for the luciferase assay. The risk of CHD was increased 4.31 times and 1.54 times in the C allele of <italic>GATA5</italic>: rs6061243 G>C and G allele of <italic>TBX20</italic>: rs336283 A>G, respectively. The minor alleles of <italic>SMYD1</italic>: rs1542088 T>G, <italic>MEF2C</italic>: rs80043958 A>G and <italic>GATA5</italic>: rs6587239 T>C increased the risk of the simple types of CHD. The minor alleles of <italic>GATA5</italic>: rs41305803 G>A and <italic>MEF2C</italic>: rs304154 A>G increased the risk of tetralogy of Fallot (TOF). The minor alleles of <italic>TBX20</italic>: rs336284 A>G and <italic>SMYD1</italic>: rs88387557 T>G only increased the risk of a single ventricle (SV). Luciferase assays revealed that the minor alleles of rs304154 and rs336284 decreased the transcriptional levels of <italic>MEF2C</italic> and <italic>TBX20,</italic> respectively (p&lt;0.01). When combined with <italic>HLTF</italic>, the G promoter showed a higher expression level than the A promoter in rs80043958 (p&lt;0.01). Our findings suggest that minor alleles of SNPs in the exonic and promoter regions of transcription factors in the SHF can increase the risks of sporadic CHD.</p>
</abstract>

Multiple second heart field (SHF) transcription factors are involved in cardiac development. In this article we evaluate the relationship between SHF transcription factor polymorphisms and congenital heart disease (CHD). Ten polymorphisms were used for genotyping, and three of these were used for the luciferase assay. The risk of CHD was increased 4.31 times and 1.54 times in the C allele of GATA5: rs6061243 G>C and G allele of TBX20: rs336283 A>G, respectively. The minor alleles of SMYD1: rs1542088 T>G, MEF2C: rs80043958 A>G and GATA5: rs6587239 T>C increased the risk of the simple types of CHD. The minor alleles of GATA5: rs41305803 G>A and MEF2C: rs304154 A>G increased the risk of tetralogy of Fallot (TOF). The minor alleles of TBX20: rs336284 A>G and SMYD1: rs88387557 T>G only increased the risk of a single ventricle (SV). Luciferase assays revealed that the minor alleles of rs304154 and rs336284 decreased the transcriptional levels of MEF2C and TBX20, respectively (p<0.01). When combined with HLTF, the G promoter showed a higher expression level than the A promoter in rs80043958 (p<0.01). Our findings suggest that minor alleles of SNPs in the exonic and promoter regions of transcription factors in the SHF can increase the risks of sporadic CHD.

Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies

Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences

State Key Laboratory of Cardiovascular Disease, Fuwai Hospital

Clinical Laboratory Center, Beijing An Zhen Hospital

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Multiple second heart field (SHF) transcription factors are involved in cardiac development. In this article we evaluate the relationship between SHF...

Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies

Article Category: Original Article

Published Online: Jun 05, 2022

Page range: 39 - 47

DOI: https://doi.org/10.2478/bjmg-2021-0028

Keywords
Polymorphisms, Transcription factor, Congenital cardiac anomaly

© 2021 E Wang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies

Article Category: Original Article

Published Online: Jun 05, 2022

Page range: 39 - 47

DOI: https://doi.org/10.2478/bjmg-2021-0028

KeywordsPolymorphisms, Transcription factor, Congenital cardiac anomaly

© 2021 E Wang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
Polymorphisms, Transcription factor, Congenital cardiac anomaly