Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies
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 th...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2022-06-01
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| Series: | Balkan Journal of Medical Genetics |
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| Online Access: | https://doi.org/10.2478/bjmg-2021-0028 |
| _version_ | 1797718685597564928 |
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| author | Wang E Fan X Nie Y Zheng Z Hu S |
| author_facet | Wang E Fan X Nie Y Zheng Z Hu S |
| author_sort | Wang E |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T08:53:58Z |
| format | Article |
| id | doaj.art-91cd9383201d4e84a609e331624908f5 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T08:53:58Z |
| publishDate | 2022-06-01 |
| publisher | Sciendo |
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| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-91cd9383201d4e84a609e331624908f52023-09-02T16:10:20ZengSciendoBalkan Journal of Medical Genetics1311-01602022-06-01242394710.2478/bjmg-2021-0028Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac AnomaliesWang E0Fan X1Nie Y2Zheng Z3Hu S4Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100037, ChinaClinical Laboratory Center, Beijing An Zhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel DiseasesBeijing, 100029, ChinaState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100037, ChinaCardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100037, ChinaCardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100037, ChinaMultiple 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.https://doi.org/10.2478/bjmg-2021-0028polymorphismstranscription factorcongenital cardiac anomaly |
| spellingShingle | Wang E Fan X Nie Y Zheng Z Hu S Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies Balkan Journal of Medical Genetics polymorphisms transcription factor congenital cardiac anomaly |
| title | Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies |
| title_full | Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies |
| title_fullStr | Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies |
| title_full_unstemmed | Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies |
| title_short | Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies |
| title_sort | single nucleotide polymorphisms in exonic and promoter regions of transcription factors of second heart field associated with sporadic congenital cardiac anomalies |
| topic | polymorphisms transcription factor congenital cardiac anomaly |
| url | https://doi.org/10.2478/bjmg-2021-0028 |
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