ArticleMolecular genetics & genomic medicine2019
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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24 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Pooled it
- Combined effects of maternal periconceptional environmental exposures and infant cardiac transcription factor polymorphisms on congenital heart disease risk.Annals of medicine · 2026Article
- Inhibition ofPediatric discovery · 2026Article
- Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.Pediatric cardiology · 2026Article
- Genetic polymorphisms of theFrontiers in genetics · 2026Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Targeting senescence and GATA4 in age-related cardiovascular disease: a comprehensive approach.Biogerontology · 2025Review
- Decoding congenital heart disease: a multi-omic framework for cardiac lineage and regulatory dysfunction.Frontiers in cell and developmental biology · 2025Review
- A Novel Missense Heterozygous Mutation inJournal of pediatric genetics · 2024Article
- Article
- Bioinformatic Multi-Strategy Profiling of Congenital Heart Defects for Molecular Mechanism Recognition.International journal of molecular sciences · 2024Article
- Review
- Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.Italian journal of pediatrics · 2024Article
- Article
- Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.Molecular biology reports · 2023Article
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population.Journal of clinical laboratory analysis · 2022Article
- NKX2-5 variants screening in patients with atrial septal defect in Indonesia.BMC medical genomics · 2022Article
- CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart.Genes & development · 2022Article
- Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant ofFrontiers in cardiovascular medicine · 2022Article
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5 authors at 2 institutions in 1 country.
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Abstract
backgroundSeveral genes encoding transcription factors are known to be the primary cause of congenital heart disease. NKX2-5 and GATA4 were the first congenital heart disease-causing genes identified by linkage analysis. This study designed to study the association of five single-nucleotide variants of NKX2-5, GATA4, and TBX5 genes with sporadic nonsyndromic cases of a congenital cardiac septal defect in Egyptian children.
methodsVenous blood samples from 150 congenital heart disease children (including a ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus) and 90 apparently healthy of matched age and sex were studied by polymerase chain reaction followed by direct sequencing in order to study two single-nucleotide variants of NKX2-5 (rs2277923, rs28936670), two single-nucleotide variants of GATA4 (rs368418329, rs56166237) and one single-nucleotide variant TBX5 (rs6489957). The distribution of genotype and allele frequency in the congenital heart diseases (CHD) group and control group were analyzed.
resultsWe found different genotype frequencies of the two variants of NKX2-5, as CT genotype of rs2277923 was present in 58% and 36% in cases and control respectively, and TT genotype present in 6% of the cases. Also regarding missense variant rs28936670, heterozygous AG presented in 82% of the cases. Also, we observed a five prime UTR variant rs368418329, GT (42% of the cases) and GG (46% of the cases) genotypes showed the most frequent presentation in cases. While regarding a synonymous variant rs56166237, GT and GG were the most presented in cases (41.4%, 56% respectively) in contrast to control group (20%, 1.7% respectively). Also, a synonymous variant in TBX5, the distribution of genotype frequency was significantly different between the CHD group and control group. CT genotype of TBX5 -rs6489957 was found in 12 ASD, 24 VSD, six PDA, three aortic coarctation and nine fallot that represent 42% of the cases.
conclusionsSignificantly higher frequency of different allelle of five variants was observed in cases when compared to the control group, with significant risky effect for the development of septal defect. In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease.
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