ArticleBMC medical genetics2015
c.620C>T mutation in GATA4 is associated with congenital heart disease in South India.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Non-Immune Hydrops Fetalis in a Pregnant Woman with Chronic Alcohol Use: A Case Report.International medical case reports journal · 2025Article
- Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.Current medical science · 2022Article
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- The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.BMC cardiovascular disorders · 2021Article
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- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Molecular genetics & genomic medicine · 2019Article
- Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.Current medical science · 2018Article
- Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation.Oncotarget · 2018Article
- Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.Nature communications · 2017Article
- Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.Pediatric cardiology · 2017Article
- Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim of this study was to find the association of GATA4 mutations with CHD among the south Indian CHD patients.
methodGATA4 gene was sequenced in 100 CHD patients (ASD, VSD, TOF and SV) and 200 controls. Functional significance of the observed GATA4 mutations was analyzed using PolyPhen, SIFT, PMut, Plink, Haploview, ESE finder 3.0 and CONSITE.
resultsWe observed a total of 19 mutations, of which, one was in 5' UTR, 10 in intronic regions, 3 in coding regions and 5 in 3' UTR. Of the above mutations, one was associated with Atrial Septal Defect (ASD), two were found to be associated with Tetralogy of Fallot (TOF) and three (rs804280, rs4841587 and rs4841588) were strongly associated with Ventricular Septal Defect (VSD). Interestingly, one promoter mutation (-490 to 100 bp) i.e., 620 C>T (rs61277615, p-value = 0.008514), one splice junction mutation (G>A rs73203482; p-value = 9.6e-3, OR = 6.508) and one intronic mutation rs4841587 (p-value = 4.6e-3, OR = 4.758) were the most significant findings of this study. In silico analysis also proves that some of the mutations reported above are pathogenic.
conclusionThe present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients. In silico analysis provides further evidence that some of the observed mutations are pathogenic.
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