ArticleInternational journal of clinical and experimental pathology2015
Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
Article in International journal of clinical and experimental pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- 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
- Association between single-nucleotide polymorphisms ofOpen life sciences · 2022Article
- The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2021Article
- Association ofBalkan journal of medical genetics : BJMG · 2021Article
- Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study.Medicine · 2020Observational
- The Functional Polymorphism R129W in theGenetic testing and molecular biomarkers · 2019Article
- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Molecular genetics & genomic medicine · 2019Article
- High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.Journal of endocrinological investigation · 2018Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart disease (CHD) is the most common birth abnormality, especially for sporadic CHD. However, the etiology of sporadic CHD is largely unknown. NKX2-5, the earliest sign of cardiac progenitor cell differentiation, plays a key role in cardiac morphogenesis, and the mutation of this gene can cause sporadic CHD. PURPOSE: To investigate the association of genetic variations of NKX2-5 with sporadic CHD in Chinese Bai people.
methodsThe whole 2 coding exons and flanking intron sequences of NKX2-5 gene were screened using DNA sequencing in 70 Chinese Bai patients with sporadic CHD and 136 healthy controls.
resultsA novel heterozygous DNA sequence variant (DSV), 1433A>G, was identified in one tetralogy of Fallot (TOF) patient and one persistent left superior vena cava (PLSVC) patient, but none in controls. The frequency of single nucleotide polymorphism (SNP) rs2277923 in CHD group was significantly higher than that in control group. The allele and genotype were associated with the occurrence of CHD.
conclusionThe novel DSV (1433A>G) may be relevant with TOF and PLSVC, and the SNP rs2277923 of NKX2-5 gene contributes to the risk of sporadic CHD in Chinese Bai people.
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Identifiers
26823822PMC4713608W2420047487What OpenQuestion holds
Registered trials
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