Dataset Information

The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.

ABSTRACT:

Background

The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. Although some recent studies have studied the role of polymorphisms in the NKX2-5 gene in congenital heart diseases (CHDs), the results were not consistent and remained uncertain. Therefore, we conduct a review of literature and investigate the association of genetic polymorphisms with CHDs.

Results

We selected seventeen studies regarding the association of NKX2-5 gene rs2277923 polymorphism with CHDs. Overall, in all the tested genetic models, the 63A > G polymorphism was not significantly associated with increased congenital heart defects risk. We used pooled odds ratios (OR) to calculate the association of CHDs with rs2277923 including allelic model: OR 1.00, 95% CI 0.82-1.21; homozygote model: OR 0.95, 95%CI 0.68-1.33, recessive model: OR 0.89 CI 0.70-1.13, heterozygote model: OR: 1.09, 95%CI 0.87-1.37, dominant model: OR 1.08 CI 0.82-1.42 and overdominant model: OR 1.17 CI 1.01-1.35. In addition, our analysis suggests that no publication bias exists in this meta-analysis.

Conclusions

Our findings suggested that 63A > G polymorphism in the NKX2-5 gene was not significantly associated with congenital heart defects. However, in the future, more studies with increased sample size are required that may provide us more definite conclusions.

SUBMITTER: Ashiq S

PROVIDER: S-EPMC8380205 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Publications

The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.

Ashiq Sana S Ashiq Kanwal K Sabar Muhammad Farooq MF

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 20210821 1

<h4>Background</h4>The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. Although some recent studies have studied the role of polymorphisms in the NKX2-5 gene in congenital heart diseases (CHDs), the results were not consistent and remained uncertain. Therefore, we conduct a review of literature and investigate the association of genetic polymorphisms with CHDs.<h4>Results</h4>We selected seventeen studies regarding the association of NKX2-5 g ...[more]

PMID: 34417931

Similar Datasets

Project description: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.

Dataset Information

The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.

Background

Results

Conclusions

Publications

The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.

Similar Datasets

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