Relationship between TBX20 gene polymorphism and congenital heart disease

Yang, Xiaoyan; Yf, Zhang; Cf, Zhao; Liu, Miaomiao; Jp, Si; Yf, Fang; Ww, Xing; Fl, Wang

doi:10.4238/gmr.15027374

Cited by 6 publications

(6 citation statements)

References 20 publications

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“…Figure 1 shows the process of study selection and exclusion, with specification of reasons. Finally, 35 studies that met the inclusion criteria, corresponding to 9,329 CHD children and 15,076 normal controls, 3,232 mothers with CHD offspring and 27,174 normal controls for the C677T polymorphism and 1,761 CHD children and 1,868 normal controls/705 mothers with CHD offspring and 15,458 controls for the A1298C polymorphism, were considered in the meta-analysis 15 17 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 . The main characteristics of the included studies are listed in Table 1 – 2 .…”

Section: Resultsmentioning

confidence: 99%

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Xuan

Zhao

et al. 2014

Sci Rep

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The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD). Electronic literature databases were searched to identify eligible studies published before Jun, 2014. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI). The publication bias was explored using Begg's test. Sensitivity analysis was performed to evaluate the stability of the crude results. A total of 35 studies were included in this meta-analysis. For the MTHFR C677T polymorphism, we detected significant association in all genetic models for Asian children and the maternal population. Significant association was also detected in T vs. C for a Caucasian paediatric population (OR = 1.163, 95% CI: 1.008–1.342) and in both T vs. C (OR = 1.125, 95% CI: 1.043–1.214) and the dominant model (OR = 1.216, 95% CI:b1.096–1.348) for a Caucasian maternal population. For the MTHFR A1298C polymorphism, the association was detected in CC vs. AC for the Caucasian paediatric population (OR = 1.484, 95% CI: 1.035–2.128). Our results support the MTHFR -677T allele as a susceptibility factor for CHD in the Asian maternal population and the -1298C allele as a risk factor in the Caucasian paediatric population.

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Section: Resultsmentioning

confidence: 99%

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Xuan

Zhao

et al. 2014

Sci Rep

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“…Furthermore, the GATA4 gene expression has a direct impact on the embryonic and postnatal development of heart and acts synergistically with other transcription factors, such as NKX2-5 during cardiogenesis [ 8 , 19 ]. Cardiac transcription factor NKX2-5 acts in combination with GATA4 in genetic, transcriptional and biochemical processes during formation of the heart [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

Aidinidou

Chatzikyriakidou

Giannopoulos

et al. 2021

Balkan Journal of Medical Genetics

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Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.

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“…Though we stopped further investigation due to the unwillingness of the family to further participate in the study, this chromosomal abnormality should be noted in genetic counseling as individuals with balanced chromosomal translocations might have fertility difficulties such as infertility or giving birth to babies with congenital anomalies, despite normal phenotypes. 31 To the best of our knowledge, 16,32,33 the GATA4 gene can be considered as one of common genes involved in CHD etiology. We screened the entire coding sequence regions of the GATA4 gene among sixty-six CHD patients.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, the GATA4 gene can be considered as one of common genes involved in CHD etiology. We screened the entire coding sequence regions of the GATA4 gene among sixty‐six CHD patients.…”

Section: Discussionmentioning

confidence: 99%

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease

Kalayinia

Maleki

Rokni‐Zadeh

et al. 2019

Clinical Laboratory Analysis

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BackgroundCongenital heart disease (CHD) is the most common birth defect and a major health problem around the world. However, its exact etiology has remained unclear. Among various genetic contributing factors, GATA4 transcription factor plays a significant role in the CHD pathogenesis. In this study, GATA4 coding sequence was screened in Iranian patients of various ethnicities.MethodsSixty six individuals with familial CHD referred to our center were recruited in this study. After receiving written informed consent from each individual or their parents, chromosomal analyses and GATA4 variant screening were performed. Pathogenicity of the suspected variants was evaluated using available online software tools: CADD, Mutation Taster, SIFT, and PolyPhen‐2.ResultsA total of twelve GATA4 variants were detected including five intronic, 2 exonic and 3 polymorphisms as well as 2 missense mutations, the c.1220C>A and c.1309G>A. Unlike the c.1220C>A, the likely pathogenic heterozygous c.1309G>A has not been previously associated with any phenotype. Here, we not only report, for the first time, a c.1309G>A‐related CHD, but also report a novel de novo balanced translocation, 46,XY,t(5;7)(qter13;qter11), in the same patient which may have influenced the disease severity.ConclusionFrom screening GATA4 sequence in 66 Iranian patients of various ethnicities, we conclude that cytogenetic analysis and PCR‐direct sequencing of different candidate genes may not be the best approach for genetic diagnosis in CHD. Applying novel approaches such as next‐generation sequencing (NGS) may provide a better understating of genetic contributing factors in CHD patients for whom conventional methods could not reveal any genetic causative factor.

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Relationship between TBX20 gene polymorphism and congenital heart disease

Cited by 6 publications

References 20 publications

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease

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