scholarly journals Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study

2019 ◽  
Vol 26 (21) ◽  
pp. 21983-21992 ◽  
Author(s):  
Wenke Yang ◽  
Kang Yi ◽  
Hongmiao Yu ◽  
Yunhan Ding ◽  
Dehong Li ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
In Silico ◽  
Chinese Population ◽  
Congenital Heart ◽  
Disease Susceptibility ◽  
Case Control ◽  
In Silico Study ◽  
Different Altitudes

scholarly journals In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease

2021 ◽  
Author(s):  
Shiva Abbasi ◽  
Neda Mohsen-Pour ◽  
Niloofar Naderi ◽  
Shahin Rahimi ◽  
Majid Maleki ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
In Silico ◽  
Structure Prediction ◽  
Congenital Heart ◽  
In Silico Analysis ◽  
Different Types ◽  
Frequent Variant ◽  
High Level ◽  
Silico Analysis

Introduction: Congenital heart disease (CHD) is the most common congenital abnormality and the main cause of infant mortality worldwide. Some of the mutations that occur in the GATA4 gene region may result in different types of CHD. Here, we report our in silico analysis of gene variants to determine the effects of the GATA4 gene on the development of CHD. Methods: Online 1000 Genomes Project, ExAC, gnomAD, GO-ESP, TOPMed, Iranome, GME, ClinVar, and HGMD databases were drawn upon to collect information on all the reported GATA4 variations.The functional importance of the genetic variants was assessed by using SIFT, MutationTaster, CADD,PolyPhen-2, PROVEAN, and GERP prediction tools. Thereafter, network analysis of the GATA4protein via STRING, normal/mutant protein structure prediction via HOPE and I-TASSER, and phylogenetic assessment of the GATA4 sequence alignment via ClustalW were performed. Results: The most frequent variant was c.874T>C (45.58%), which was reported in Germany.Ventricular septal defect was the most frequent type of CHD. Out of all the reported variants of GATA4,38 variants were pathogenic. A high level of pathogenicity was shown for p.Gly221Arg (CADD score=31), which was further analyzed. Conclusion: The GATA4 gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening.

scholarly journals Risk Factors Associated with Congenital Heart Disease in Patients Presenting to Aljalila Cardiology Clinic between January 2020- May 2020: A Case Control Study

2021 ◽  
pp. 1-6
Author(s):  
Samah Alasrawi ◽  
◽  
Hessa Almansoori ◽  
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Maternal Smoking ◽  
Congenital Heart ◽  
Case Control Study ◽  
Maternal Diabetes ◽  
Case Control ◽  
Cardiology Clinic ◽  
Control Study

Objective: To investigate the association of maternal diabetes, maternal smoking and syndromes with congenital heart disease (CHD) in patients attending Aljalila cardiology clinic between January 2020 and May of 2020. Methods: A case control study to assess the association of maternal diabetes, maternal smoking and syndromes with CHD. All patients that presented to the clinic between January 2020 and May of 2020 were included. An interviewer administered questionnaire was used to record the presence of maternal diabetes, maternal smoking, and the type of syndrome and type of CHD. Patients with CHD were included in the case group and patients who did not have CHD were in the control group. Age, gender, and nationality were also collected from the hospital records. Fisher exact test and logistic regression was used to analyze the results. Results: A total of 177 cases and 211 controls were recruited. All the risk factors increase the risk of CHD, with maternal diabetes (OR 6.3, 95% CI 2.7-14.6) having the strongest association, then syndromes (OR 5.1, 95% CI 2.3-11.3) and lastly maternal smoking (OR 4.0, 95% CI 1.0-16.3). The most common type of CHD is ventricular septal defect. Conclusion: Maternal diabetes, maternal smoking and syndromes are significant risk factors of CHD in children visiting Aljalila cardiology clinic. Action needs to be taken in order to decrease these risk factors and so, decrease the incidence of CHD in the future. Clearly, more research is needed in order to identify other risk factors for patients in the United Arab Emirates (UAE)

Association of MTHFD Gene Polymorphisms and Maternal Smoking With Risk of Congenital Heart Disease: A Hospital-Based Case-Control Study

2021 ◽  
Author(s):  
Xinli Song ◽  
Qiongxuan Li ◽  
Jingyi Diao ◽  
Jinqi Li ◽  
Yihuan Li ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Maternal Smoking ◽  
Congenital Heart ◽  
Case Control Study ◽  
Interaction Effects ◽  
Case Control ◽  
Tobacco Exposure ◽  
Maternal Tobacco Exposure ◽  
Control Study

Abstract Background: MTHFD may affect the embryonic development by elevated homocysteine levels, DNA synthesis and DNA methylation, but limited number of genetic variants of MTHFD was focused on the association with congenital heart disease (CHD). This study examined the role of MTHFD and maternal smoking in CHD risk, and investigated their interaction effects in Chinese populations. Methods: A case-control study of 464 mothers of CHD infants and 504 mothers of health controls was performed. The exposures of interest were maternal tobacco exposure, single nucleotide polymorphisms (SNPs) of maternal MTHFD gene. The logistic regression model was used for accessing the strength of association.Results: Mothers exposed to secondhand smoke during three months before pregnancy (adjusted odds ratio [aOR] = 1.56; 95% confidence interval [CI]: 1.13-2.15) and in the first trimester of pregnancy (aOR = 2.24; 95%CI: 1.57-3.20) were observed an increased risk of CHD. Our study also found that polymorphisms of maternal MTHFD gene at rs1950902 (AA vs. GG: aOR = 1.73, 95% CI: 1.01-2.97), rs2236222 (GG vs. AA: aOR = 2.38, 95% CI: 1.38-4.12), rs1256142 (GA vs.GG: aOR = 1.57, 95% CI: 1.01-2.45) and rs11849530 (GG vs. AA: aOR = 1.68, 95% CI: 1.02-2.77) were significantly associated with higher risk of CHD. Furthermore, we found the different degrees of interaction effects between polymorphisms of the MTHFD gene including rs1950902, rs2236222, rs1256142, rs11849530 and rs2236225, and maternal tobacco exposure.Conclusions: Maternal polymorphisms of MTHFD gene at rs1950902, rs2236222, rs1256142 and rs11849530, maternal tobacco exposure and their interactions are significantly increased the risk of CHD in offspring. However, more studies in different ethnic populations with a larger sample and prospective designs are required to confirm our findings.Trial registration: Registration number: ChiCTR1800016635; http://www.chictr.org.cn/edit.aspx?pid=28300&htm=4

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes

2019 ◽  
Vol 29 (4) ◽  
pp. 475-480
Author(s):  
Dilek Dilli ◽  
Vehbi Doğan ◽  
Banu M. Özyurt ◽  
Abdullah Özyurt ◽  
Nilay Hakan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulse Oximetry ◽  
Congenital Heart ◽  
Screening Program ◽  
Critical Congenital Heart Disease ◽  
Multi Centre Study ◽  
Geographical Regions ◽  
The Mean ◽  
Different Altitudes

AbstractBackground:To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program.Methods:It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value <0.7 was accepted to be significant.Results:In 4888 newborns, the mean screening time was 31.5 ± 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 ± 1.8%, PI 2.8 ± 2.0, versus saturation 97.7 ± 1.8%, PI 2.3±1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 ± 6.3) and foot saturations (92.1 ± 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively.Conclusion:This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country.

scholarly journals Connection of GLI1 variants to congenital heart disease susceptibility

Medicine ◽  
2020 ◽  
Vol 99 (27) ◽  
pp. e19868
Author(s):  
Weiwei Guan ◽  
Jun Zhang ◽  
Jie Chen
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Disease Susceptibility
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