scholarly journals Association of Maternal Diabetes Mellitus and Polymorphisms of the NKX2.5 Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Mingyi Zhao ◽  
Jingyi Diao ◽  
Peng Huang ◽  
Jinqi Li ◽  
Yihuan Li ◽  
...  

Background. Congenital heart disease (CHD) is one of the most common birth defects among newborns, accounting for a large proportion of infant mortality worldwide. However, the mechanisms remain largely undefinable. This study aimed to investigate the association of CHD in offspring of mothers with diabetes mellitus (DM) and single nucleotide polymorphisms (SNPs) of NKX2.5. Methods and Results. A case-control study of 620 mothers of CHD patients and 620 mothers of healthy children admitted to Hunan Children’s Hospital from November 2017 to December 2019 was conducted. We collected the mothers’ information by questionnaire and detected children’s NKX2.5 variants with a MassARRAY system. The interaction coefficient (γ) was used to quantify the estimated gene-environment interactions. Univariate and multivariate analyses both showed that the infants had a higher risk of CHD if their mothers had a history of DM, including gestational DM (GDM) during this pregnancy (adjusted odds ratio [aOR=4.98]), GDM in previous pregnancies (aOR=4.30), and pregestational DM (PGDM) in the 3 months before this pregnancy (aOR=6.78). Polymorphisms of the NKX2.5 gene at rs11802669 (C/C vs. T/T: aOR=4.97; C/T vs. T/T: aOR=2.15) and rs2277923 (T/T vs. C/C, aOR=1.74; T/C vs. C/C, aOR=1.61) were significantly associated with the risk of CHD in offspring. In addition, significant interactions between maternal DM and NKX2.5 genetic variants at rs11802669 (aOR=8.12) and rs2277923 (aOR=17.72) affecting the development of CHD were found. Conclusions. These results suggest that maternal DM, NKX2.5 genetic variants, and their interactions are significantly associated with the risk of CHD in offspring.

Author(s):  
Samah Alasrawi ◽  
◽  
Hessa Almansoori ◽  

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)


2021 ◽  
Author(s):  
Xinli Song ◽  
Qiongxuan Li ◽  
Jingyi Diao ◽  
Jinqi Li ◽  
Yihuan Li ◽  
...  

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


PEDIATRICS ◽  
2019 ◽  
Vol 144 (5) ◽  
pp. e20184114 ◽  
Author(s):  
Eric R. Sigmon ◽  
Michael Kelleman ◽  
Apryl Susi ◽  
Cade M. Nylund ◽  
Matthew E. Oster

The Lancet ◽  
2017 ◽  
Vol 390 ◽  
pp. S8 ◽  
Author(s):  
Mahmoud Zaqout ◽  
Emad Aslem ◽  
Mazen Abuqamar ◽  
Osama Abughazza ◽  
Joseph Panzer ◽  
...  

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