scholarly journals Maternal Folic Acid Intake and Methylation Status of Genes Associated with Ventricular Septal Defects in Children: Case–Control Study

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 2071
Author(s):  
Sandra M. González-Peña ◽  
Geovana Calvo-Anguiano ◽  
Laura E. Martínez-de-Villarreal ◽  
Patricia R. Ancer-Rodríguez ◽  
José J. Lugo-Trampe ◽  
...  

Background: DNA methylation is the best epigenetic mechanism for explaining the interactions between nutrients and genes involved in intrauterine growth and development programming. A possible contributor of methylation abnormalities to congenital heart disease is the folate methylation regulatory pathway; however, the mechanisms and methylation patterns of VSD-associated genes are not fully understood. Objective: To determine if maternal dietary intake of folic acid (FA) is related to the methylation status (MS) of VSD-associated genes (AXIN1, MTHFR, TBX1, and TBX20). Methods: Prospective case–control study; 48 mothers and their children were evaluated. The mothers’ dietary variables were collected through a food frequency questionnaire focusing on FA and the consumption of supplements with FA. The MS of promoters of genes was determined in the children. Results: The intake of FA supplements was significantly higher in the control mothers. In terms of maternal folic acid consumption, significant differences were found in the first trimester of pregnancy. Significant differences were observed in the MS of MTHFR and AXIN1 genes in VSD and control children. A correlation between maternal FA supplementation and MS of AXIN1 and TBX20 genes was found in control and VSD children, respectively. Conclusions: A lower MS of AXIN1 genes and a higher MS of TBX20 genes is associated with FA maternal supplementation.

2021 ◽  
Author(s):  
Xiaolei Wang ◽  
Jin Huang ◽  
Sisi Long ◽  
Huijun Lin ◽  
Na Zhang ◽  
...  

Abstract Introduction: Genome-wide DNA methylation profiling has been used to identify CpG sites relevant to gestational diabetes mellitus (GDM). However, these sites have not been verified in larger samples. Here, our aim was to evaluate the changes in target CpG sites in the peripheral blood of pregnant women with GDM in their first trimester. Research Design and Methods: This nested case-control study examined a large cohort of women with GDM in early pregnancy (10–15 weeks; n = 80). Target CpG sites were extracted from related published literature and bioinformatics analysis. The DNA methylation levels at 337 CpG sites located in 27 target genes were determined using MethylTarget™ sequencing. The best cut-off levels for methylation of CpG sites were determined using the generated ROC curve. The independent effect of CpG site methylation status on GDM was analyzed using conditional logistic regression. Results Methylation levels at 6 CpG sites were significantly higher in the GDM group than in controls, whereas those at 7 CpG sites were significantly lower (P < 0.05). The area under the ROC curve at each methylation level of the significant CpG sites ranged between 0.593 and 0.650 for GDM prediction. After adjusting for possible confounders, the hypermethylation status of candidate sites cg68167324 (OR = 3.168, 1.038–9.666) and cg24837915 (OR = 5.232, 1.659–16.506) was identified as more strongly associated with GDM; conversely, the hypermethylation of sites cg157130156 (OR = 0.361, 0.135–0.966) and cg89438648 (OR = 0.206, 0.065–0.655) might indicate lower risk of GDM. Conclusions The methylation status of target CpG sites in the peripheral blood of pregnant women during the first trimester is associated with GDM pathogenesis, and has potential as a predictor of GDM.


Author(s):  
Yanji Qu ◽  
Shao Lin ◽  
Jian Zhuang ◽  
Michael S. Bloom ◽  
Maggie Smith ◽  
...  

Background Maternal folic acid supplementation (FAS) reduces the risk of neural tube defects in offspring. However, its effect on congenital heart disease (CHDs), especially on the severe ones remains uncertain. This study aimed to assess the individual and joint effect of first‐trimester maternal FAS and multivitamin use on CHDs in offspring. Methods and Results This is a case‐control study including 8379 confirmed CHD cases and 6918 controls from 40 healthcare centers of 21 cities in Guangdong Province, China. Adjusted odds ratios (aORs) of FAS and multivitamin use between CHD cases (overall and specific CHD phenotypes) and controls were calculated by controlling for parental confounders. The multiplicative interaction effect of FAS and multivitamin use on CHDs was estimated. A significantly protective association was detected between first‐trimester maternal FAS and CHDs among offspring (aOR, 0.69; 95% CI, 0.62–0.76), but not for multivitamin use alone (aOR, 1.42; 95% CI, 0.73–2.78). There was no interaction between FAS and multivitamin use on CHDs ( P =0.292). Most CHD phenotypes benefited from FAS (aORs ranged from 0.03–0.85), especially the most severe categories (ie, multiple critical CHDs [aOR, 0.16; 95% CI, 0.12–0.22]) and phenotypes (ie, single ventricle [aOR, 0.03; 95% CI, 0.004–0.21]). Conclusions First‐trimester maternal FAS, but not multivitamin use, was substantially associated with lower risk of CHDs, and the association was strongest for the most severe CHD phenotypes. We recommend that women of childbearing age should supplement with folic acid as early as possible, ensuring coverage of the critical window for fetal heart development to prevent CHDs.


Author(s):  
Hamdy N. El-Tallawy ◽  
Tahia H. Saleem ◽  
Wafaa M. Farghaly ◽  
Heba Mohamed Saad Eldien ◽  
Ashraf Khodaery ◽  
...  

Abstract Background Parkinson’s disease is one of the neurodegenerative disorders that is caused by genetic and environmental factors or interaction between them. Solute carrier family 41 member 1 within the PARK16 locus has been reported to be associated with Parkinson’s disease. Cognitive impairment is one of the non-motor symptoms that is considered a challenge in Parkinson’s disease patients. This study aimed to investigate the association of rs11240569 polymorphism; a synonymous coding variant in SLC41A1 in Parkinson’s disease patients in addition to the assessment of cognitive impairment in those patients. Results In a case -control study, rs11240569 single nucleotide polymorphisms in SLC41A1, genes were genotyped in 48 Parkinson’s disease patients and 48 controls. Motor and non-motor performance in Parkinson's disease patients were assessed by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The genotype and allele frequencies were compared between the two groups and revealed no significant differences between case and control groups for rs11240569 in SLC41A1 gene with P value .523 and .54, respectively. Cognition was evaluated and showed the mean ± standard deviation (SD) of WAIS score of PD patients 80.4 ± 9.13 and the range was from 61 to 105, in addition to MMSE that showed mean ± SD 21.96 ± 3.8. Conclusion Genetic testing of the present study showed that rs11240569 polymorphism of SLC41A1 gene has no significant differences in distributions of alleles and genotypes between cases and control group, in addition to cognitive impairment that is present in a large proportion of PD patients and in addition to the strong correlation between cognitive impairment and motor and non-motor symptoms progression.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Thang Nguyen-Tien ◽  
Duy Cuong Do ◽  
Xuan Luat Le ◽  
Thi Hai Dinh ◽  
Mats Lindeborg ◽  
...  

Abstract Background Dengue is a mosquito-borne flavivirus present in many metropolitan cities of tropical countries. Methods During and after the dengue season (September 2018 to January 2019), we conducted a case-control study in order to determine the risk factors for dengue fever in Hanoi city, Vietnam. 98 dengue patients and 99 patients with other acute infections, such as Hepatitis B virus infection, were recruited at Department of Infectious Disease of Bach Mai national hospital in Hanoi. Patients were interviewed using a structured questionnaire covering demographic, housing, environmental factors and knowledge, attitude, and practice on dengue prevention and control. Univariate analysis and multivariable logistic regression were used to determine the risk factors of dengue status. Results The mean score of knowledge items and practice items was only 7.9 out of total 19 points and 3.9 out of total 17 points, respectively. While the mean score of attitude items was 4.8 out of total 6 points. Multivariable logistic regression indicated that older patients had lesser risk of getting dengue infection as compared to younger adults aged 16–30, and patients living in peri-urban districts were less likely to suffer of dengue fever than patients living in central urban districts (OR = 0.31; 95% CI 0.13–0.75). This study could not find any association with occupation, water storage habit, knowledge, attitude, or practice on dengue prevention. Conclusions All patients had a relatively low level of knowledge and practice on dengue prevention and control. However, the attitude of the participants was good. We found that age group and living district were the risk factors correlated with the dengue status. Communication programs on raising dengue awareness should be repeated all year round and target particular groups of adolescents, younger adults, landlords and migrants from other provinces to improve their knowledge and encourage them to implement preventive measures against dengue fever.


2015 ◽  
Vol 43 (6) ◽  
Author(s):  
Tanya Maric ◽  
Natasha Singh ◽  
Keith Duncan ◽  
Guy J. Thorpe-Beeston ◽  
Makrina D. Savvidou

AbstractTo investigate the relation between first-trimester fetal growth discrepancy, as assessed by crown-rump length (CRL) at 11+0 to 13+6 weeks of gestation, and subsequent development of preeclampsia (PE) in dichorionic diamniotic (DCDA) twin pregnancies. The association between inter-twin CRL and birth weight (BW) discrepancy was also investigated.This was a retrospective, case-control study of DCDA twin pregnancies. Inter-twin CRL discrepancy was calculated as 100×(larger CRL–smaller CRL)/larger CRL. BW discordance was calculated as 100×(larger BW–smaller BW)/larger BW.The study included 299 DCDA pregnancies that remained normotensive and 35 that subsequently developed PE. There was no significant difference in the inter-twin CRL discrepancy between pregnancies complicated by PE and those that were not [3.2%, interquartile range (IQR): 0.5–4.5% vs. 3.3%, IQR: 1.4–5.5%; P=0.17]. There was a positive correlation between inter-twin CRL and BW discrepancy but only in pregnancies that remained normotensive (P<0.001). In women that subsequently developed PE, there was no association between inter-twin CRL and BW discordance (P=0.54).In unselected DCDA twins, first-trimester CRL discrepancy is not different between pregnancies that subsequently develop PE and those that remain normotensive. Furthermore, in pregnancies that are complicated by PE, the association between inter-twin CRL and BW discrepancy appears to be lost.


Author(s):  
Manushak Avagyan ◽  
Lusine Abrahamyan ◽  
Anahit Demirchyan

Background: Childhood cancer (CC) is a leading cause of death among children aged 0-19 years worldwide. Each year, 400,000 new cases of CC are diagnosed globally. Given the between-country differences in CC incidence rates, types and trends, this study aimed to identify possible risk factors for CC in Armenia. Methods: We used a case-control study design by enrolling participants from the only specialized pediatric hematology and oncology center in Armenia. Cases included patients ≤14 years old diagnosed and treated with a malignant disease between 2017-2020 in the centre. Controls included patients diagnosed and treated in the center during the same period for a non-malignant disease. We conducted telephone interviews with mothers of cases and controls. Independent risk factors of cancer were identified using multivariable logistic regression analysis. Results: Overall, 234 participants (117 cases, 117 controls) were included in the study. Based on the fitted model, maternal usage of folic acid during pregnancy was protective against CC, almost twice decreasing its odds (OR=0.54; 95% CI: 0.31-0.94). On the contrary, experiencing horrifying/terrifying event(s) during pregnancy (OR=2.19; 95% CI: 1.18-4.07) and having induced abortions before getting pregnant with the given child (OR=2.94; 95% CI: 1.45-5.96) were associated with higher odds for a child to develop cancer. Conclusion: This study identified three important modifiable risk factors for CC in Armenia, all related to the period of pregnancy. The findings indicate the importance of education on stress reduction during pregnancy, the use of folic acid prior to and during pregnancy, and avoidance of induced abortions.


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