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  • 1
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    Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring
    Springer Science and Business Media LLC ; 2021
    In:  BMC Cardiovascular Disorders Vol. 21, No. 1 ( 2021-12)
    Details
    In: BMC Cardiovascular Disorders, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2021-12)
    Abstract: Although many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of CHD and its three subtypes in offspring. Methods A case–control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed. Results Our study showed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly associated with risk of CHD in the homozygote comparisons (TT vs. CC at rs4846052: OR = 7.62 [95%CI 2.95–19.65]; GG vs. TT at rs1801131: OR = 5.18 [95%CI 2.77–9.71] ). And six haplotypes of G–C (involving rs4846048 and rs2274976), A–C (involving rs1801133 and rs4846052), G–T (involving rs1801133 and rs4846052), G–T–G (involving rs2066470, rs3737964 and rs535107), A–C–G (involving rs2066470, rs3737964 and rs535107) and G–C–G (involving rs2066470, rs3737964 and rs535107) were identified to be significantly associated with risk of CHD. Additionally, we observed that a two-locus model involving rs2066470 and rs1801131 as well as a three-locus model involving rs227497, rs1801133 and rs1801131 were significantly associated with risk of CHD in the gene–gene interaction analyses. For three subtypes including atrial septal defect, ventricular septal defect and patent ductus arteriosus, similar results were observed. Conclusions Our study indicated genetic polymorphisms of maternal MTHFR gene were significantly associated with risk of fetal CHD in the Chinese population. Additionally, there were significantly interactions among different SNPs on risk of CHD. However, how these SNPs affect the development of fetal heart remains unknown, and more studies in different ethnic populations and with a larger sample are required to confirm these findings.
    Type of Medium: Online Resource
    ISSN: 1471-2261
    URL: Article
    DOI: 10.1186/s12872-021-02117-z
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2059859-2
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  • 2
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    Effect of Maternal Antidepressant Use During the Pre-pregnancy/Early Pregnancy Period on Congenital Heart Disease: A Prospective Cohort Study in Central China
    Frontiers Media SA ; 2022
    In:  Frontiers in Cardiovascular Medicine Vol. 9 ( 2022-7-5)
    Details
    In: Frontiers in Cardiovascular Medicine, Frontiers Media SA, Vol. 9 ( 2022-7-5)
    Abstract: With the increase in maternal antidepressant prescribing before/during pregnancy, concerns about the safety of antidepressants have come into focus. The purpose of this study was to explore the association between maternal antidepressant use before pregnancy/in early pregnancy and the risk of congenital heart disease (CHD) in children, and to provide a scientific basis for clinical safety of antidepressant use. Methods The prospective cohort study ultimately included 34,104 singleton pregnancies. Modified Poisson regression model with robust error variances was used to evaluate RRs and 95% confidence intervals (CIs) for the risk of CHD in offspring exposed to maternal antidepressant in the 3 months before pregnancy and early pregnancy. In addition, sensitivity analysis was further performed to explore the robustness of the results. Results In this study, the maternal antidepressant exposure rate was 2.83% in the 3 months before pregnancy, 2.42% in early pregnancy, and the incidence of CHD was 8.973 per 1,000 live births. We found that maternal antidepressant use in the 3 months before pregnancy and early pregnancy were all associated with an increased risk of CHD, ~2.54 times and 2.87 times, respectively, of non-use of antidepressants after adjusting for potential confounders. This association was also found in CHD specific phenotypic analysis. Of these, offspring whose mothers were exposed to antidepressants in the 3 months before pregnancy had the highest risk of transposition of the great arteries (aOR = 5.50, 95% CI: 1.91–15.88). The offspring of mothers exposed to antidepressants in early pregnancy had the highest risk of developing ventricular septal defect (aOR = 4.80, 95% CI: 2.50–9.24). Sensitivity analysis verified the stability of the results. Conclusions Maternal antidepressant use in the 3 months before pregnancy and early pregnancy were all associated with an increased risk of CHD in their offspring. In order to reduce the risk of teratogenesis, we recommend that pregnant women prepare for pregnancy after their condition improves or receive the minimum effective dose of medication.
    Type of Medium: Online Resource
    ISSN: 2297-055X
    URL: Article
    DOI: 10.3389/fcvm.2022.916882
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2781496-8
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  • 3
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    Association of paternal smoking with the risk of neural tube defects in offspring: A systematic review and meta‐analysis of observational studies
    Wiley ; 2021
    In:  Birth Defects Research Vol. 113, No. 12 ( 2021-07-15), p. 883-893
    Details
    In: Birth Defects Research, Wiley, Vol. 113, No. 12 ( 2021-07-15), p. 883-893
    Abstract: The present study aimed at providing some epidemiological evidences to assess the association of paternal smoking with the risk of neural tube defects (NTDs) and its specific subtypes in offspring, and explore the possible dose–response relationship between paternal smoking and risk of NTDs. Methods English and Chinese databases were systematically searched from 1984 to May 2020. Either a fixed‐ or a random‐effects model was used to calculate the overall combined risk estimates. We also examined the dose–response relationship between parental smoking and risk of NTDs in offspring. Subgroup analyses and sensitivity analyses were conducted to explore possible sources of heterogeneity. Results A total of 10 case–control studies involving 2,593 cases of NTDs and 45,100 controls were included for analysis. Findings from our study showed that paternal smoking was significantly associated with risk of total NTDs (odds ratio [OR] = 1.68; 95% confidence interval (CI): 1.48–1.92) and two subtypes including anencephaly (OR = 1.41; 95% CI: 1.06–1.86) and encephaloceles (OR = 2.90; 95% CI: 1.00–8.41). Additionally, a linear dose–response relationship between paternal smoking and risk of NTDs was observed, which indicated that the risk of NTDs in offspring was significantly increased by 45% (OR = 1.45, 95% CI: 1.14–1.84) for each increment of half a pack of cigarettes per day. Sensitivity analyses yielded consistent results. No evidence of publication bias was found. Conclusions Paternal smoking is significantly associated with the risk of NTDs in offspring. Therefore, it should be recommended that fathers quit smoking before pregnancy to prevent NTDs in offspring.
    Type of Medium: Online Resource
    ISSN: 2472-1727 , 2472-1727
    URL: Issue
    URL: Article
    DOI: 10.1002/bdr2.v113.12
    DOI: 10.1002/bdr2.1823
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2884154-2
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  • 4
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    Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring
    Elsevier BV ; 2021
    In:  International Journal of Cardiology Vol. 322 ( 2021-01), p. 121-128
    Details
    In: International Journal of Cardiology, Elsevier BV, Vol. 322 ( 2021-01), p. 121-128
    Type of Medium: Online Resource
    ISSN: 0167-5273
    URL: Article
    DOI: 10.1016/j.ijcard.2020.08.018
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 1500478-8
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  • 5
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    Data_Sheet_1.PDF
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 10 ( 2022-3-17)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-3-17)
    Abstract: Given that the time lag between cytomegalovirus (CMV) screening and diagnosed testing, a better knowledge of the association between pregnant women with CMV screening test positive and stillbirth in an epidemiological perspective was required to assist people being counseled reframe their pregnancy and birth plans based on the magnitude of the risk. Methods This study recruited 44048 eligible pregnant women from March 13, 2013 to December 31, 2019. Serological tests including CMV-specific IgM and IgG, and IgG avidity index were used to screen for maternal CMV infection and were measured by automated chemiluminescence immunoassay. The association was assessed using the inverse probability of group-weighted multivariate-adjusted log-binomial models. Results A total of 540 infants ended with a stillbirth (12.3 per 1000 pregnancies), and 2472 pregnancies with maternal CMV infection were screened out (56.1 per 1000 pregnancies) among all eligible pregnancies. In the comparison analysis, 326 infants ended with a stillbirth (86.6 per 1000 pregnancies) in the maternal CMV infection group compared with 214 infants (7.8 per 1000 pregnancies) in the group where mothers were not infected with CMV (RR 12.17; 95% CI 9.43–15.71). After excluding the pregnancies of stillbirth with birth defects, a strong association between the two groups was still observed (RR 9.38; 95% CI 6.92–12.70). Conclusion Our findings quantified the risk of a woman having a baby with stillbirth if she had a positive serologic CMV screening test in her first trimester, and supported the value of using CMV serologic tests as part of regular testing in pregnant women. Trial registration Registered in Chinese Clinical Trial Registry Center; registration number, ChiCTR1800016635; registration date, 06/14/2018 (Retrospectively registered); URL of trial registry record, https://www.chictr.org.cn/showproj.aspx?proj=28300 .
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    URL: Article
    DOI: 10.3389/fped.2022.803568
    DOI: 10.3389/fped.2022.803568.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 6
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    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
    Hindawi Limited ; 2020
    In:  Journal of Diabetes Research Vol. 2020 ( 2020-09-26), p. 1-12
    Details
    In: Journal of Diabetes Research, Hindawi Limited, Vol. 2020 ( 2020-09-26), p. 1-12
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 2314-6745 , 2314-6753
    URL: Article
    DOI: 10.1155/2020/3854630
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2020
    detail.hit.zdb_id: 2711897-6
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  • 7
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    Table_3.DOCX
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 10 ( 2022-9-8)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-9-8)
    Abstract: To systematically evaluate the association of MTHFR genetic polymorphisms, maternal folic acid intake, and the time when folic acid intake was started with the risk of congenital heart disease (CHD) and investigated the role of their interaction on infant CHD risk in Chinese populations. Methods A case–control study involving 592 CHD cases, 617 health controls, and their mothers was performed. The exposures of interest were single nucleotide polymorphisms (SNPs) of the MTHFR gene, maternal folic acid use, and the time when folic acid use was started. We applied the logistic regression model to explore the strength of association. Results Our findings showed that mothers lacking folic acid intake had a significantly higher risk of CHD in offspring (aOR = 2.00; 95%CI: 1.34–2.98). Mothers who started to use folic acid from the first trimester of the fetation (aOR = 1.65; 95% CI: 1.22–2.23) or from the second trimester of the fetation (aOR = 7.77; 95% CI: 2.52–23.96), compared with those starting to use folic acid from 3 months previous to the conception, were at a significantly higher risk of CHD in offspring. Genetic variants at rs2066470 (AA vs. GG: aOR = 5.09, 95%CI: 1.99–13.03), rs1801133 (AA vs. GG: aOR = 2.49, 95%CI: 1.58–3.93), and rs1801131 (TG vs. TT: aOR = 1.84, 95%CI: 1.36–2.50; GG vs. TT: aOR = 3.58, 95%CI: 1.68–7.63) were significantly associated with the risk of CHD based on the multivariate analysis. Additionally, statistically significant interactions between maternal folic acid intake and genetic variants of the MTHFR gene at rs1801133 and rs1801131 were observed. Conclusion An association of maternal folic acid intake and the time when intake was started with the risk of CHD in offspring was found. What's more, maternal folic acid fortification may help counteract partial of the risks of CHD in offspring attributable to MTHFR genetic mutations. Registration number http://www.chictr.org.cn/edit.aspx?pid=28300 & amp;htm=4 , identifier: ChiCTR1800016635.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fped.2022.939119
    DOI: 10.3389/fped.2022.939119.s001
    DOI: 10.3389/fped.2022.939119.s002
    DOI: 10.3389/fped.2022.939119.s003
    DOI: 10.3389/fped.2022.939119.s004
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 8
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    Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study
    Springer Science and Business Media LLC ; 2022
    In:  BMC Pregnancy and Childbirth Vol. 22, No. 1 ( 2022-01-31)
    Details
    In: BMC Pregnancy and Childbirth, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2022-01-31)
    Abstract: MTHFD1 gene may affect the embryonic development by elevated homocysteine levels, DNA synthesis and DNA methylation, but limited number of genetic variants of MTHFD1 gene was focused on the association with congenital heart disease (CHD). This study examined the role of MTHFD1 gene and maternal smoking on infant 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 MTHFD1 gene. The logistic regression model was used for accessing the strength of association. Results Mothers exposed to secondhand smoke during 3 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 MTHFD1 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. However, we did not observe a significant association between maternal MTHFD1 rs2236225 and offspring CHD risk. Furthermore, we found the different degrees of interaction effects between polymorphisms of the MTHFD1 gene including rs1950902, rs2236222, rs1256142, rs11849530 and rs2236225, and maternal tobacco exposure. Conclusions Maternal polymorphisms of MTHFD1 gene, maternal tobacco exposure and their interactions are significantly associated with the risk of CHD in offspring in Han Chinese populations. 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 .
    Type of Medium: Online Resource
    ISSN: 1471-2393
    URL: Article
    DOI: 10.1186/s12884-022-04419-2
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2059869-5
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  • 9
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    Association of Maternal Dietary Habits and MTHFD1 Gene Polymorphisms With Ventricular Septal Defects in Offspring: A Case-Control Study
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 9 ( 2022-2-2)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 9 ( 2022-2-2)
    Abstract: This study aimed at assessing the association between maternal methylenetetrahydrofolate dehydrogenase 1 ( MTHFD1 ) gene polymorphisms, maternal dietary habits, and their interactions with the risk of ventricular septal defects (VSD) in offspring. Methods From November 2017 to March 2019, a case-control study comprising 360 mothers of VSD cases and 504 mothers of healthy infants was conducted in Han Chinese populations. The main exposures of interest were maternal dietary habits in early pregnancy and MTHFD1 gene polymorphisms. Logistic regression models were used to estimate the main effects and interaction effects. Results It was observed that maternal excessive intake of pickled vegetables (aOR = 1.85, 95%CI: 1.45–2.37), smoked foods (aOR = 1.93, 95%CI: 1.48–2.51), barbecued foods (aOR = 1.74, 95%CI: 1.28–2.36), and fried foods (aOR = 1.68, 95%CI: 1.30–2.17) were associated with a higher risk of VSD in offspring, whereas maternal excessive intake of fresh meat (aOR = 0.61, 95%CI: 0.47–0.79), fish and shrimp (aOR = 0.29, 95%CI: 0.23–0.38), fresh eggs (aOR = 0.54, 95%CI: 0.42–0.70), fresh fruits or vegetables (aOR = 0.44, 95%CI: 0.33–0.60), soy foods (aOR = 0.65, 95%CI: 0.53–0.80), and milk products (aOR = 0.49, 95%CI: 0.40–0.59) could contribute significantly to a lower risk of VSD in offspring. Furthermore, the genetic polymorphisms of maternal MTHFD1 gene at rs1950902 (GA vs. GG: aOR = 0.67, 95%CI: 0.50–0.90) and rs2236222 (GG vs. AA: aOR = 2.75, 95%CI: 1.57–4.83) were significantly associated with the risk of VSD in offspring. In addition, there was a significant interaction effect between maternal dietary habits and MTHFD1 gene polymorphisms on the risk of VSD. Conclusions Maternal dietary factors, MTHFD1 genetic polymorphisms, and their interactions were all associated with the risk of VSD in offspring. However, further research in diverse ethnic populations and with a larger sample size is warranted to corroborate our findings. Trial Registration Registered in Chinese Clinical Trial Registry Center; registration number, ChiCTR1800016635; registration date, 06/14/2018 (Retrospectively registered); URL of trial registry record, https://www.chictr.org.cn/showproj.aspx?proj=28300 .
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2021.785440
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 10
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    Associations of maternal diabetes mellitus and adiponectin gene polymorphisms with congenital heart disease in offspring : A case-control study
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Medicine Vol. 100, No. 9 ( 2021-03-05), p. e24672-
    Details
    In: Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 9 ( 2021-03-05), p. e24672-
    Abstract: This study aimed at assessing the association of maternal diabetes mellitus (DM), the adiponectin gene ( APM1 ) gene polymorphisms, and their interactions with risk of congenital heart disease (CHD) in offspring. A case-control study of 464 mothers of CHD patients and 504 mothers of healthy children was conducted. After adjusting for potential confounding factors, our study suggested that mothers with gestational DM (GDM) during this pregnancy (adjusted odds ratio [aOR = 2.96]), GDM in previous pregnancy experiences (aOR = 3.16), and pregestational DM in the 3 months before this pregnancy (aOR = 4.52) were at a significantly higher risk of CHD in offspring, when compared with those without any diabetes. The polymorphisms of maternal APM1 gene at rs1501299 (T/T vs G/G: aOR = 3.45; T/G vs G/G: aOR = 1.73) and rs2241766 (G/G vs T/T, aOR = 3.36; G/T vs T/T, aOR = 1.93) were significantly associated with risk of CHD in offspring. In addition, significant interactions between maternal DM and the APM1 genetic variants on the development of CHD were found. Our findings indicate that maternal DM, APM1 gene genetic variants, and their interactions are significantly associated with risk of CHD in offspring. However, more studies in different ethnic populations and with a larger sample and prospective design are required to confirm our findings.
    Type of Medium: Online Resource
    ISSN: 0025-7974 , 1536-5964
    URL: Article
    DOI: 10.1097/MD.0000000000024672
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
    detail.hit.zdb_id: 2049818-4
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