DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status

Barišić, Anita; Kolak, Maja; Peterlin, Ana; Tul, Nataša; Krpina, Milena Gašparović; Ostojić, Saša; Peterlin, Borut; Pereza, Nina

doi:10.3325/cmj.2020.61.8

Cited by 9 publications

(14 citation statements)

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“…Even though none of the analyzed genotypes of DNMT gene exhibited statistically significant difference in LINE-1 DNAm between patients and controls, we additionally analyzed the DNMT3B rs1569686 and rs2424913 in women with familial PTB and women with PTB who smoked before pregnancy because our previous study (Barišic ´et al, 2020) reported minor alleles of these SNPs as the risk ones in these subgroups. Interestingly, patients with familial PTB and risk T allele (TTþTG genotype) of DNMT3B rs1569686 polymorphism showed significant difference in LINE-1 DNAm compared to the patients with familial PTB and GG genotype.…”

Section: Discussionmentioning

confidence: 99%

“…Percent of LINE-1 DNAm was calculated using the formula for absolute quantification, modified in the way that PMR and PUR values were included with correction related to the DNA input, so that the final formula was as follows: (PMR/(PMRþPUR))�100 (Bozovic et al, 2015;Eads, 2000;Weisenberger et al, 2005). For the evaluation of maternal DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, DNMT3B rs2424913, and DNMT3L rs2070565 SNPs, polymerase chain reaction and restriction fragment length polymorphism methods were employed (Barišic ´et al, 2020).…”

Section: Dna Isolation and Methylation Analysismentioning

confidence: 99%

“…Because their contribution in prediction of preterm birth is still poorly understood, we chose several DNMT SNPs considering their established function in the setting of epigenetic modifications during gametogenesis and pregnancy: DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, DNMT3B rs2424913, and DNMT3L rs2070565. Moreover, our previous study reported the positive association of the DNMT3B rs1569686 and rs2424913 gene polymorphisms in women with positive family history of PTB and smoking status (Barišic ´et al, 2020). Therefore, we performed a case-control study to evaluate maternal LINE-1 DNAm, along with the impact of genetic factors on DNAm (DNMT), and non-genetic factors that potentially influence DNAm (maternal and gestational age at delivery, parity, smoking status, history of previous PTB, familial PTB, new-born sex and birth weight), in peripheral blood of early PTB patients and associated controls.…”

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confidence: 92%

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Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth

Barišić

Stanković

Stojković

et al. 2021

Biological Research For Nursing

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Despite considerable effort aimed at decreasing the incidence of spontaneous preterm birth (SPTB), it remains the leading cause of infant mortality and morbidity. The aim of this study was to evaluate maternal LINE-1 DNA methylation (DNAm), along with DNMT polymorphisms and factors proposed to modulate DNAm, in patients who delivered early preterm. This case-control study included women who delivered spontaneously early preterm (23–336 /7 weeks of gestation), and control women. DNAm was analyzed in peripheral blood lymphocytes by quantification of LINE-1 DNAm using the MethyLight method. There was no significant difference in LINE-1 DNAm between patients with early PTB and controls. Among the investigated predictors, only the history of previous PTB was significantly associated with LINE-1 DNAm in PTB patients (β = −0.407; R2 = 0.131; p = 0.011). The regression analysis showed the effect of DNMT3B rs1569686 TT+TG genotypes on LINE-1 DNAm in patients with familial PTB (β = −0.524; R2 = 0.275; p = 0.037). Our findings suggest novel associations of maternal LINE-1 DNA hypomethylation with DNMT3B rs1569686 T allele. These results also contribute to the understanding of a complex (epi)genetic and environmental relationship underlying the early PTB.

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Section: Discussionmentioning

confidence: 99%

Section: Dna Isolation and Methylation Analysismentioning

confidence: 99%

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confidence: 92%

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Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth

Barišić

Stanković

Stojković

et al. 2021

Biological Research For Nursing

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“…Correlations with polymorphisms of epigenetic effector genes may provide corroborating, but still associative, evidence for epigenetic involvement in fetal membrane regulation. Polymorphisms of the DNMT3B and DNMT3L genes were found to associate with familial preterm birth and birth weight, respectively, but fetal membrane involvement (e.g., associations with pPROM) was not reported (Haggarty et al, 2013;Barisic et al, 2020). • Fetal membrane tissues in vivo are subject to environmental exposures and lifestyle conditions such as smoking, diet, toxic substances and effects of social stress.…”

Section: Discussionmentioning

confidence: 99%

Fetal Membrane Epigenetics

Zakár

Paul

2020

Front. Physiol.

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The characteristics of fetal membrane cells and their phenotypic adaptations to support pregnancy or promote parturition are defined by global patterns of gene expression controlled by chromatin structure. Heritable epigenetic chromatin modifications that include DNA methylation and covalent histone modifications establish chromatin regions permissive or exclusive of regulatory interactions defining the cell-specific scope and potential of gene activity. Non-coding RNAs acting at the transcriptional and post-transcriptional levels complement the system by robustly stabilizing gene expression patterns and contributing to ordered phenotype transitions. Here we review currently available information about epigenetic gene regulation in the amnion and the chorion laeve. In addition, we provide an overview of epigenetic phenomena in the decidua, which is the maternal tissue fused to the chorion membrane forming the anatomical and functional unit called choriodecidua. The relationship of gene expression with DNA (CpG) methylation, histone acetylation and methylation, micro RNAs, long non-coding RNAs and chromatin accessibility is discussed in the context of normal pregnancy, parturition and pregnancy complications. Data generated using clinical samples and cell culture models strongly suggests that epigenetic events are associated with the phenotypic transitions of fetal membrane cells during the establishment, maintenance and termination of pregnancy potentially driving and consolidating the changes as pregnancy progresses. Disease conditions and environmental factors may produce epigenetic footprints that indicate exposures and mediate adverse pregnancy outcomes. Although knowledge is expanding rapidly, fetal membrane epigenetics is still in an early stage of development necessitating further research to realize its remarkable basic and translational potential.

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“…The types of environmental and lifestyle-related chemicals assessed were diverse. Twenty-seven studies used questionnaires to investigate the type of maternal smoking during pregnancy (also see Tables 1 to 5 ), including maternal active smoking, passive smoking, or secondhand smoking [ 20 , 23 , 25 , 27 , 31 , 34 , 36 , 38 – 40 , 46 , 56 , 60 – 62 , 68 , 70 , 73 , 74 , 79 , 80 , 82 – 87 ]. Three studies examined the biomarker levels related to maternal smoking including cotinine levels [ 47 , 49 , 51 ].…”

Section: Gene-environment Interaction Studiesmentioning

confidence: 99%

Gene-environment interactions related to maternal exposure to environmental and lifestyle-related chemicals during pregnancy and the resulting adverse fetal growth: a review

Kobayashi

Sata

Kishi

2022

Environ Health Prev Med

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Background There are only limited numbers of reviews on the association of maternal-child genetic polymorphisms and environmental and lifestyle-related chemical exposure during pregnancy with adverse fetal growth. Thus, this article aims to review: (1) the effect of associations between the above highlighted factors on adverse fetal growth and (2) recent birth cohort studies regarding environmental health risks. Methods Based on a search of the PubMed database through August 2021, 68 epidemiological studies on gene-environment interactions, focusing on the association between environmental and lifestyle-related chemical exposure and adverse fetal growth was identified. Moreover, we also reviewed recent worldwide birth cohort studies regarding environmental health risks. Results Thirty studies examined gene-smoking associations with adverse fetal growth. Sixteen maternal genes significantly modified the association between maternal smoking and adverse fetal growth. Two genes significantly related with this association were detected in infants. Moreover, the maternal genes that significantly interacted with maternal smoking during pregnancy were cytochrome P450 1A1 ( CYP1A1 ), X-ray repair cross-complementing protein 3 ( XRCC3 ), interleukin 6 ( IL6 ), interleukin 1 beta ( IL1B ), human leukocyte antigen (HLA) DQ alpha 1 ( HLA-DQA1 ), HLA DQ beta 1 ( HLA-DQB1 ), and nicotinic acetylcholine receptor. Fetal genes that had significant interactions with maternal smoking during pregnancy were glutathione S-transferase theta 1 ( GSTT1 ) and fat mass and obesity-associated protein ( FTO ). Thirty-eight studies examined the association between chemical exposures and adverse fetal growth. In 62 of the 68 epidemiological studies (91.2%), a significant association was found with adverse fetal growth. Across the studies, there was a wide variation in the analytical methods used, especially with respect to the genetic polymorphisms of interest, environmental and lifestyle-related chemicals examined, and the study design used to estimate the gene-environment interactions. It was also found that a consistently increasing number of European and worldwide large-scale birth cohort studies on environmental health risks have been conducted since approximately 1996. Conclusion There is some evidence to suggest the importance of gene-environment interactions on adverse fetal growth. The current knowledge on gene-environment interactions will help guide future studies on the combined effects of maternal-child genetic polymorphisms and exposure to environmental and lifestyle-related chemicals during pregnancy. Supplementary information The online version contains supplementary material available ...

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DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status

Cited by 9 publications

References 61 publications

Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth

Maternal LINE-1 DNA Methylation in Early Spontaneous Preterm Birth

Fetal Membrane Epigenetics

Gene-environment interactions related to maternal exposure to environmental and lifestyle-related chemicals during pregnancy and the resulting adverse fetal growth: a review

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