Placental expression profile of imprinted genes impacts birth weight

Kappil, Maya; Green, Benjamin B.; Armstrong, David A.; Sharp, Andrew J.; Lambertini, Luca; Marsit, Carmen J.; Chen, Jia

doi:10.1080/15592294.2015.1073881

Cited by 79 publications

(93 citation statements)

References 28 publications

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“…Furthermore, the DNA methylation at these imprinted genes are resistant to a second epigenetic reprogramming event, which occurs in the pronuclei of the fertilized oocyte immediately after fertilization (Messerschmidt et al, 2014). The integrity of DNA methylation patterns at these imprinted genes is thought to be vital to the embryo as these genes are important for growth and development during pregnancy (Kappil et al, 2015). Altogether, DNA methylation appears to play a fundamental role in healthy germline development and spermatogenesis, as well as a possible role in offspring development via the inheritance of DNA methylation from spermatozoa.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of DNA methylation at imprinted DMRs in the spermatozoa of oligozoospermic men in association withMTHFRC677T genotype

Louie

Minor

et al. 2016

Andrology

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SUMMARYAltered DNA methylation has been previously identified in the spermatozoa of infertile men; however, the origins of these errors are poorly understood. DNA methylation is an epigenetic modification which is thought to play a fundamental role in male germline development. DNA methylation reactions rely on the cellular availability of methyl donors, which are primarily products of folate metabolism, where a key enzyme is methylenetetrahydrofolate reductase (MTHFR). The MTHFR C677T single nucleotide polymorphism (SNP) reduces enzyme activity and may potentially alter DNA methylation processes during germline development. The objective of this study was to determine whether altered DNA methylation in spermatozoa is associated with the MTHFR C677T SNP. DNA methylation was evaluated at the H19, IG-GTL2, and MEST imprinted differentially methylated regions in the spermatozoa of 53 men -44 oligozoospermic men and nine fertile men with normal sperm parameters via bisulfite sequencing of sperm clones. The 44 infertile men were stratified by severity of oligozoospermia -three normal (>15 million spermatozoa/mL), eight moderate (5-15 million spermatozoa/mL), 23 severe (1-5 million spermatozoa/mL), and 10 very severe (<1 million spermatozoa/mL). MTHFR C677T SNP genotyping was conducted in a subset of 44 peripheral blood samples via restriction fragment length polymorphism. A total of three men -severe oligozoospermic and CT genotype -were found to be altered, which is defined as having ≥50% of their clones altered, where an altered clone was in turn defined as ≥50% of CpGs with incorrect DNA methylation patterns. The incidence of three altered men within the CT subgroup, however, was not significantly higher than the incidence in the CC subgroup. Taken together, altered DNA methylation in spermatozoa was not significantly associated with the MTHFR C677T SNP; however, there was a trend for higher incidence of alterations among severe oligozoospermic infertile men with CT genotypes.

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Section: Introductionmentioning

confidence: 99%

Evaluation of DNA methylation at imprinted DMRs in the spermatozoa of oligozoospermic men in association withMTHFRC677T genotype

Louie

Minor

et al. 2016

Andrology

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“…This syndrome has been proven to be epigenetically and phenotypically similar to epigenetic Beckwith-Wiedemann's syndrome in humans, which also seems to occur more often after IVF conception [19]. Besides, placental expression of certain imprinted genes has already been connected to altered LGA risk in term pregnancies [20].…”

Section: Introductionmentioning

confidence: 99%

Independent factors influencing large-for-gestation birth weight in singletons born after in vitro fertilization

Korošec

Frangež

Steblovnik

et al. 2015

J Assist Reprod Genet

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Purpose Higher risk for birth of singletons being large for gestational age (LGA) has been revealed after in vitro fertilization (IVF) frozen-thawed embryo-transfer (FET). This phenomenon is now being investigated, since there is a speculation that these neonates could suffer from underlying epigenetic disturbances. The aim of the study was to expose independent LGA risk factors and to identify those connected to the IVF techniques. Methods Altogether, 4508 singleton pregnancies and births were included in the cohort case-matched study. Two hundred eleven singleton pregnancies and births after FET and 916 after fresh embryo transfer (ET) were included into two study groups. The IVF procedures were performed at the University Medical Centre Ljubljana between 2004 and 2011. For each IVF pregnancy, three matched consecutive controls after natural conception were included. Using logistic regression models, we observed LGA connection to maternal parameters (smoking, hypertension, parity, BMI, gestational diabetes, IVF conception, FET, double ET, and ICSI procedure).Results Singletons born after FET had a significantly higher risk for being LGA (p=0.032; OR 1.697; 95 % CI 1.047-2.752). BMI 25-30 was a significant independent risk factor for LGA in the IVF groups (FET p=0.041, OR 2.460, 95 % CI 1.030-5.857 and fresh ET p=0.003; OR 2.188, 95 % CI 1.297-3.691). ICSI and double ET had no significant effect on LGA occurrence. Conclusions Besides maternal BMI, FET is a significant independent LGA risk factor in IVF patients. Other observed factors (smoking, hypertension, multiparity, GDM, ICSI procedure, or number of embryos transferred) do not influence LGA risk significantly.

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“…Nine imprinted genes were positively associated with large for gestational age (LGA) status, including MEST, BLCAP,H19,NDN,PLAGL1,DLK1,IGF2,MEG3 and NNAT, in an order of decreased odds ratio. MEST expression was negatively associated with a risk of SGA status, suggesting it as a novel biomarker for analyzing postnatal health outcomes (Kappil et al 2015). Another study group found four downregulated genes (CDKAL1, DHCR24, PLAGL1 and ZNF331) and five upregulated genes (CCDC86, ILK, NNAT, PEG10 and PHLDA2) in the FGR placentas of human.…”

Section: Imprinted Genes and Epigenetic Changes Are Involved In The Cmentioning

confidence: 99%

“…www.reproduction-online.org was mediated by the up-regulation of MMP-2, MMP-9 and TIMP-1 (Chen et al 2015). Significantly decreased invasive ability and migration were observed in EVT by knocking down the maternally imprinted gene MEST in HTR8/SVneo cells.…”

Section: R234mentioning

confidence: 99%

Progress in the understanding of the etiology and predictability of fetal growth restriction

Tang

Liu

et al. 2017

Reproduction

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Fetal growth restriction (FGR) is defined as the failure of fetus to reach its growth potential for various reasons, leading to multiple perinatal complications and adult diseases of fetal origins. Shallow extravillous trophoblast (EVT) invasion-induced placental insufficiency and placental dysfunction are considered the main reasons for idiopathic FGR. In this review, first we discuss the major characteristics of anti-angiogenic state and the pro-inflammatory bias in FGR. We then elaborate major abnormalities in placental insufficiency at molecular levels, including the interaction between decidual leukocytes and EVT, alteration of miRNA expression and imprinted gene expression pattern in FGR. Finally, we review current animal models used in FGR, an experimental intervention based on animal models and the progress of predictive biomarker studies in FGR. Free Chinese abstract: A Chinese translation of this abstract is freely available at http://www.reproduction-online.org/content/153/6/ R227/suppl/DC1. Reproduction (2017) 153 R227-R240

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Placental expression profile of imprinted genes impacts birth weight

Cited by 79 publications

References 28 publications

Evaluation of DNA methylation at imprinted DMRs in the spermatozoa of oligozoospermic men in association withMTHFRC677T genotype

Evaluation of DNA methylation at imprinted DMRs in the spermatozoa of oligozoospermic men in association withMTHFRC677T genotype

Independent factors influencing large-for-gestation birth weight in singletons born after in vitro fertilization

Progress in the understanding of the etiology and predictability of fetal growth restriction

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