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Table 2 Effects of ART on imprinted genes and retrotransposable element expression and methylation in chorionic villous samples from abortion, peripheral blood, cord blood and placenta

From: The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy

Control group Manipulation group Gene Sample Technique for expression Results of expression analysis Technique for methylation Results of methylation analysis References
Trends Fold change Trends Differential methylation level  
30 NC 18 IVF or ICSI KCNQ1OT1 CPB NA   MS-PCR MS-PCR: hypoM (3/12)   [188]
MSED-qPCR MSED-qPCR: =
CB =
P =
13 NC 10 IVF MEST CB RT-qPCR =   Methylation array ? 21.8 % [77]
SLC22A2 CB =   3.0 %
PEG10 CB =   4.2 %
PEG3 CB =   5.2 %
GNAS CB =   3.0 %
NNAT CB =   1.6 %
PEG3 P =   6.7 %
MEST P 2.09-fold 1.9 %
SLC22A2 P =   7.3 %
77 NC 35 IVF MEST MPB/CB NA   SIRPH MBP: 2.0 %, CB: 3.0 % [143]
MEST ACM =  
KCNQ1OT1, H19, SNRPN, GRB10, DLK1/MEG3 IG-DMR, GNAS NESP55, GNAS NESPas, GNAS XL-alpha-s, GNAS Ex1A MPB/CB =  
77 ICSI MEST, KCNQ1OT1, H19, SNRPN, GRB10, DLK1/MEG3 IG-DMR, GNAS NESP55, GNAS NESPas, GNAS XL-alpha-s, GNAS Ex1A MPB/CB/ACM =  
77 ICSI 35 IVF MEST MPB/CB MBP: 3.0 %, CB: 3.0 %
MEST ACM =  
KCNQ1OT1, H19, SNRPN, GRB10, DLK1/MEG3 IG-DMR, GNAS NESP55, GNAS NESPas, GNAS XL-alpha-s, GNAS Exon1A MPB/CB =  
29 NC 24 IVF, 14 ICSI, 4 IVF or ICSI KCNQ1OT1 CVS NA    Bisulphite pyrosequencing 4.0 % [146]
H19, MEG3, MEST, NESP55, PEG3, SNRPN CVS   =
12 NC 45 ART H19 CB RT-qPCR =   Parental allele-specific methylation =   [145]
IGF2R CB 0.61-fold =  
H19 P 0.72-fold ↑ LOI  
IGF2 P 0.52-fold   NA  
IGF2R P =   =  
12 NC 32 IVF, 45 ICSI H19 P NA   MS-SNuPE =   [141]
30 NC 61 ART H19 CB NA   COBRA + sequencing =   [140]
59 NC 59 IVF KCNQ1 CB NAa   Bisulfite pyrosequencing 0.6 % [142]
MEST, GRB10, H19, IGF2 DMR0, SNRPN CB =  
SNRPN P 1.7 %
MEST P 3.4 %
H19 P 1.3 %
GRB10, IGF2 DMR0, KCNQ1 P =  
27 NC 27 OI KCNQ1 CB 1.3 %
SNRPN CB 2.1 %
GRB10, MEST, H19, IGF2DMR0 CB =  
SNRPN P 2.1 %
H19 P 4.5 %
KCNQ1, GRB10, MEST, IGF2 DMR0 P =  
35 NC 5 IVF, 30 ICSI MEST P RT-qPCR =   Bisulfite pyrosequencing ND [144]
MEG3 P NA   ND
H19 P 1.3-fold ND
(H19 CTCF6)
IGF2 P =   NA  
PEG3, SNRPN, KCNQ1OT1, IG-DMR P NA   =  
121 NC 73 ART ALU-Yb8, LINE-1 P/CB NA NA Bisulfite pyrosequencing =   [134]
DIRAS3, NAP1L5, ZAC1, IGF2R, FAM50B, MEST, GRB10, PEG10, PEG13, INPP5Fv2, H19, KCNQ1OT1, RB1, MEG3, SNRPN, ZNF597, ZNF331, C19MC, PEG3, MCTS2, NNAT, L3MTBL, NESP, GNAS XL, GNAS Ex1A P/CB    Methylation array =  
23 NC 73 ART PHLDA2, GTL2, H19, ZNF331, ZNF597, C19MC, FAM50B, MEST, HYMAI, ZAC1, IGF2, KCNQ1OT1 P Sequenom iPLEX assay Monoallelic    
8 NC 10 IVF GNAS (2 sites), PLAGL1, ZIM2, DIRAS3 CB    Methylation array ND [139]
  1. ACM amnion/chorion membranes, ART assisted reproductive technologies, CB cord blood, COBRA combined bisulfite restriction analysis, CPB child peripheral blood, CVS chorionic villous samples, hypoM hypomethylation, ICSI intra-cytoplasmic sperm injection, IVF in vitro fertilization, LOI loss of imprinting, MPB maternal peripheral blood, MSED-qPCR methylation-sensitive enzymatic digestion associated with quantitative PCR method, MS-PCR methylation-specific PCR, MS-SNuPE methylation-sensitive single nucleotide primer extension, NA not analyzed, NC naturally conceived, ND not documented, OI ovulation induction, P placenta, RT-qPCR quantitative reverse transcription PCR, SIRPH single nucleotide primer extension assays in combination with ion pair reverse phase high performance liquid chromatography separation techniques, ↑: increased, ↓: decreased , =: no significant difference compared with control
  2. aAnalysed only on a subset of individuals with outrange methylation levels for three imprinted genes (H19, KCNQ1, SNRPN) but no comparisons between conception groups