Table 2.
Factor | Type | Effect | Possible Underlying Infertility Pathophysiology | Screening | |
---|---|---|---|---|---|
Cyclins, Cyclin-dependent kinases and their inhibitors (CCNA2, CDK1, CDK2, CDK4, p27) | Protein expression levels | Embryo | NP | Proteomic analysis | |
DNMT3B, HDAC1, TET3 and YY1 | Gene variation | Embryo | NP | Genetic analysis | |
ATG5, CUL3, USP11 and USP2 | Gene variation | Embryo | NP | Genetic analysis | |
TERF1, ERCC1 and XRCC6 | Gene variation | Embryo | NP | Genetic analysis | |
BRCA1 | Gene variation | Both | POR | Genetic analysis | |
ITPR1 | Gene variation | Maternal | NP | Genetic analysis | |
4977-bp mtDNA deletion | Copy numbers | Parental | NP | Genetic analysis | |
HO-1 | Gene variation | Parental | NP | Genetic analysis | |
H19DMR | ICRs | Parental | NP | Transcriptomic analysis | |
Nanog and Oct4 transcription factors | Protein expression levels | Embryo | NP | Methylome analysis | |
piRNA | sncRNA | Embryo | NP | Transcriptomic analysis | |
miRNA mainly of the let-7 family | sncRNA | Both | In females, miRNAs have been associated with endometriosis | Transcriptomic analysis | |
In males, miRNAs have been associated with azoospermia and asthenozoospermia | |||||
Aneuploidy, mosaicism | Chromosomal abnormalities | Embryo | Advanced maternal age | Genetic analysis | |
Caspase-3 | Protein expression levels | Both | sperm DNA fragmentation | Proteomic analysis | |
IL-6 | Protein expression levels | Embryo | NP | Proteomic analysis | |
HRG | Protein expression levels | Embryo | NP | Proteomic analysis | |
HDL and ApoA1 | Protein expression levels | Embryo | NP | Proteomic analysis | |
ABCC8 | Gene expression levels | Embryo | NP | Transcriptomic analysis | |
UBR4 | Gene expression levels | Embryo | NP | Transcriptomic analysis | |
HERC2 | Gene expression levels | Embryo | NP | Transcriptomic analysis | |
EMMPRIN | Gene expression levels | Embryo | NP | Transcriptomic analysis | |
Oxygen consumption | Metabolic biomarker | Embryo | NP | Metabolomic analysis | |
ROS | Metabolic biomarker | Both | ROS in the follicular fluid is related to poor oocyte quality and fertilization failure. | Metabolomic analysis | |
Seminal ROS levels are associated with sperm DNA fragmentation. | |||||
PADI6 | Gene variation | Maternal | oocyte activation failure | Genetic analysis in parents | |
TUBB8 | Gene variation | Both | oocyte meiotic spindle assembly | Genetic analysis in parents | |
NLRP7, TLE6, KHDC3, OOEP | Gene variation | Maternal | Formation of subcortical maternal complex | Genetic analysis | |
NRLP5 | Gene variation | Maternal | Primary infertility | Genetic analysis | |
PATL2 | Gene variation | Maternal | NP | Genetic analysis | |
ZAR1 | Gene variation | Both | Affects MZT | Genetic analysis | |
REC114 | Protein expression levels | Maternal | NP | Proteomic analysis in parents | |
IGF-1, -2 and their respective receptors | Protein or mRNA expression levels | Maternal | POR | Proteomic or transcriptomic analysis in parents | |
IGFBPs, and PAPP-A | Protein expression levels | Maternal | NP | Proteomic analysis in parents | |
FSH, LH and their receptors | Gene variation or Expression levels | Parental | In females: follicular growth | In males: DNA fragmentation, azoospermia | Genetic or Proteomic analysis in parents |
Activin a | Protein expression levels | Parental | Follicular growth | Proteomic analysis in parents | |
WNT4 | Gene variation | Maternal | Endometriosis | Genetic analysis in parents | |
FMR1, GDF-9 and NOBOX | Gene variation | Maternal | POR | Genetic analysis in parents | |
BMP-15 | Gene variation | Both | POR and follicular growth | Genetic analysis in parents | |
PAWP | Protein expression levels | Paternal | Oocyte activation | Proteomic analysis in parents | |
AZF | Gene variation | Paternal | Azoospermia, oligozoospermia and oligoasthenoteratzoospermia | Genetic analysis in parents | |
DPY19L2, SPATA16, PICK1 and GGN | Gene variation | Paternal | Globozoospermia | Genetic analysis in parents |
NP: Not provided; Both: Affecting both the embryo and at least one parent.