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Pre-Eclampsia

Genetics

Maternal family history of pre-eclampsia increases the risk by threefold to fourfold

· Multiple maternal and fetal gene alleles and mutations are associated with pre-eclampsia

· Identified genes are associated with thrombophilic factors, angiogenic factors or immune responses

· Fetal trisomy 13 is associated with increased risk of pre-eclampsia due to the extra copy of FLT1

· Women lacking the activating KIR (AA genotype) have a greater risk of pre-eclampsia when the fetus expresses the HLA-C2 genotype

A genome-wide association meta-analysis identified three sequence variants associated with pre-eclampsia: one in the FLT1 gene and two in the FTO and ZNF831

Several biological candidate genes and polymorphisms have been examined in relation to pre-eclampsia.

Single nucleotide polymorphisms in ERAP2, TNFSF13B, VEGF, eNOS, and CYP11B2 have been found to be associated with pre-eclampsia.(1)

Genetic association studies suggest that pre-eclampsia is multifactorial, and polygenic inheritance with a genetic component is involved in the disease.

A diagnostic signature of seven genes related to the hypoxia-inducible factor 1 (HIF-1) signaling pathway was identified that could differentiate between preeclamptic and healthy pregnancies.

The seven-gene signature includes ANGPT2, PGF, PDK1, P4HA1, ADM, KDR, and GPR56.

The diagnostic accuracy of the seven-gene signature was validated in an independent cohort of pregnant women with preeclampsia and healthy controls.

The study suggests that the HIF-1 signaling pathway may play a critical role in the pathogenesis of preeclampsia and that the identified gene signature may be useful for early diagnosis and management of the disease.

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Table 1

Table 1

Column 1

Column 2

Column 3

Column 4

Column 5

Column 6

SASH1

ZADHHC8P1

SART3

MTHFR

activin A receptor type 2A (ACVR2)

VCAN

DUSP1

TLR2

STOX1

IGF1

TNFSF13B

rho associated coiled-coil containing protein kinase 2 (ROCK2)

LDHA

HPS3

RUFY3

IL4R

The human prothrombin (F2)

endoplasmic reticulum aminopeptidase 1 (ERAP1)

MCL1

PAEP

EPAS

IGF2R

factor V gene

ITPR1

MET

OXGR1

SEMA3C

GNB3

SERPINE1 gene

DLG2

ZFP36

FOS

MMP12/14

CSF1

(encodes endothelial plasminogen activator inhibitor-1 (PAI-1)

LEP

STAT1

FN1

THBS4

FLT1

ATXN1

NRIP1

ITGB1

There are no rows in this table

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References

Association of Maternal and Fetal Single-Nucleotide Polymorphisms in Metalloproteinase (MMP1, MMP2, MMP3, and MMP9) Genes with Preeclampsia

2. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

3. Ehret G. (2018). Genes for Preeclampsia: An Opportunity for Blood Pressure Genomics. Hypertension (Dallas, Tex. : 1979), 72(2), 285–286.

https://doi.org/10.1161/HYPERTENSIONAHA.118.10840⁠

⁠

4. The genetic component of preeclampsia: A whole-exome sequencing study Anette Tarp Hansen1,2,3*, Jens Magnus Bernth Jensen3,4, Anne-Mette Hvas1,3, Mette Christiansen4

5. Identification of key microRNAs and genes in preeclampsia by bioinformatics analysisIdentification of key microRNAs and genes in preeclampsia by bioinformatics analysis

6. Yang, X., Yu, L., Ding, Y. et al. Diagnostic signature composed of seven genes in HIF-1 signaling pathway for preeclampsia. BMC Pregnancy Childbirth 23, 233 (2023). https://doi.org/10.1186/s12884-023-05559-9

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