Placental cis-eQTL analysis identifies preeclampsia-dependent genetic regulation at promoters

Authors

Yazgeldi Gunaydin, G., Leinonen, J., Ezer, S., Kajantie, E., Kivinen, K., Heinonen, S., Pouta, A., FINNPEC Group,, Laivuori, H., Wedenoja, S., Kere, J., Katayama, S.

Abstract

Background: Preeclampsia (PE) is a hypertensive pregnancy disorder with contributions from both maternal and fetal genetic factors, but how both genomes regulate placental transcription remains incompletely understood. Results: We analyzed placental 5'-end RNA sequencing data from 59 pregnancies in the FINNPEC cohort and performed separate maternal and fetal cis-eQTL analyses using gene-level expression and promoter-level expression defined as Transcript Far 5' Ends (TFE). Genotype-by-PE interaction models were used to identify genetic effects that differ according to PE status. No gene-level interaction eQTLs remained significant after multiple-testing correction, although suggestive signals included LILRB2 in the maternal and LPCAT3 in the fetal analyses. In contrast, we identified two significant syntenic promoter-level interaction eQTLs: rs12504642-TFE61820 at the FHDC1 locus in the maternal analysis and rs1557150-TFE9032 at the PPIAP31 locus in the fetal analysis. Conclusion: These findings suggest that PE-dependent genetic interaction effects may be detectable at specific transcript promoter regions even when they are not captured at annotated gene levels.

Preprint server: bioRxiv
The authors list and abstract were imported from bioRxiv on 08 Oct 2026.

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