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Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
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Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles

Published on: January 26, 2024

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Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia

A Inkeri Lokki1,2, Michael Triebwasser3, Emma Daly4

  • 1Translational Immunology Research Program, Research Programs Unit and Bacteriology and Immunology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. inkeri.lokki@helsinki.fi.

Genes and Immunity
|December 17, 2024
PubMed

Insights

Genetic variants in the terminal complement pathway, specifically the membrane attack complex (MAC), are linked to preeclampsia. This study identified specific gene variants that increase preeclampsia risk, offering new insights into its pathogenesis.

Area of Science:

  • Obstetrics and Gynecology
  • Immunology
  • Genetics

Background:

  • Preeclampsia is a common pregnancy complication with multifactorial causes.
  • Dysregulation of the complement system, particularly the membrane attack complex (MAC, C5b-9), is implicated in preeclampsia pathogenesis.

Purpose of the Study:

  • To investigate the association between genetic variants in the membrane attack complex (MAC) genes and preeclampsia risk.
  • To identify specific genetic variants that predispose to or protect against preeclampsia.

Main Methods:

  • Targeted exomic sequencing was performed on 609 women with preeclampsia and 2092 non-preeclamptic controls.
  • Analysis focused on identifying variants within nine genes encoding MAC components.

Main Results:

  • Fourteen variants in nine MAC genes were associated with preeclampsia.
  • Two rare variants in the C5 gene (rs200674959: I1296V and rs147430470: I330T) significantly predispose to preeclampsia (p < 0.01).
  • One predisposing (rs41271067: D396G) and one protective (rs114609505: T190I) rare variant were identified in the C6 gene.

Conclusions:

  • Genetic variants in the terminal complement pathway, including C5 and C6, are associated with preeclampsia.
  • These findings suggest that the terminal complement pathway plays a significant role in preeclampsia development.

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