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Article

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

Genes and immunity - 1 Feb 2025

Lokki A Inkeri, Triebwasser Michael, Daly Emma, Kurki Mitja I, Perola Markus, Auro Kirsi, Salmon Jane E, Anuja Java, Daly Mark, Atkinson John P, Laivuori Hannele, Meri Seppo

Abstract excerpt

Preeclampsia is a common multifactorial disease of pregnancy. Dysregulation of complement activation is among emerging candidates responsible for disease pathogenesis. In a targeted exomic sequencing study of 609 women with preeclampsia and 2092 non-preeclamptic controls, we identified 14 variants within nine genes coding for components of the membrane attack complex (MAC, C5b-9) that are associated with...

Topics

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Case-Control Studies
Complement Activation
Complement C5
Genetic Variation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 39690307
DOI: 10.1038/s41435-024-00310-6
PMCID: PMC11832413

Genes

C5
C6

Variants

rs200674959
rs41271067
rs114609505

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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