ArticleGenes and immunity2025
Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia.
Article in Genes and immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Observational
- Comprehensive Prediction Analysis of Novel Noncoding Regulatory Variants Identified in the MicroRNA Binding Regions in Complement System Genes.International journal of molecular sciences · 2026Article
- Complement as a driver of immune-vascular heterogeneity across preeclampsia subtypes: toward a precision medicine framework.Frontiers in immunology · 2026Review
- The role of complement in normal pregnancy and preeclampsia.Frontiers in immunology · 2025Review
- The complement system in human pregnancy and preeclampsia.Frontiers in immunology · 2025Review
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13 authors.
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Abstract
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 preeclampsia. We found two rare missense variants in the C5 gene that predispose to preeclampsia (rs200674959: I1296V, OR (CI95) = 24.13 (1.25-467.43), p value = 0.01 and rs147430470: I330T, OR (CI95) = 22.75 (1.17-440.78), p value = 0.01). In addition, one predisposing rare variant and one protective rare variant were discovered in C6 (rs41271067: D396G, OR (CI95) = 2.93 (1.18-7.10), p value = 0.01 and rs114609505: T190I, 0.02 OR (CI95) = 0.47 (0.22-0.92), p value = 0.02). The results suggest that variants in the terminal complement pathway predispose to preeclampsia.
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