Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia

Preeclampsia is a common multifactorial disease of pregnancy. Dysregulation of the complement activation is among emerging candidates responsible for disease pathogenesis. In a targeted exomic sequencing study we identified 14 variants within nine genes coding for components of the membrane attack c...

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Main Authors Lokki, A, Triebwasser, Michael, Daly, Emma, Cohort, Finnpec, Kurki, Mrtja, Perola, Markus, Auro, Kirsi, Salmon, Jane, Java, Anuja, Daly, Mark, Atkinson, John, Laivuori, Hannele, Meri, Seppo
Format Journal Article
LanguageEnglish
Published United States 02.04.2024
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Summary:Preeclampsia is a common multifactorial disease of pregnancy. Dysregulation of the complement activation is among emerging candidates responsible for disease pathogenesis. In a targeted exomic sequencing study 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 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 (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 terminal complement pathway predispose to preeclampsia.