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

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

Ngôn ngữ: eng

Ký hiệu phân loại: 001.4226 Research; statistical methods

Thông tin xuất bản: England : Genes and immunity , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 175947

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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