Genetic Analysis of Complement Mutations in Preeclampsia
Author Information
Author(s): Jane Salmon, Cara Heuser, Michael Triebwasser, M. Kathryn Liszewski, David Kavanagh, Lubka Roumenina, Branch D. Ware, Tim Goodship, Veronique Fremeaux-Bacchi, John P. Atkinson
Primary Institution: Hospital for Special Surgery, Cornell Weill Medical College
Hypothesis
Impaired capacity to limit complement activation predisposes to preeclampsia in pregnant women with systemic lupus erythematosus or antiphospholipid antibodies.
Conclusion
Risk variants in complement regulatory proteins are associated with preeclampsia in patients with autoimmune diseases and in those without.
Supporting Evidence
- Seven out of 40 patients with preeclampsia had mutations in complement regulatory proteins.
- Five mutations were in MCP or CFI associated with increased risk of hemolytic uremic syndrome.
- Mutations were also found in a cohort of non-autoimmune preeclampsia patients.
Takeaway
Some pregnant women have genes that make it harder for their bodies to control a part of their immune system, which can lead to a serious condition called preeclampsia.
Methodology
The study sequenced genes encoding complement regulatory proteins in pregnant women with systemic lupus erythematosus and/or antiphospholipid antibodies.
Potential Biases
Potential bias due to the exclusion of patients with other risk factors for preeclampsia.
Limitations
The study only analyzed three complement regulatory genes and did not include paternal genetic contributions.
Participant Demographics
67% white, 17% black, 7% Asian, 5% Hispanic, and 4% other.
Statistical Information
P-Value
p<0.01
Confidence Interval
95% CI 1.1–17.6
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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