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Specific genetic mutations associated with preeclampsia


Specific genetic mutations in women with autoimmune diseases are associated with preeclampsia--a common pregnancy-related problem that can threaten the health of both baby and mother. Furthermore, investigation of these specific genetic mutations has revealed an association between similar mutations and preeclampsia in women without any underlying autoimmune disease. These are the findings of a study by Jane Salmon a rheumatologist from Hospital for Special Surgery, New York, USA, and colleagues and published in this week's PLoS Medicine.

Preeclampsia complicates 4%-5% of all pregnancies worldwide, causing significant maternal and neonatal mortality. Pregnancy in women with systemic lupus erythematosus (SLE) or the antiphospholipid syndrome (APS), two autoimmune diseases characterized by complement-mediated injury, is associated with an increased risk of preeclampsia.

The authors studied 250 pregnant women with SLE and/or APS. 30 patients developed preeclampsia during the study and 10 more had experienced preeclampsia during a previous pregnancy. The authors studied specific genes [complement regulatory proteins membrane cofactor protein (MCP), factor I and factor H] of these 40 women and found that 7 of the 40 had a mutation in one of these genes. The authors also found that 5 of 59 women who did not have an autoimmune disease but who developed preeclampsia, had mutations in MCP or factor I.

Although further studies are needed to confirm and extend these findings, the results of this study suggest new genetic targets for the treatment of preeclampsia and raise the possibility of developing tests to identify women at risk of developing preeclampsia.

The authors conclude: "Our findings underscore the important role of complement activation in preeclampsia, define mutations and likely mechanisms for increased risk in patients with SLE and/or APS, and suggest new targets for treatment of this important public health problem that, thus far, has defied reliable prediction and satisfactory intervention."


Funding: This research was supported in part by NIH grants AR49772 (JES), NIH 5 RO1 AI037618 (JPA), NIH F30HL103072 NHLBI (MT), NIH 5 T32 AI007172-30 (MT), the Mary Kirkland Center for Lupus Resarch (JES), UK Medical Research Council grant G0701325 (TG), and grants from Assistance Publique-Hopitaux de Paris, Program Hospitalier de Recherche Clinique AOM 08198 (VFB). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing Interests: JES holds stock in Taligen Therapeutics. JPA is on the Scientific Advisory Board and holds stock in Taligen Therapeutics. TG has acted as a Scientific Advisor for Taligen Therapeutics. All other authors have no conflict of interest.

Citation: Salmon JE, Heuser C, Triebwasser M, Liszewski MK, Kavanagh D, et al. (2011) Mutations in Complement Regulatory Proteins Predispose to Preeclampsia: A Genetic Analysis of the PROMISSE Cohort. PLoS Med 8(3): e1001013. doi:10.1371/journal.pmed.1001013



Media Contact:
Phyllis Fisher

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Scientific Contact:

Jane Salmon, MD

Hospital for Special Surgery
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work: (212) 606-1422

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