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Scientists Discover Genetic Changes that May Predispose Women to Preeclampsia

Results May Lead to Test to Identify Women at Risk of this Pregnancy-Related Complication

New York—March 22, 2011

Jane Salmon, MDScientists have discovered genetic defects that appear to predispose women to a common pregnancy-related medical problem called preeclampsia that can threaten the life of both baby and mother.

Lead investigator Jane Salmon, M.D., a rheumatologist and senior scientist at Hospital for Special Surgery in New York City, and colleagues uncovered genetic mutations in women with the autoimmune diseases associated with increased risk of preeclampsia, as well as in patients with preeclampsia who did not have an autoimmune disease.

Their findings appear in an article in this week’s PLoS Medicine, a peer-reviewed open-access journal published by the Public Library of Science.

Preeclampsia affects up to 10 percent of pregnancies in the United States. The condition claims the lives of more than 60,000 women each year in developing countries. It is diagnosed by the onset of high blood pressure and appearance of protein in the urine. Because the cause of preeclampsia is unknown, there are no reliable means to predict its occurrence and no satisfactory prevention or treatment. When preeclampsia becomes life-threatening, the only option is to deliver the baby pre-term.

In the study, Dr. Salmon and colleagues focused on women with systemic lupus erythematosus and antiphospholipid antibody syndrome, which are autoimmune diseases. The women are participants in a multi-center research initiative led by Dr. Salmon known as PROMISSE (Predictors of pRegnancy Outcome: bioMarkers In antiphospholipid antibody Syndrome and Systemic lupus Erythematosus) and funded by the National Institutes of Health since 2003 to identify biomarkers that predict poor pregnancy outcomes in women with lupus and antiphospholipid antibody syndrome. Dr. Salmon is also co-director of the Mary Kirkland Center for Lupus Research at Hospital for Special Surgery.

The study authors hypothesized that genetic variations in proteins that regulate the complement pathway (a series of factors that provides protection from invading microbes) lead to unchecked inflammation, and that such impaired complement regulation, when it occurs in the placenta, may trigger preeclampsia.

In the new study, researchers analyzed DNA from 250 pregnant women with lupus and/or antiphospholipid antibodies. Thirty patients developed preeclampsia during the study, and 10 additional patients had had preeclampsia during a previous pregnancy. The investigators studied specific genes that regulate complement-driven inflammation in these 40 women and found that seven women had a mutation in one of the genes. The investigators also analyzed DNA from 59 women who did not have autoimmune disease, but developed severe preeclampsia, and found that five women in this group had a mutation in one of the genes.

“This study identifies the first genetic risk factors associated with preeclampsia in patients with lupus and/or antiphospholipid antibodies, and also validates these risk factors in a population of patients who do not have an autoimmune disease,” Dr. Salmon said.

Although additional research is needed, the results of the study suggest new targets for treating preeclampsia and raise the possibility that tests to identify women at increased risk for preeclampsia can be developed, according to Dr. Salmon. The research was funded by a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Other authors of the study include Michael Triebwasser, M. Kathryn Liszewski, John P. Atkinson from the Department of Medicine/Division of Rheumatology, Washington University School of Medicine, St. Louis; Cara Heuser and Ware Branch from the Department of Obstetrics and Gynecology, University of Utah, Salt Lake City; David Kavanagh and D. Tim Goodship from Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, U.K.; and Lubka Roumenina and Veronique Fremeaux-Bacchi from Assistance Publique-Hopitaux de Paris, Hôpital Européen Georges-Pompidou, Service d’Immunologie Biologique, Paris.

For a link to the article, go to: http://www.plosmedicine.org/article/info%3Adoi%2F10.1371%2Fjournal.pmed.1001013.


About HSS | Hospital for Special Surgery
HSS is the world’s leading academic medical center focused on musculoskeletal health. At its core is Hospital for Special Surgery, nationally ranked No. 1 in orthopedics (for the ninth consecutive year) and No. 3 in rheumatology by U.S.News & World Report (2018-2019). Founded in 1863, the Hospital has one of the lowest infection rates in the country and was the first in New York State to receive Magnet Recognition for Excellence in Nursing Service from the American Nurses Credentialing Center four consecutive times. The global standard total knee replacement was developed at HSS in 1969. An affiliate of Weill Cornell Medical College, HSS has a main campus in New York City and facilities in New Jersey, Connecticut and in the Long Island and Westchester County regions of New York State. In 2017 HSS provided care to 135,000 patients and performed more than 32,000 surgical procedures. People from all 50 U.S. states and 80 countries travelled to receive care at HSS. In addition to patient care, HSS leads the field in research, innovation and education. The HSS Research Institute comprises 20 laboratories and 300 staff members focused on leading the advancement of musculoskeletal health through prevention of degeneration, tissue repair and tissue regeneration. The HSS Global Innovation Institute was formed in 2016 to realize the potential of new drugs, therapeutics and devices. The culture of innovation is accelerating at HSS as 130 new idea submissions were made to the Global Innovation Institute in 2017 (almost 3x the submissions in 2015). The HSS Education Institute is the world’s leading provider of education on the topic on musculoskeletal health, with its online learning platform offering more than 600 courses to more than 21,000 medical professional members worldwide. Through HSS Global Ventures, the institution is collaborating with medical centers and other organizations to advance the quality and value of musculoskeletal care and to make world-class HSS care more widely accessible nationally and internationally.


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