Prof Shaun Brennecke, Dr Eric Moses, Dr Susan Forrest, Dr Christine East, Ms Elizabeth Fitzpatrick, Prof Des Cooper, Dr John Blangero
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- Pre-eclampsia (PE) is the most common serious medical disorder of human pregnancy. Particularly in their first pregnancy, pregnant women can suffer from high blood pressure, kidney dysfunction leading to leakage of protein into the urine, swelling of hands, feet and face, and, in severe cases, dizziness, headaches and difficulties with vision. This condition is called pre-eclampsia. If left untreated, it can lead to convulsions and other life-threatening problems for both mother and baby. Pre-eclampsia only occurs when a woman is pregnant, and currently, the only cure for it is to end the pregnancy, even if the baby is not yet ready for birth.
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- In Australia, mild pre-eclampsia occurs in 5-10% of pregnancies and severe pre-eclampsia in 1-2% of pregnancies. Pre-eclampsia and complications associated with this condition account for 15% of direct maternal mortality and 10% of perinatal mortality. Pre-eclampsia is the indication for 20% of labour inductions and 15% of Caesarean sections. It also accounts for 5-10% of preterm deliveries. Worlwide, pre-eclampsia and its complications kill many tens of thousands of women and their babies each year.
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- There is compelling evidence that in many cases pre-eclampsia has a genetic basis, albeit a complex one. With funding support from the National Institutes of Health in the USA, we are undertaking a comprehensive genetic analysis of Australian families affected by PE and have found evidence for a susceptibility' region on chromosome 2. We are now focussing our efforts on this chromosome 2 region to identify the gene(s) responsible.
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- The potential significance of this project is threefold. Firstly, when the gene is identified, the production of a clinical test both for the early (pre-pregnancy) detection of women at risk and for the actual diagnosis of pre-eclampsia in cases of clinical uncertainty would become feasible. Secondly, such a test, in turn, would facilitate early preventive treatment and thereby improve the outcome for mothers and babies. Thirdly, the knowledge gained would guide further studies on the causes of pre-eclampsia and aid in the development of new treatments for it.
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For more information please contact Prof Shaun Brennecke
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Recent publications relevant to this project:
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Roten LT, Johnson MP, Forsmo S, Fitzpatrick E, Dyer TD, Brennecke SP, Blangero J, Moses EK, Austgulen R. (2008)
Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).
European Journal of Human Genetics. 2008 Sep 10. [Epub ahead of print]
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Moses EK, Johnson MP, Tømmerdal L, Forsmo S, Curran JE, Abraham LJ, Charlesworth JC, Brennecke SP, Blangero J, Austgulen R. (2008)
Genetic association of preeclampsia to the inflammatory response gene SEPS1.
American Journal of Obstetrics and Gynecology. 198(3):336.e1-5
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Johnson MP, Fitzpatrick E, Dyer TD, Jowett JB, Brennecke SP, Blangero J, Moses EK. (2007)
Identification of two novel quantitative trait loci for pre-eclampsia susceptibility on chromosomes 5q and 13q using a variance components-based linkage approach.
Molecular Human Reproduction 13(1):61-7
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Doherty VL, Rush AN, Brennecke SP, Moses EK. (2006)
The -56T HLA-G promoter polymorphism is not associated with preeclampsia/eclampsia in Australian and New Zealand women.
Hypertension in Pregnancy. 25(2):63-71
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Moses EK, Fitzpatrick E, Freed KA, Dyer TD, Forrest S, Elliott K, Johnson MP, Blangero J, Brennecke SP. (2006)
Objective prioritization of positional candidate genes at a quantitative trait locus for pre-eclampsia on 2q22.
Molecular Human Reproduction. 12(8):505-512
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