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Journal of Medical Genetics 2001;38:775-777; doi:10.1136/jmg.38.11.775
Copyright © 2001 by the BMJ Publishing Group Ltd.
J Med Genet 2001;38:775-777 ( November )

Letters to the editor

Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa

Kevin M O'Shaughnessya, Beiyuan Fua, Sarah Downinga, Nicholas H Morrisb

a Clinical Pharmacology Unit, Department of Medicine, University of Cambridge Clinical School, Cambridge, UK, b Academic Department of Obstetrics and Gynaecology, Chelsea and Westminster Hospital and North London Hospitals Trust, London, UK

Correspondence to: Dr O'Shaughnessy, Clinical Pharmacology Unit, Level 6 ACCI, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, kmo22@medschl.cam.ac.uk

The first 150 words of the full text of this article appear below.

    Introduction

EDITOR---Pre-eclampsia is a heritable endothelial disorder, which is unique to pregnancy1 and characteristically associated with haemostatic and thrombophilic abnormalities. This association has led to the identification of a number of gene variants that might confer thrombophilic risk in pre-eclampsia. An increased carrier rate for two of these polymorphisms, factor V Leiden2 and the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR),3 has been reported in some women with pre-eclampsia. However, we have been unable to replicate these findings in our own East Anglian population.4

We have now looked at two further candidate thrombophilic polymorphisms in our pre-eclampsia cohort that are involved in the regulation of vascular thrombosis. The first is the 20210G>A polymorphism in the 3' UTR region of the prothrombin (PT) gene that causes a modest rise in plasma prothrombin levels,5 and is reportedly associated with severe pre-eclampsia in an Israeli cohort.6 The second is a coding variant (98C>T) . . . [Full text of this article]


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