Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR).
Date
2006-03
Authors
Hoek, Kim G.P.
Journal Title
Journal ISSN
Volume Title
Publisher
Stellenbosch : University of Stellenbosch
Abstract
Pre-eclampsia is a multisystemic disorder with an incidence of ~6-8% in non-Caucasian women in the Western Cape. Trophoblast invasion is vital for adequate anchorage of the placenta to the uterine wall as well as for the optimisation of utero-placental blood flow in uncomplicated pregnancies. This process is facilitated by the fetal trophoblast cells that digest the extracellular matrix of the uterus by secreting various molecules, including the metalloproteinases (MMP), of which MMP-9 has an increased production during the first trimester. Leptin, an autocrine regulator of MMP-9 secretion, functions via the leptin receptor to prevent over-invasion of maternal tissues.
The aim of this study was to investigate the role of the leptin (ob) and leptin receptor (obR) genes in predisposition to pre-eclampsia and involved screening the genes in South African non-Caucasian cohorts and performing statistical analysis to determine whether any variants contributed to the disease profile.
Description
Thesis (MSc (Genetics))--University of Stellenbosch, 2006.
Keywords
Dissertations -- Genetics, Theses -- Genetics, Preeclampsia -- Genetic aspects, Leptin, Genetic disorders in pregnancy, Pregnancy -- Complications