2006
DOI: 10.1093/molehr/gal056
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Objective prioritization of positional candidate genes at a quantitative trait locus for pre-eclampsia on 2q22

Abstract: Pre-eclampsia/eclampsia (PE/E) is a common, serious medical disorder of human pregnancy. Familial association of PE/E has been recognized for decades, but the genetics are complex and poorly understood. In an attempt to identify PE/E susceptibility genes, we embarked on a positional cloning strategy using 34 Australian and New Zealand PE/E pedigrees. An initial 10-cM resolution genome scan revealed a putative susceptibility locus spanning a broad region on chromosome 2 that overlaps an independently determined… Show more

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Cited by 66 publications
(81 citation statements)
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References 60 publications
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“…20 -23 Interestingly, a type II receptor (activin receptor IIA) and two type I receptors (ALK2 and ALK7) are located on chromosome 2q22, which contains a preeclampsia susceptibility locus, and the potential association of these receptors, particularly activin receptor IIA, with preeclampsia has been suggested. 24,25 To further elucidate the role of Nodal/ALK7 signaling in human placenta, we performed immunohistochemical (IHC) analysis to determine Nodal and ALK7 expression in normal and preeclamptic placentae. We also investigated the role and mechanism of Nodal in trophoblast cell migration and invasion.…”
mentioning
confidence: 99%
“…20 -23 Interestingly, a type II receptor (activin receptor IIA) and two type I receptors (ALK2 and ALK7) are located on chromosome 2q22, which contains a preeclampsia susceptibility locus, and the potential association of these receptors, particularly activin receptor IIA, with preeclampsia has been suggested. 24,25 To further elucidate the role of Nodal/ALK7 signaling in human placenta, we performed immunohistochemical (IHC) analysis to determine Nodal and ALK7 expression in normal and preeclamptic placentae. We also investigated the role and mechanism of Nodal in trophoblast cell migration and invasion.…”
mentioning
confidence: 99%
“…Dazu gehören u. a. die Gene fĂŒr den Activin-Rezeptor Typ II (ACVR2), fĂŒr plazentare Aminopeptidasen und Peptidhormone [56,57]. Bisher gibt es zwar nur wenige Untersuchungen zu Plazentagenen und PrĂ€eklampsie, die vorliegenden Ergebnisse sind aber vielversprechend, sodass weitergehende Analysen auf diesem Gebiet durchgefĂŒhrt werden sollten.…”
Section: Plazentationunclassified
“…Other approaches described in the present literature propose genotyping of all the coding SNPs (Bergholdt et al, 2005) or a selection of (validated) intragenic SNPs (Curran et al, 2006;Moses et al, 2006), sequencing the gene and comparing discordant subjects (Dash et al, 2006;Lowe et al, 2007), using evenly spaced SNPs throughout the gene (Lou et al, 2007;Palmer et al, 2006), or combinations of the previous methods (Hinks et al, 2006;Nicolae et al, 2005;Wang et al, 2007;Wilson et al, 2006;Yang et al, 2005). This field is clearly evolving rapidly, but it is beyond the scope of this manuscript to go into detail on each of these methods.…”
Section: Snp Selectionmentioning
confidence: 99%