Variation in endoglin pathway genes is associated with preeclampsia: a case-control candidate gene association study

Preeclampsia is a hypertensive, multi-system pregnancy disorder whose pathophysiology remains unclear. Elevations in circulating soluble endoglin (sENG) and placental/blood ENG mRNA expression antedate the clinical onset of preeclampsia. This study investigated if endoglin (ENG) pathway genetic vari...

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Published in:BMC pregnancy and childbirth 2013-04, Vol.13 (1), p.82-82, Article 82
Main Authors: Bell, Mandy J, Roberts, James M, Founds, Sandra A, Jeyabalan, Arun, Terhorst, Lauren, Conley, Yvette P
Format: Article
Language:English
Subjects:
Activin Receptors, Type II - genetics
Adult
African Continental Ancestry Group - genetics
Antigens, CD - genetics
Case-Control Studies
Design
Endoglin
European Continental Ancestry Group - genetics
Female
Gene Expression
Genetics
Haplotypes
Humans
Polymorphism, Single Nucleotide
Pre-Eclampsia - ethnology
Pre-Eclampsia - genetics
Pregnancy
Protein-Serine-Threonine Kinases - genetics
Receptors, Cell Surface - genetics
Receptors, Transforming Growth Factor beta - genetics
Signal Transduction - genetics
Studies
Transforming Growth Factor beta1 - genetics
Young Adult
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Summary:Preeclampsia is a hypertensive, multi-system pregnancy disorder whose pathophysiology remains unclear. Elevations in circulating soluble endoglin (sENG) and placental/blood ENG mRNA expression antedate the clinical onset of preeclampsia. This study investigated if endoglin (ENG) pathway genetic variation was also associated with the development of preeclampsia. We used a case-control candidate gene association design. Data from 355 white (181 preeclampsia cases/174 controls) and 60 black (30 preeclampsia cases/30 controls) women matched on ancestry, age, and parity were analyzed. Tagging single nucleotide polymorphisms (tSNPs) and potentially functional SNPs in ENG, TGFβ1, TGFβR1, ALK1, and TGFβR2 were genotyped with iPLEX® and TaqMan®. Chi-square or Fisher's exact tests were used to conduct allele/genotype/haplotype tests in white/black subgroups separately. Odds ratios were computed with binary logistic regression for tSNPs with significant genotype tests. Of the 49 SNPs evaluated, variation in two ENG tSNPs (rs11792480, rs10121110) and one TGFβR2 tSNP (rs6550005) was associated with preeclampsia in white women (P
ISSN:1471-2393
1471-2393
DOI:10.1186/1471-2393-13-82