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Association of the rs1424954 polymorphism of the ACVR2A gene with the risk of pre-eclampsia is not replicated in a Finnish study population

A Inkeri Lokki12, Miira M Klemetti234, Sanna Heino12, Leena Hiltunen5, Seppo Heinonen67 and Hannele Laivuori12*

Author Affiliations

1 Department of Medical Genetics, Haartman Institute, University of Helsinki, P.O. Box 63 (Haartmaninkatu 8), FI-00014 Helsinki, Finland

2 Women's Health, Research Programs Unit, University of Helsinki, Helsinki, Finland

3 Department of Obstetrics and Gynaecology, Helsinki University Central Hospital, Helsinki, Finland

4 The National Graduate School of Clinical Investigation, University of Helsinki, Helsinki, Finland

5 Department of Haemostasis, Finnish Red Cross Blood Service, Helsinki, Finland

6 Department of Obstetrics and Gynaecology, Kuopio University Hospital, Kuopio, Finland

7 University of Eastern Finland, Kuopio, Finland

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BMC Research Notes 2011, 4:545  doi:10.1186/1756-0500-4-545

Published: 19 December 2011

Abstract

Background

Pre-eclampsia/eclampsia is a common vascular pregnancy disorder associated with high maternal and infant mortality and morbidity worldwide. The role of Activin A and more recently type 2 Activin A receptor (ACVR2A) in the pathogenesis of pre-eclampsia has been the subject of genetic and biochemical research with controversial results.

Findings

We genotyped a candidate pre-eclampsia-associated single nucleotide polymorphism rs1424954 in ACVR2A in three independent study populations of Finnish pre-eclamptic (total N = 485) and non-pre-eclamptic (total N = 449) women using pre-designed TaqMan allele discrimination assay and polymerase chain reaction. The possible association of the alleles and genotypes of interest with pre-eclampsia was evaluated using the chi-square test and logistic regression analysis. We found no association of rs1424954 to pre-eclampsia in Finnish patients.

Conclusions

rs1424954 was not associated to pre-eclampsia in the Finnish study population. We hypothesise that while the gene associates to pre-eclampsia worldwide, the causative polymorphism in ACVR2A may be unique in genetically differing populations. Further research is needed to characterise the haplotype structure of ACVR2A in order for the causative genetic variant to be identified.

Keywords:
ACVR2A; Pre-eclampsia; SNP; Activin A