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

• Published in: BMC research notes Vol. 4; no. 1; p. 545
• Main Authors: Lokki, A Inkeri, Klemetti, Miira M, Heino, Sanna, Hiltunen, Leena, Heinonen, Seppo, Laivuori, Hannele
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 19.12.2011; BioMed Central; BMC
• Subjects: Activin A; ACVR2A; Genetic aspects; Health risk assessment; Hospitals; Mothers; Patient outcomes; Pre-eclampsia; Preeclampsia; Pregnancy; Proteins; Risk factors; Short Report; Single nucleotide polymorphisms; SNP; Studies; Womens health; Finland
• ISSN: 1756-0500; 1756-0500
• DOI: 10.1186/1756-0500-4-545

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. 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. 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.