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APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

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dc.contributor.author Sedano-Balbás, Sara en
dc.contributor.author Lyons, Mark en
dc.contributor.author Cleary, Brendan en
dc.contributor.author Murray, Margaret en
dc.contributor.author Gaffney, Geraldine en
dc.contributor.author Maher, Majella en
dc.date.accessioned 2010-08-20T10:26:31Z en
dc.date.available 2010-08-20T10:26:31Z en
dc.date.issued 2010 en
dc.identifier.citation Sedano-Balbás, S.,Lyons, M.,Cleary,B.,Murray,M.,Gaffney,G. & Maher, M. (2010): APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women. BMC Pregnancy and Childbirth 10:11. en
dc.identifier.uri http://hdl.handle.net/10379/1274 en
dc.description.abstract Background: Activated Protein C Resistance (APCR), a poor anticoagulant response of APC in haemostasis, is the commonest heritable thrombophilia. Adverse outcomes during pregnancy have been linked to APCR. This study determined the frequency of APCR, factor V gene known and novel SNPs and adverse outcomes in a group of pregnant women. Methods:Blood samples collected from 907 pregnant women were tested using the Coatest® Classic and Modified functional haematological tests to establish the frequency of APCR. PCR-Restriction Enzyme Analysis (PCR-REA), PCR-DNA probe hybridisation analysis and DNA sequencing were used for molecular screening of known mutations in the factor V gene in subjects determined to have APCR based on the Coatest® Classic and/or Modified functional haematological tests. Glycosylase Mediated Polymorphism Detection (GMPD), a SNP screening technique and DNA sequencing, were used to identify SNPs in the factor V gene of 5 APCR subjects. Results:Sixteen percent of the study group had an APCR phenotype. Factor V Leiden (FVL), FV Cambridge, and haplotype (H) R2 alleles were identified in this group. Thirty-three SNPs; 9 silent SNPs and 24 missense SNPs, of which 20 SNPs were novel, were identified in the 5 APCR subjects. Adverse pregnancy outcomes were found at a frequency of 35% in the group with APCR based on Classic Coatest® test only and at 45% in the group with APCR based on the Modified Coatest® test. Forty-eight percent of subjects with FVL had adverse outcomes while in the group of subjects with no FVL, adverse outcomes occurred at a frequency of 37%. Conclusions:Known mutations and novel SNPs in the factor V gene were identified in the study cohort determined to have APCR in pregnancy. Further studies are required to investigate the contribution of these novel SNPs to the APCR phenotype. Adverse outcomes including early pregnancy loss (EPL), preeclampsia (PET) and intrauterine growth restriction (IGUR) were not significantly more frequent in subjects with APCR compared to normal pregnant women however Pregnancy induced hypertension (PIH) was found to be associated with FVL in our study group. en
dc.format application/pdf en
dc.language.iso en en
dc.subject Biomedical engineering en
dc.title APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women en
dc.type Article en
dc.local.publishedsource http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853494 en
dc.description.peer-reviewed peer-reviewed en
dc.contributor.funder Irish Health Research Board en

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