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dc.contributor.authorO'Callaghan, M.en
dc.contributor.authorMacLennan, A.en
dc.contributor.authorMcMichael, G.en
dc.contributor.authorHaan, E.en
dc.contributor.authorDekker, G.en
dc.identifier.citationPediatric Research, 2013; 74(4):433-438en
dc.description.abstractBACKGROUND: The aim of this study was to replicate single-nucleotide polymorphism (SNP) associations with preterm birth (PTB; birth at <37 completed weeks of gestation) and synthesize currently available evidence using meta-analysis. METHODS: Spontaneous PTB cases and controls were selected from an existing cohort. Candidate SNPs were taken from an existing genotype panel. A systematic review was conducted for each SNP in the panel to determine suitability as a PTB candidate. Those with significant associations previously reported in Caucasians were selected for replication. Candidate SNPs were already genotyped in cases and controls and clinical data were accessed from state perinatal and cerebral palsy databases. Association analysis was conducted between each SNP and PTB, and meta-analysis was conducted if there were ≥ 3 studies in the literature. Maternal and fetal SNPs were considered as separate candidates. RESULTS: A cohort of 170 cases and 583 controls was formed. Eight SNPs from the original panel of genotyped SNPs were selected as PTB candidates and for replication on the basis of systematic literature review results. In our cohort, fetal factor V Leiden (FVL) was significantly associated with PTB (odds ratio (OR): 2.6, 95% confidence interval (CI): 1.31-5.17), and meta-analysis confirmed this association (OR: 2.71, 95% CI: 1.15-6.4). CONCLUSION: Replication and meta-analysis support an increased risk of PTB in Caucasians with the fetal FVL mutation.en
dc.description.statementofresponsibilityMichael E. O’Callaghan, Alastair H. MacLennan, Gai L. McMichael, Eric A. Haan and Gustaaf A. Dekkeren
dc.publisherInt Pediatric Research Foundation Incen
dc.rightsCopyright © 2013 International Pediatric Research Foundation, Inc.en
dc.subjectFetus; Humans; Premature Birth; Factor V; Odds Ratio; Case-Control Studies; Cohort Studies; Polymorphism, Single Nucleotide; European Continental Ancestry Groupen
dc.titleSingle-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysisen
dc.typeJournal articleen
pubs.library.collectionObstetrics and Gynaecology publicationsen
dc.identifier.orcidO'Callaghan, M. [0000-0001-5038-5859]en
dc.identifier.orcidMcMichael, G. [0000-0002-6811-5301]en
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]en
dc.identifier.orcidDekker, G. [0000-0002-7362-6683]en
Appears in Collections:Cerebral Palsy Research Group publications
Obstetrics and Gynaecology publications

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