Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22291124
TITLE
Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study.
ABSTRACT
OBJECTIVE NlmCategory: OBJECTIVE
Previous studies have suggested associations between certain genetic variants and susceptibility to cerebral palsy (CP). This study was designed to assess established and novel maternal and child genetic and epidemiologic risk factors for CP along with their interactions.
METHODS NlmCategory: METHODS
DNA from 587 case and 1154 control mother-child pairs was analyzed. A panel of 35 candidate single nucleotide polymorphisms (SNPs) were examined and included SNPs in genes associated with (1) thrombophilia, (2) inflammation, and (3) risk factors for CP (eg, preterm birth). Comparisons were specified a priori and made by using a Ï?(2) test.
RESULTS NlmCategory: RESULTS
There were 40 fetal and 28 maternal associations with CP when analyzed by CP subtype, gestational age, genotypes of apolipoprotein E, and haplotypes of mannose-binding-lectin. After Bonferroni correction for multiple testing, no fetal or maternal candidate SNP was associated with CP or its subtypes. Only fetal carriage of prothrombin gene mutation remained marginally associated with hemiplegia in term infants born to mothers with a reported infection during pregnancy. Odds ratio directions of fetal SNP associations were compared with previously reported studies and confirmed no trend toward association.
CONCLUSIONS NlmCategory: CONCLUSIONS
Except for the prothrombin gene mutation, individual maternal and fetal SNPs in our candidate panel were not found to be associated with CP outcome. Past reported SNP associations with CP were not confirmed, possibly reflecting type I error from small numbers and multiple testing in the original reports.
DATE PUBLISHED
2012 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2012/01/30
entrez 2012/02/01 06:00
pubmed 2012/02/01 06:00
medline 2012/03/28 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
O'Callaghan ME O'Callaghan Michael E ME Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, The Robinson Institute, Australia. michael.ocallaghan@student.adelaide.edu.au
Maclennan AH Maclennan Alastair H AH
Gibson CS Gibson Catherine S CS
McMichael GL McMichael Gai L GL
Haan EA Haan Eric A EA
Broadbent JL Broadbent Jessica L JL
Goldwater PN Goldwater Paul N PN
Painter JN Painter Jodie N JN
Montgomery GW Montgomery Grant W GW
Dekker GA Dekker Gus A GA
Australian Collaborative Cerebral Palsy Research Group
INVESTIGATORS
JOURNAL
VOLUME: 129
ISSUE: 2
TITLE: Pediatrics
ISOABBREVIATION: Pediatrics
YEAR: 2012
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: Pediatrics
COUNTRY: United States
ISSNLINKING: 0031-4005
NLMUNIQUEID: 0376422
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Apolipoproteins E genetics
Australia genetics
Case-Control Studies genetics
Cerebral Palsy genetics
Child genetics
Child, Preschool genetics
Cohort Studies genetics
DNA Mutational Analysis genetics
Female genetics
Genetic Association Studies genetics
Genetic Predisposition to Disease genetics
Haplotypes genetics
Heterozygote Detection genetics
Humans genetics
Infant, Newborn genetics
Mannose-Binding Lectin genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
Pregnancy genetics
Prothrombin genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Apolipoproteins E
0 Mannose-Binding Lectin
9001-26-7 Prothrombin
OTHER ID's