title: Genetic and environmental risk factors for sagittal craniosynostosis.
abstract: The authors investigated whether genetic and environmental factors influence risk for sagittal craniosynostosis. Cases were ascertained from craniofacial clinics in the Baltimore-Washington metropolitan region. Controls were recruited from the Johns Hopkins newborn nursery and a large pediatric practice in Baltimore County. Forty-two probands with isolated, nonsyndromic sagittal craniosynostosis born in the mid-Atlantic region were included in this analysis. Controls are infants born in Maryland without any known birth defects (n = 182). Odds ratios (OR) and corresponding 95% confidence intervals (CI) were calculated. Cases were genotyped at several loci implicated in malformation syndromes including craniosynostosis. There were no elevated risks for craniosynostosis related to maternal or paternal smoking or maternal vitamin usage. Case mothers consumed less alcohol (OR = 0.38, 95% CI = 0.17-0.85) and had less education than control mothers ( < 0.001). All cases that were sequenced were negative for mutations at the following genes: exon IIIa 755C->G, (exons IIIa and IIIc,), exon IIIa, and exon 1. These findings suggest that whereas TWIST and the genes are important for syndromic craniosynostosis, they are unlikely to be involved in isolated sagittal craniosynostosis. Parental education and alcohol consumption were associated with sagittal craniosynostosis in this study.
authors.affiliation: Johns Hopkins Bloomberg School of Hygiene and Public Health, Johns Hopkins School of Medicine, Baltimore, MD, USA. jzeiger@jhmi.edu
authors.forename: Joanna S
authors.initials: JS
authors.lastname: Zeiger
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.forename: Jacqueline B
authors.initials: JB
authors.lastname: Hetmanski
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.forename: Alan F
authors.initials: AF
authors.lastname: Scott
authors.forename: Laura
authors.initials: L
authors.lastname: Kasch
authors.forename: Gerald
authors.initials: G
authors.lastname: Raymond
authors.forename: Ethylin W
authors.initials: EW
authors.lastname: Jabs
authors.forename: Craig
authors.initials: C
authors.lastname: VanderKolk
mesh_terms: D000428:Alcohol Drinking / Q000009:adverse effects; D016022:Case-Control Studies; D016001:Confidence Intervals; D003398:Craniosynostoses / Q000209:etiology / Q000235:genetics*; D004522:Educational Status; D004777:Environment; D005091:Exons / Q000235:genetics; D005220:Fathers / Q000193:education; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics; D005865:Gestational Age; D018257:Helix-Loop-Helix Motifs / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D016015:Logistic Models; D008297:Male; D009035:Mothers / Q000193:education; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins; D016017:Odds Ratio; D010294:Parietal Bone / Q000002:abnormalities*; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D014157:Transcription Factors / Q000235:genetics; D051879:Twist-Related Protein 1; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D009687:Nuclear Proteins; D017468:Receptors, Fibroblast Growth Factor; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1; D014815:Vitamins; D005346:Fibroblast Growth Factors; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3