Journal article
Candidate gene linkage approach to Identify DNA variants that predispose to preterm birth
Pediatric research, Vol.73(2), pp.135-141
02/2013
DOI: 10.1038/pr.2012.166
PMCID: PMC3740714
PMID: 23168575
Abstract
Background: The aim of this study was to identify genetic variants contributing to preterm birth (PTB) using a linkage candidate gene approach.
Methods: We studied 99 single-nucleotide polymorphisms (SNPs) for 33 genes in 257 families with PTBs segregating. Nonparametric and parametric analyses were used. Premature infants and mothers of premature infants were defined as affected cases in independent analyses.
Results: Analyses with the infant as the case identified two genes with evidence of linkage: CRHR1 (P = 0.0012) and CYP2E1 (P = 0.0011). Analyses with the mother as the case identified four genes with evidence of linkage: ENPP1 (P = 0.003), IGFBP3 (P = 0.006), DHCR7 (P = 0.009), and TRAF2 (P = 0.01). DNA sequence analysis of the coding exons and splice sites for CRHR1 and TRAF2 identified no new likely etiologic variants.
Conclusion: These findings suggest the involvement of six genes acting through the infant and/or the mother in the etiology of PTB.
Details
- Title: Subtitle
- Candidate gene linkage approach to Identify DNA variants that predispose to preterm birth
- Creators
- Elise N.A Bream - Department of Pediatrics, University of Iowa, Iowa City, IACara R Leppellere - Department of Pediatrics, University of Iowa, Iowa City, IAMargaret E Cooper - Department of Oral Biology and Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PAJohn M Dagle - Department of Pediatrics, University of Iowa, Iowa City, IADavid C Merrill - Department of Obstetrics and Gynecology, Wake Forest University School of Medicine, Winston-Salem, NCKaare Christensen - Department of Epidemiology, University of Southern Denmark, Odense, Fyn, DenmarkHyagriv N Simhan - Department of Obstetrics and Gynecology, University of Pittsburgh, Pittsburgh, PAChin-To Fong - Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NYMikko Hallman - Department of Pediatrics, University of Oulu, Oulu, FinlandLouis J Muglia - Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TNMary L Marazita - Department of Oral Biology and Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PAJeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, IA
- Resource Type
- Journal article
- Publication Details
- Pediatric research, Vol.73(2), pp.135-141
- DOI
- 10.1038/pr.2012.166
- PMID
- 23168575
- PMCID
- PMC3740714
- NLM abbreviation
- Pediatr Res
- ISSN
- 0031-3998
- eISSN
- 1530-0447
- Language
- English
- Date published
- 02/2013
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Biochemistry and Molecular Biology; Dental Research; Neonatology
- Record Identifier
- 9984025275002771
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