Journal article
Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads
BMC medical genetics, Vol.12(1), pp.174-174
12/30/2011
DOI: 10.1186/1471-2350-12-174
PMCID: PMC3260094
PMID: 22208904
Abstract
Background: Spontaneous preterm delivery (PTD) has a multifactorial etiology with evidence of a genetic contribution to its pathogenesis. A number of candidate gene case-control studies have been performed on spontaneous PTD, but the results have been inconsistent, and do not fully assess the role of how two genotypes can impact outcome. To elucidate this latter point we re-analyzed data from a previously published case-control candidate gene study, using a case-parent triad design and a hybrid design combining case-parent triads and control-mother dyads. These methods offer a robust approach to genetic association studies for PTD compared to traditional case-control designs.Methods: The study participants were obtained from the Norwegian Mother and Child Cohort Study (MoBa). A total of 196 case triads and 211 control dyads were selected for the analysis. A case-parent triad design as well as a hybrid design was used to analyze 1,326 SNPs from 159 candidate genes. We compared our results to those from a previous case-control study on the same samples. Haplotypes were analyzed using a sliding window of three SNPs and a pathway analysis was performed to gain biological insight into the pathophysiology of preterm delivery.Results: The most consistent significant fetal gene across all analyses was COL5A2. The functionally similar COL5A1 was significant when combining fetal and maternal genotypes. PON1 was significant with analytical approaches for single locus association of fetal genes alone, but was possibly confounded by maternal effects. Focal adhesion (hsa04510), Cell Communication (hsa01430) and ECM receptor interaction (hsa04512) were the most constant significant pathways.Conclusion: This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous PTD. In addition, the pathway analysis implied interactions of genes affecting cell communication and extracellular matrix. © 2011 Myking et al; licensee BioMed Central Ltd.
Details
- Title: Subtitle
- Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads
- Creators
- Solveig Myking - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway Department of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska University Hospital, Göteborg, Sweden Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA Department of Pediatrics, University of Iowa, Iowa City, IA, USARonny Myhre - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway Department of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska University Hospital, Göteborg, Sweden Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA Department of Pediatrics, University of Iowa, Iowa City, IA, USAHåkon K Gjessing - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway Department of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska University Hospital, Göteborg, Sweden Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA Department of Pediatrics, University of Iowa, Iowa City, IA, USANils-Halvdan Morken - Haukeland University HospitalVerena Sengpiel - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway Department of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska University Hospital, Göteborg, Sweden Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA Department of Pediatrics, University of Iowa, Iowa City, IA, USAScott M Williams - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway Department of Obstetrics and Gynecology, Institute of Clinical Science, Sahlgrenska University Hospital, Göteborg, Sweden Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA Department of Pediatrics, University of Iowa, Iowa City, IA, USAKelli K Ryckman - University of Iowa, EpidemiologyPer Magnus - Norwegian Institute of Public HealthBo Jacobsson - Sahlgrenska University Hospital
- Resource Type
- Journal article
- Publication Details
- BMC medical genetics, Vol.12(1), pp.174-174
- DOI
- 10.1186/1471-2350-12-174
- PMID
- 22208904
- PMCID
- PMC3260094
- NLM abbreviation
- BMC Med Genet
- ISSN
- 1471-2350
- eISSN
- 1471-2350
- Publisher
- BioMed Central
- Language
- English
- Date published
- 12/30/2011
- Academic Unit
- Stead Family Department of Pediatrics; Epidemiology
- Record Identifier
- 9984214950502771
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