Open Access Highly Accessed Research article

Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study

Jinsil Kim1, Kara J Stirling2, Margaret E Cooper3, Mario Ascoli4, Allison M Momany2, Erin L McDonald2, Kelli K Ryckman2, Lindsey Rhea2, Kendra L Schaa2, Viviana Cosentino5, Enrique Gadow5, Cesar Saleme6, Min Shi7, Mikko Hallman8, Jevon Plunkett9, Kari A Teramo10, Louis J Muglia11, Bjarke Feenstra12, Frank Geller12, Heather A Boyd12, Mads Melbye12, Mary L Marazita133, John M Dagle2 and Jeffrey C Murray12*

Author Affiliations

1 Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA

2 Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA

3 Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA

4 Department of Pharmacology, University of Iowa, Iowa City, IA 52242, USA

5 Centro de Educación Médica e Inverstigaciones Clínicas, Buenos Aires 1431, Argentina

6 Instituto de Maternidad y Ginecología Nuestra Señora de las Mercedes, San Miguel de Tucumán 4000, Argentina

7 Biostatistics Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA

8 Institute of Clinical Medicine, Department of Pediatrics, University of Oulu, Oulu 90014, Finland

9 Human and Statistical Genetics Program, Washington University, St. Louis, MO 63110, USA

10 Department of Obstetrics and Gynecology, University of Helsinki, Helsinki 00290, Finland

11 Perinatal Institute, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA

12 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, S 2300, Denmark

13 Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15219, USA

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BMC Medical Genetics 2013, 14:77  doi:10.1186/1471-2350-14-77

Published: 26 July 2013

Additional files

Additional file 1: Table S1:

List of rare missense variants in exon 3 of OXTR catalogued in public databases (1000GP, NHLBI_ESP).

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Additional file 2: Table S2:

Results of regression analyses of OXTR coding variants predicting gestational age (GA) in Danish case and control mothers.

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Additional file 3: Table S3:

Alignment of the amino acid sequence of OXTR from different species at mutant residues of all coding variants identified in the present study.

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