Open Access Research article

Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

Jevon Plunkett12, Scott Doniger3, Thomas Morgan14, Ritva Haataja5, Mikko Hallman5, Hilkka Puttonen6, Ramkumar Menon78, Edward Kuczynski9, Errol Norwitz9, Victoria Snegovskikh9, Aarno Palotie10111213, Leena Peltonen101112, Vineta Fellman1415, Emily A DeFranco16, Bimal P Chaudhari17, John Oates18, Olivier Boutaud18, Tracy L McGregor1, Jude J McElroy1, Kari Teramo6, Ingrid Borecki19, Justin C Fay20 and Louis J Muglia121*

Author Affiliations

1 Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA

2 Human and Statistic Genetics Program, Washington University School of Medicine, St. Louis, MO 63110, USA

3 Computational Biology Program, Washington University School of Medicine, St. Louis, MO 63108, USA

4 Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, TN 37232, USA

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

6 Departments of Obstetrics and Gynecology, University Central Hospital, Helsinki 00290, Finland

7 The Perinatal Research Center, Nashville, TN 37203

8 Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, 30322, USA

9 Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06520, USA

10 Biomedicum Helsinki Research Program in Molecular Medicine, University of Helsinki, Helsinki 00290, Finland

11 The Finnish Genome Center, University of Helsinki, Helsinki 00290, Finland

12 The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA

13 Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK

14 Department of Pediatrics, Lund University, Lund 22185, Sweden

15 Department of Pediatrics, University of Helsinki, Helsinki 00290, Finland

16 Department of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA

17 Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA

18 Division of Clinical Pharmacology, Vanderbilt University School of Medicine, Vanderbilt University, Nashville, TN 37232, USA

19 Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO 63108, USA

20 Department of Genetics and Center for Genome Sciences, Washington University School of Medicine, St. Louis, MO 63108, USA

21 Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, and Vanderbilt Kennedy Center for Human Development, Vanderbilt University, Nashville, TN 37232, USA

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BMC Medical Genomics 2010, 3:62  doi:10.1186/1755-8794-3-62

Published: 24 December 2010

Additional files

Additional file 1:

SNPs in the PLA2G4C gene region tested in all cohorts. Table S1 - SNPs examined in our association study.

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Additional file 2:

Power analysis for populations analyzed in this study for association with preterm birth risk. Table S2 - Power analyses for the populations tested for preterm birth risk.

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Additional file 3:

Case-control association results for 2, 3 and 4 SNP haplotypes in the PLA2G4C gene region tested across 3 independent US populations. Table S3 - Case-control association results for 2, 3 and 4 SNP haplotypes in the PLA2G4C gene region.

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Additional file 4:

Frequency of 2, 3, and 4 SNP haplotypes across each population studied. Table S4 Specific frequency information for the haplotypes in each population.

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Additional file 5:

Linkage disequilibrium among SNPs tested in PLA2G4C. Figure S1 - Panel A: US Hispanics. Panel B: US Whites. Panel C: US Blacks. Panel D: HapMap MEX reference population. Panel E: HapMap CEU reference population. Panel F: HapMap YRI reference population.

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Additional file 6:

Association results for associated SNPs (p ≤ 0.01) in the PLA2G4C gene region for the quantitative phenotypes of PGE, PGI, and TXB2 metabolite levels examined in healthy individuals (n = 44). Table S5 Association results for those SNPs that were significantly associated (p ≤ 0.01) in the PLA2G4C gene region with preterm birth examining the quantitative phenotypes of prostaglandin metabolite levels examined in healthy individuals.

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