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Synopsis of Preterm Birth Genetic Association Studies: The Preterm Birth Genetics Knowledge Base (PTBGene)

Dolan S.M.a, o · Hollegaard M.V.b, o · Merialdi M.c, o · Betran A.P.c, o · Allen T.d · Abelow C.a · Nace J.e, o · Lin B.K.f · Khoury M.J.g · Ioannidis J.P.A.h, i · Bagade S.j · Zheng X.k · Dubin R.A.k · Bertram L.j, l · Velez Edwards D.R.m, o · Menon R.c, e, n, o
aDepartment of Obstetrics and Gynecology and Women’s Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, N.Y., USA; bSection of Neonatal Screening and Hormones, Statens Serum Institute, Copenhagen, Denmark; cDepartment of Reproductive Health and Research and dDepartment of Knowledge, Management and Sharing, World Health Organization, Geneva, Switzerland; eThe Perinatal Research Center, Nashville, Tenn., fOffice of the Medical Director, March of Dimes, White Plains, N.Y., gNational Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Ga., USA; hDepartment of Hygiene and Epidemiology, University of Ioannina School of Medicine, and Biomedical Research Institute, Foundation for Research and Technology – Hellas, Ioannina, Greece; iCenter for Genetic Epidemiology and Modeling, Tufts Medical Center, and Department of Medicine, Tufts University School of Medicine, Boston, Mass., jGenetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease (MIND), Department of Neurology, Massachusetts General Hospital, Charlestown, Mass., kBioinformatics Shared Resource (BISR), Albert Einstein College of Medicine, Bronx, N.Y., USA; lNeuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany; mVanderbilt Epidemiology Center, Institute of Medicine and Public Health, Department of Obstetrics and Gynecology, Vanderbilt University, Nashville, Tenn., nDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Ga., oPREBIC Genetic Working Group 2007, USA Public Health Genomics 2010;13:514–523 (DOI:10.1159/000294202)


Aim: Our goal wasto produce a field synopsis of genetic associations with preterm birth and to set up a publicly available online database summarizing the data. Methods: We performed a systematic review and meta-analyses to identify genetic associations with preterm birth. We have set up a publicly available online database of genetic association data on preterm birth called PTBGene ( and report on a structured synopsis thereof as of December 1, 2008. Results: Data on 189 polymorphisms in 84 genes have been included and 36 meta-analyses have been performed. Five gene variants (4 in maternal DNA, one in newborn DNA) have shown nominally significant associations, but all have weak epidemiological credibility. Conclusion: After publishing this field synopsis, the PTBGene database will be regularly updated to keep track of the evolving evidence base of genetic factors in preterm birth with the goal of promoting knowledge sharing and multicenter collaboration among preterm birth research groups.


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