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Public Health Genomics. 2010;13(7-8):514-23. doi: 10.1159/000294202. Epub 2010 May 20.

Synopsis of preterm birth genetic association studies: the preterm birth genetics knowledge base (PTBGene).

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Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY 10461, USA.



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.


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.


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.


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.

[Indexed for MEDLINE]

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