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Ann Med. 2008;40(3):167-95. doi: 10.1080/07853890701806181.

Genetic contributions to preterm birth: implications from epidemiological and genetic association studies.

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  • 1Department of Pediatrics, Center for Preterm Birth Research, and Human and Statistical Genetics Program, Washington University School of Medicine, St. Louis, Missouri, USA.


Infants born before term (<37 weeks) have an increased risk of neonatal mortality as well as other health problems. The increasing rate of preterm birth in recent decades, despite improvements in health care, creates an impetus to better understand and prevent this disorder. Preterm birth likely depends on a number of interacting factors, including genetic, epigenetic, and environmental risk factors. Genetic studies may identify markers, which more accurately predict preterm birth than currently known risk factors, or novel proteins and/or pathways involved in the disorder. This review summarizes epidemiological and genetic studies to date, emphasizing the complexity of genetic influences on birth timing. While several candidate genes have been reportedly associated with the disorder, inconsistency across studies has been problematic. More systematic and unbiased genetic approaches are needed for future studies to examine the genetic etiology of human birth timing thoroughly.

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