Genetic epidemiologic studies of preterm birth: guidelines for research

Craig E. Pennell, Bo Jacobsson, Scott M. Williams, Rebecca M. Buus, Louis J. Muglia, Siobhan M. Dolan, Nils Halvdan Morken, Hilmi Ozcelik, Stephen J. Lye, Caroline Relton

Research output: Contribution to journalReview articlepeer-review

126 Scopus citations


Over the last decade, it has become increasingly apparent that the cause of preterm birth is multifactorial, involving both genetic and environmental factors. With the development of new technologies capable of probing the genome, exciting possibilities now present themselves to gain new insight into the mechanisms leading to preterm birth. This review aims to develop research guidelines for the conduct of genetic epidemiology studies of preterm birth with the expectation that this will ultimately facilitate the comparison of data sets between study cohorts, both nationally and internationally. Specifically, the 4 areas addressed in this review includes: (1) phenotypic criteria, (2) study design, (3) considerations in the selection of control populations, and (4) candidate gene selection. This article is the product of discussions initiated by the authors at the 3rd International Workshop on Biomarkers and Preterm Birth held at the University of California, Los Angeles, Los Angeles, CA, in March 2005.

Original languageEnglish (US)
Pages (from-to)107-118
Number of pages12
JournalAmerican journal of obstetrics and gynecology
Issue number2
StatePublished - Feb 2007


  • candidate gene
  • control population
  • genetic association study
  • genotype
  • phenotype
  • preterm premature rupture of membranes
  • single nucleotide polymorphism
  • study design

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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