For many years, research on the etiology of preterm birth has primarily focused on demographic, social-behavioral, and environmental risk factors. Until recently, the roles of genetic susceptibility and gene-environment interactions in preterm birth have largely been unexplored. The use of molecular genetic epidemiology represents a promising approach to understanding the role and biological mechanisms of the genetic and environmental factors involved in preterm birth and their interactions in the pathogenesis of preterm birth. New tools for high-throughput genotyping, coupled with very-large-scale population-based studies that use sensitive biomarkers, comprehensive exposure assessment, and advanced biotechnology and analytical strategies, are needed to unravel the complex multiple gene-environment interactions responsible for preterm birth. Understanding these factors and their interactions could lead to major improvements in the diagnosis, prevention, and treatment of preterm birth.

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