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Published on: November 20, 2015
Genetic influences on preterm birth
Emily DeFranco1, Kari Teramo, Louis Muglia
1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Center for Preterm Birth Research, Washington University School of Medicine, St. Louis, Missouri 63110, USA, and University Central Hospital, Helsinki, Finland.
Insights
Genetic factors significantly contribute to preterm birth, a major public health issue. Research using genetic science approaches aims to understand its causes and racial disparities.
Area of Science:
- Genetics
- Public Health
- Reproductive Biology
Background:
- Preterm birth is a significant public health concern with adverse outcomes for mothers and infants.
- Its causes are multifactorial, including genetic, infectious, nutritional, and environmental factors.
- Animal models have limited impact on understanding human prematurity due to physiological differences.
Purpose of the Study:
- To review current research implicating genetic contributions to human preterm birth.
- To explore how genetic science approaches can identify at-risk pregnancies.
- To understand the substantial racial disparities in preterm birth.
Main Methods:
- Epidemiological studies
- Classical genetics approaches
- Genomic science and genetic polymorphism analysis
Main Results:
- Genetic factors play a substantial role in human preterm birth.
- Racial and familial predispositions to prematurity are evident.
- Specific genetic polymorphisms are associated with increased preterm birth risk.
Conclusions:
- Genetic contributions are critical to understanding human preterm birth.
- Genomic approaches offer new insights into prematurity and its disparities.
- Further research into genetic factors may lead to improved prevention and treatment strategies.
Abstract:
The high prevalence, increasing frequency, and adverse outcomes for mothers and infants of preterm birth have led to heightened awareness of this public health concern. The causes of preterm birth are likely to be multifactorial, with genetic, infectious, nutritional, behavioral, and other environmental contributors. Because of important differences in the physiology of human pregnancy and that of nonprimate mammals, extrapolation of mechanisms from animal model systems to humans has had limited impact on the understanding of human prematurity. This review summarizes work from many groups that implicates important genetic contributions to human preterm birth. These efforts use epidemiological, classical genetic, and more recently, genomic science approaches to determine pregnancies at risk for preterm delivery and to facilitate an understanding of the substantial racial disparity in preterm birth. Data revealing racial and familial predispositions to prematurity, along with genetic polymorphisms conferring increased preterm birth, promise new insights into the understanding and treatment of this critical problem.
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