Genomics identifies possible biomarker genes for preterm birth

Complications of preterm birth—a live birth occurring before 37 weeks of gestation—are a leading cause of death and health problems in children. The genetic and environmental factors that underlie preterm birth are poorly understood.

A team led by Leroy Hood of the Institute for Systems Biology and John E. Niederhuber of the Inova Translational Medicine Institute now reports a genomic study that identifies potential biomarkers for preterm birth (Proc. Natl. Acad. Sci. U.S.A. 2019, DOI: 10.1073/pnas.1716314116).

The researchers performed whole-genome DNA sequencing, RNA sequencing, and DNA methylation analysis on 791 family trios (mother, father, and child), including 270 preterm births and 521 control families. When they treated all the preterm births as a single group, they couldn’t identify any significant genetic differences. But when they divided the preterm birth group into different clinical subgroups, they were able to identify significant genomic variations.

Most significantly, they identified 72 candidate biomarker genes for very early preterm birth—occurring before 28 weeks of gestation. Those genes are ­involved in growth signaling and inflammation- and immunity-related pathways.

Mikko Hallman, a preterm-birth expert at the University of Oulu, says, “This approach likely opens new avenues towards accurate diagnosis of the pregnancies at risk and will eventually lead to the discovery of potential new approaches for prevention.”

There’s still work to be done. “Because there are such a variety of clinical risk factors and alterations at the level of the placenta, it will take larger study populations to have enough numbers in every possible subgroup,” Niederhuber says.