Mapping Genetic Susceptibility to Spontaneous Preterm Birth Using Family-Based Linkage Analysis and Whole Exome Sequencing

In the U.S., more than 9% of babies are born preterm. Preterm births account for 70% of deaths among newborns, and billions of dollars in direct health care costs. Despite the magnitude of the problem, the causes for preterm birth are not well understood.

Consistent with existing evidence for a genetic contribution to spontaneous preterm birth (SPTB), a research team led by Erin Clark, M.D., Associate Professor of Obstetrics and Gynecology, has identified multi-generational pedigrees with increased risk for the condition. Using the Utah Population Database (UPDB), Dr. Clark and colleagues enrolled subjects from 74 families that contain at least 10 living women who had preterm birth before 34 weeks gestation (more than 6 weeks early).

In an effort to understand the genetic causes of SPTB, the team has created a registry of rigorously phenotyped women with SPTB linked to DNA specimens. Currently 170 women are enrolled in the study. The largest pedigree has 64 affected women, 8 of whom are enrolled in the study. Forty women from the most promising pedigrees underwent genome-wide high-density SNP genotyping and whole genome sequencing.  Data analysis is currently underway.

By analyzing women from large families with unusually high rates of SPTB, the aim is to identify both common and rare genetic causes for the condition. These results may ultimately lead to a substantial public health impact through personalized diagnostics and new prevention and therapeutic strategies.


Spontaneous Preterm Birth (SPTB)

Chen-Han Wu, Graduate Teaching Assistant

Chen-Han Wu, Graduate Teaching Assistant