By Amy Denney
Genetic information collected from umbilical cords may reveal whether babies are at risk of developing health issues like diabetes, liver disease, and stroke, according to research presented at Digestive Disease Week (DDW).
Using a new genetic tool, researchers analyzed chemical patterns in critical parts of infant DNA, called imprint control regions, which turn genes on or off. When the genes are switched on, the effects can last beyond fetal development into later life.
“What’s exciting is we now have a tool that can scan the entire genome for these imprint regions, something that wasn’t possible before. This could help us find earlier warning signs and not just for metabolic diseases,” lead author Dr. Ashley Jowell, a resident in internal medicine at Duke University, said at a DDW media briefing.
The study analyzed umbilical cord blood from 38 children enrolled in the Newborn Epigenetics Study, a long-term birth cohort study based in North Carolina. DNA changes in imprint control centers were assessed using health data collected when the children were 7 to 12 years old.
Health data included body mass index, liver fat, triglyceride levels, blood pressure, waist-to-hip ratio, and liver enzymes. Increased levels of liver enzymes can indicate liver dysfunction. Multiple regions of altered DNA were associated with metabolic dysfunction later in life.
Specifically, changes in a gene called TNS3 were linked to liver fat, higher liver enzymes, and waist-to-hip ratio. Other changes to genes called GNAS and CSMD1 were tied to blood pressure, waist-to-hip ratio, and higher liver enzymes.
Sex differences in gene changes were also noted, which Jowell said could explain why metabolic diseases show up differently in boys and girls.
The epigenetic signals are established during embryonic development and could be influenced by maternal health or lifestyle factors like nutrition, according to co-author Dr. Cynthia Moylan, associate professor of medicine at Duke University Health System.
Epigenetics refers to the study of changes in how genes are used (expressed) that do not involve the underlying DNA but rather reflect environmental factors.
“If validated in larger studies, this could open the door to new screening tools and early interventions for at-risk children,” she said in a press release.
A follow-up study is underway, as the findings don’t establish a cause-and-effect relationship between genetic changes and disease. Jowell said if the DNA markers are confirmed, it could help doctors and families take action on at-risk health issues before symptoms emerge.
However, she noted that just because a baby is born with the markers doesn’t mean disease is inevitable. Rather, it could help pediatricians know who is prone to specific diseases.
“Imagine being able to screen for metabolic risk the way we screen for hearing or vision,” Jowell said. “That’s the kind of future this research points towards.”
