Genetics & Genomics

December 18, 2024

VUMC part of multisite team investigating genetic markers of anorexia nervosa

With funding from the newly established Sarah Kyle Anorexia Nervosa Research Foundation, the researchers hope to identify biomarkers that will point to novel targets for prevention and treatment.

A research consortium including investigators at Vanderbilt University Medical Center has been awarded the first grant from the newly established Sarah Kyle Anorexia Nervosa Research Foundation (SKANRF). 

The researchers will examine genetic markers across the genome in patients with anorexia nervosa to identify sites associated with the disease. 

Jennifer (Piper) Below, PhD (photo by Erin O. Smith)

“We are honored that SKANRF selected our project from a highly competitive group of proposals,” said Jennifer (Piper) Below, PhD, professor of Medicine in the Division of Genetic Medicine at VUMC. “We hope to identify novel biomarkers that will improve our understanding of how anorexia nervosa develops and ultimately result in novel targets for prevention and treatment approaches.” 

Melissa Munn-Chernoff, PhD, a behavioral geneticist and psychiatric epidemiologist at Texas Tech University is the lead investigator for the project, with co-investigators Kari North, PhD, a genetic epidemiologist at the University of North Carolina at Chapel Hill, and Below at VUMC. 

Anorexia nervosa is a psychiatric disease in which patients restrict their food intake. About 28.8 million people in the United States — 9% of the population — will experience an eating disorder such as anorexia nervosa in their lifetime, according to a report from the Strategic Training Initiative for the Prevention of Eating Disorders. 

“Other than opioid use disorder, anorexia nervosa has the highest mortality rate among all mental health conditions,” Munn-Chernoff noted in the SKANRF announcement of the new funding, highlighting the urgent need for new approaches to treatment and prevention. 

Both genetic and environmental factors contribute to anorexia nervosa, but specific genetic mechanisms involved in the disease are unclear. 

With the SKANRF funding, the researchers will focus on DNA methylation — an “epigenetic” modification of DNA that regulates gene expression without altering the DNA sequence itself — in patients with anorexia nervosa compared to healthy controls. 

“DNA methylation and other epigenetic modifications are a mechanism for environmental factors to modify genetic susceptibility to a variety of diseases,” said Below, who holds the Robert A. Goodwin Jr., MD Directorship in Medicine. 

Previous studies have pointed to differing patterns of DNA methylation in patients with anorexia nervosa, but the studies have been limited by small sample sizes and inclusion of only females who are primarily non-Hispanic and white. 

In the current study, the research team will draw on the resources of BioVU, VUMC’s DNA biobank linked to de-identified electronic health records, to curate a dataset of anorexia nervosa cases of a diverse background and matched controls. They will perform whole-genome methylation and epigenomic analyses to identify sites of DNA methylation associated with anorexia nervosa. 

This study will lay the groundwork for a study with a larger number of samples to establish the clinical significance of altered DNA methylation in anorexia nervosa. 

“These analyses will build our understanding of the biological mechanisms and causal pathways leading to anorexia nervosa,” Below said. 

SKANRF was founded by David Kyle, PhD, and Nancy Andrew-Kyle with a mission “to identify and support novel high quality medical research that provides a pathway to the primary prevention of anorexia nervosa.”