University of North Carolina (UNC) researchers led the most
powerful genomic study of anorexia nervosa conducted to date to identify the
common roots anorexia shares with psychiatric and metabolic traits.
landmark study led by UNC School of Medicine researchers has identified the
first genetic locus for anorexia nervosa and has revealed that there may also
be metabolic underpinnings to this potentially deadly illness.
Dr. Lisa Lilenfeld, professor and
faculty member at the American School of Professional Psychology at Argosy
University | Northern Virginia was one of the members
of the Anorexia Nervosa Working Group of the
Psychiatric Genetics Consortium who co-authored this paper/project.
The study, which is the most
powerful genetic study of anorexia nervosa conducted to date, included
genome-wide analysis of DNA from 3,495 individuals with anorexia nervosa and
10,982 unaffected individuals.
If particular genetic variations
are significantly more frequent in people with a disorder compared to
unaffected people, the variations are said to be "associated" with
the disorder. Associated genetic variations can serve as powerful pointers to
regions of the human genome where disorder-causing problems reside, according
to the National Human Genome Research Institute.
“We identified one genome-wide
significant locus for anorexia nervosa on chromosome 12, in a region previously
shown to be associated with type 1 diabetes and autoimmune disorders,” said
lead investigator, Cynthia
Bulik, PhD, FAED, founding
director of the UNC Center
of Excellence for Eating Disorders and a professor at Karolinska
“We also calculated genetic
correlations – the extent to which various traits and disorders are caused by
the same genes," said Bulik. “Anorexia nervosa was significantly
genetically correlated with neuroticism and schizophrenia, supporting the idea
that anorexia is indeed a psychiatric illness.”
“But, unexpectedly, we also found
strong genetic correlations with various metabolic features including body
composition (BMI) and insulin-glucose metabolism. This finding encourages us to
look more deeply at how metabolic factors increase the risk for anorexia
nervosa,” Bulik said.
This study was conducted by the
Psychiatric Genetics Consortium Eating Disorders Working Group – an
international collaboration of researchers at multiple institutions worldwide.
“In the era of team science, we
brought over 220 scientists and clinicians together to achieve this large
sample size. Without this collaboration we would never have been able to
discover that anorexia has both psychiatric and metabolic roots,” said Gerome
Breen, PhD, of King’s College London.
“Working with large data sets
allows us to make discoveries that would never be possible in smaller studies,”
said Laramie Duncan, PhD, of Stanford University, who served as lead analyst on
The researchers are continuing to
increase sample sizes and see this as the beginning of genomic discovery in
anorexia nervosa. Viewing anorexia nervosa as both a psychiatric and metabolic
condition could ignite interest in developing or repurposing medications for
its treatment where currently none exist.
that participated in this research include the University of North Carolina at
Chapel Hill; Karolinska Institutet; King’s College London; Stanford University;
the Broad Institute of MIT and Harvard University; Massachusetts General
Hospital; Charité-Universtätsmedizin Berlin; the department of child and
adolescent psychiatry at the University of Duisburg, Essen; and the Wellcome
Trust Sanger Institute.
international funding sources contributed to this work including, but not
limited to the National Institute of Mental Health, the Wellcome Trust, the
Price Foundation, the Klarman Family Foundation, and the United Kingdom
National Institute for Health Research.