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Search for anorexia in genes lands on chromosome 12

A genome-wide look at DNA from people with and without anorexia identifies the first genetic locus for the disease—and suggests a link to metabolism.

New research identifies the first genetic locus for anorexia nervosa and reveals that there may also be metabolic underpinnings to this potentially deadly illness.

The study, published in the American Journal of Psychiatry, is the most powerful genetic study of anorexia nervosa conducted to date. It includes 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,” says lead investigator Cynthia Bulik, founding director of the University of North Carolina at Chapel Hill’s Center of Excellence for Eating Disorders and a professor at Karolinska Institutet in Stockholm, Sweden.

“We also calculated genetic correlations—the extent to which various traits and disorders are caused by the same genes,” says 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 says.

“Working with large data sets allows us to make discoveries that would never be possible in smaller studies,” says Laramie Duncan of Stanford University, who served as lead analyst on the project.

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.

Institutions 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.

Funding sources for the work include 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.

Source: UNC-Chapel Hill

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