For the first time, researchers have identified a location for anorexia nervosa within the genome. The ground-breaking study was carried out by the Psychiatric Genetics Consortium Eating Disorders Working Group at UNC Chapel Hill Medical School in an effort to identify a genetic basis for this illness. In recent years, researchers have developed an increased understanding of the biological and brain-basis for the disease. By studying neural pathways within the brain of an individual with anorexia nervosa, researchers identified a link between food and panic sensations, problem-solving deficiencies and an increase in negative intrusive thoughts. This information helped to best inform practices in regard to communication with a loved one struggling with an eating disorder. Research on environmental stressors such as social media and fad diets shed light on how symptoms may be triggered in individuals with a genetic predisposition for the disease. Despite these advances, there had not yet been any genetic markers identified for the disease. No one location had been identified within the genome as a region that underpins anorexia, genetically.
The 220-person research team was led by Cynthia Bulik, Ph.D. The team conducted what is called a “genome-wide association” study. In genetics, the word “association” references a situation in which genetic variations are found in a higher frequency among people with a certain disease. The study revealed that anorexia has psychiatric and, surprisingly to the research team, metabolic roots. This secondary finding was quite surprising—at no point in history was there a correlation between anorexia and metabolic processes. The genetic locus identified for Anorexia Nervosa was on chromosome 12, a region reported as a type 1 diabetes and autoimmune disorder locus. This finding has encouraged the group to look more deeply at how metabolic factors (body composition and insulin-glucose metabolism) may increase one’s risk for developing anorexia nervosa.
How will these findings inform our practice? That remains to be seen. What we do know is that we are one step closer to understanding the genetic origins of anorexia nervosa. Reconceptualization of this disease as one with both psychiatric and metabolic roots may assist in the development of proactive interventions down the line.