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Updated: Jun 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity
Elena Cellini1, Giovanni Castellini, Valdo Ricca
1Department of Neurological and Psychiatric Sciences, Neurology Unit, University of Florence, Florence, Italy.
Objective:
Glucocorticoids (GCs) are involved in the control of eating behaviors, and it has been proposed that GCs and their receptors (GR) could play a significant role in the pathophysiology of eating disorders (EDs) and obesity. We studied whether genetic variants, such as N363S (rs56149945), exon 9-β (rs6198), ER22/23EK (rs6189-6190), and the intronic BclI restriction site (rs41423247) polymorphisms in the GR gene, could be considered as risk factors for the development of EDs and obesity in Italian patients.
Methods:
We investigated the distribution of these single nucleotide polymorphisms in 572 Italian patients: 118 patients with anorexia nervosa, 108 patients with bulimia nervosa, 62 patient with binge eating disorder, 177 obese non-binge eating disorder patients, and 107 unrelated, normal, age-matched controls. In addition, we analyzed their possible effects on body mass index and in relation to different psychopathological features.
Results:
A significant association between the single nucleotide polymorphism rs56149945 (N363S) and a higher body mass index was identified, even after adjusting for age, sex, and diagnosis, independently of the eating psychopathology. Moreover, the rs6198 polymorphism was associated to binge eating symptoms, whereas no significant association between the different GR polymorphisms and the other ED diagnoses was observed.
Conclusion:
Our results suggest the possible role of the GC system in the genetics of eating psychopathology, weight control, and energy balance in ED and obese patients.
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