Abstract
Up until now, no study has looked specifically at epigenomic landscapes throughout twin samples, discordant for Anorexia nervosa (AN). Our goal was to find evidence to confirm the hypothesis that epigenetic variations play a key role in the aetiology of AN. In this study, we quantified genome-wide patterns of DNA methylation using the Infinium Human DNA Methylation EPIC BeadChip array (“850 K”) in DNA samples isolated from whole blood collected from a group of 7 monozygotic twin pairs discordant for AN. Results were then validated performing a genome-wide DNA methylation profiling using DNA extracted from whole blood of a group of non-family-related AN patients and a group of healthy controls. Our first analysis using the twin sample revealed 9 CpGs associated to a gene. The validation analysis showed two statistically significant CpGs with the rank regression method related to two genes associated to metabolic traits, PPP2R2C and CHST1. When doing beta regression, 6 of them showed statistically significant differences, including 3 CpGs associated to genes JAM3, UBAP2L and SYNJ2. Finally, the overall pattern of results shows genetic links to phenotypes which the literature has constantly related to AN, including metabolic and psychological traits. The genes PPP2R2C and CHST1 have both been linked to the metabolic traits type 2 diabetes through GWAS studies. The genes UBAP2L and SYNJ2 have been related to other psychiatric comorbidity.
Highlights
Eating disorders (EDs) are one of the major psychiatric conditions, being anorexia nervosa (AN) one of the illness with the highest mortality among these maladies [1]
An exploratory analysis was performed by running a principal
Groleau and Steiger, associated methylation changes at the DRD2 promoter region, and the promoter gen of the BDNF with comorbid psychopathology in patients with ED [20]. They described that methylation levels of the glucocorticoid receptor gene (NR3C1) promoter are higher in women with Bulimia Nervosa (BN) and comorbid borderline personality disorder than in women with BN and no comorbidity [21]
Summary
Eating disorders (EDs) are one of the major psychiatric conditions, being anorexia nervosa (AN) one of the illness with the highest mortality among these maladies [1]. Mental disorders are known to be complex conditions in which many environmental and genetic risk factors interact. The role of genetics factors was initially proven via family, twin and adoption investigations [2]. By these means, moderate-to-high heritability estimates have been demonstrated in mental disorders [3], up to 64% in schizophrenia, over 70% in bipolar disorder [4], or a range of 22% to over 62% in ED [5], among others. Numerous environmental factors have been epidemiologically associated with psychiatric maladies, comprising psychosocial adversities, parent’s mental health, violence, stress or the intrauterine exposure to tobacco smoke and alcohol, among others [7]
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