Project description:As part of the Genetic Consortium for Anorexia Nervosa (GCAN) and Wellcome Trust Case Control Consortium 3 (WTCCC3), we have amassed the largest anorexia nervosa (AN) sample in the world (~4,000). Following the WTCCC3 GWAS, we secured funding from the Klarman Family Foundation to extend the genetic analyses to variants on the exome chip (CoreExome array). This pre-lim relates to carrying out genotyping on the CoreExome array on up to a maximum of 580 new samples.

| EGAS00001000913 | EGA

VNN1 : a new biomarker of anorexia nervosa

Project description:Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest genome-wide association study meta-analysis on AN identified independent loci-conferring risk to the disorder, the molecular mechanisms underlying the genetic basis of AN remains to be elucidated. To explore AN, we ran a transcriptome profiling in peripheral blood mononuclear cells of 15 AN subjects and 15 healthy controls. We validated our mean results in a mouse model of chronic food restriction mimicking several aspects of AN. Through this exploratory study we identified 673 significantly differentially expressed genes in AN. Among these genes, we identified the Vanin-1 (Vnn1) gene that appears to play a major role in the regulation of multiple metabolic pathways. We confirmed an underexpression of Vnn1, especially in the liver, in a mouse model of chronic food restriction. These results indicate that quantitative food restriction affects Vnn1 expression, suggesting that this gene may contribute to the anorexic phenotype in the chronic food restriction mouse model as well as in patients affected by AN. We believe that this report highlights promising candidate genes and gene pathways for AN and reveals Vnn1 as a biomarker that may be used as molecular targets to predict and/or to understand AN.

2023-10-31 | GSE245978 | GEO

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