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Journal Articles Neuropsychopharmacology Year : 2010

Estrogen receptor 1 gene (ESR1) is associated to restrictive anorexia nervosa


Anorexia nervosa is a highly heritable young-onset psychiatric illness which aetiology remains unknown. Estrogen alpha- and beta-receptors, encoded by ESR1 and ESR2 genes, are involved in food intake regulation and eating behaviour, and may have a potential role in AN. We performed a family-based association study of 17 single-nucleotide polymorphisms (SNPs) encompassing ESR1 and ESR2 genes in a cohort of 321 French AN families. We attempted to replicate this finding in a cohort of 41 RAN families and in a population-based study of 693 young women. Using the transmission disequilibrium test, a significant over-transmission was detected between AN and ESR1 rs726281 and rs2295193. These SNPs and another among ESR1 were more specifically associated with the restrictive AN subtype (RAN) (rs726281, p=0.005, odds ratio [OR]=2.1, 95% Confidence Interval [95%CI]=1.2-3.6; rs3798577, p=0.021, OR=1.6, 95%CI=1.1-2.3; and rs2295193, p=0.007, OR=1.7, 95%CI=1.2-2.5). A large 8-SNPs haplotype of ESR1 gene was also associated with AN (p<0.0001, OR=3.1, 95%CI=1.8-5.1). Association of ESR1 SNPs and RAN was driven by paternal over-transmissions (p<0.0001, OR=3.7, 95%CI=1.9-7.3). Furthermore, we confirmed the preferential paternal over-transmission of the ESR1 rs726281 on the independent German sample of 41 RAN trios (p=0.025, OR=3, 95%CI=1.1-8.3). Lastly, rs3798577 was associated with eating disorders in a population-based sample of 693 women (p<0.01). Our findings are strongly in favour of an association between ESR1 polymorphisms and anorexia nervosa. Particularly, ESR1 gene confers a high risk of vulnerability to the restrictive subtype of anorexia nervosa, and suggests that the estrogen pathway has to be further investigated in AN.
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hal-00524128 , version 1 (07-10-2010)



Audrey Versini, Nicolas Ramoz, Yann Le Strat, Susann Friedel, Stefan Ehrlich, et al.. Estrogen receptor 1 gene (ESR1) is associated to restrictive anorexia nervosa: ESR1 and Restrictive Anorexia Nervosa. Neuropsychopharmacology, 2010, 35 (8), pp.1818-25. ⟨10.1038/npp.2010.49⟩. ⟨hal-00524128⟩
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