Association study of the estrogen receptor I gene (ESR1) in anorexia nervosa and eating disorders: no replication found. 2014

Margarita C T Slof-Op 't Landt, and Eric F van Furth, and Ingrid Meulenbelt, and Meike Bartels, and Jouke Jan Hottenga, and P Eline Slagboom, and Dorret I Boomsma
Center for Eating Disorders Ursula, Leidschendam, The Netherlands; Leiden University Medical Centre, Molecular Epidemiology Section (Department of Medical Statistics), Leiden, The Netherlands; Department of Biological Psychology, VU University, Amsterdam, The Netherlands.

OBJECTIVE The female preponderance and onset around puberty in the majority of eating disorders (EDs) suggest that sex hormones, like estrogens, may be involved in the onset of these disorders. An eight-SNP haplotype at the estrogen receptor I (ESR1) gene was found to be associated with anorexia nervosa (AN) (Versini et al., Neuropsychopharmacology, 35, 1818-1825, 2010) and three SNPs from this haplotype (rs726281, rs2295193, and rs3798577) were associated with AN and/or EDs. Our objective was to replicate these findings in an independent cohort of 520 patients with an eating disorder, of whom 244 had AN (142 restricting type) from the GenED study and 2,810 random women from the Netherlands Twin Registry. METHODS The frequencies of the eight-SNP haplotype and three ESR1 SNPs were compared between patients with an eating disorder, with AN (restricting type), with bulimia nervosa (BN), and the control women. RESULTS Neither the haplotype nor the three ESR1 SNPs were associated with EDs, BN, AN, or restricting type AN. CONCLUSIONS Despite sufficient statistical power, the associations reported by Versini et al. (Neuropsychopharmacology, 35, 1818-1825, 2010) were not replicated.

UI MeSH Term Description Entries
D005260 Female Females
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000856 Anorexia Nervosa An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994) Anorexia Nervosas,Nervosa, Anorexia,Nervosas, Anorexia
D001068 Feeding and Eating Disorders A group of disorders characterized by physiological and psychological disturbances in appetite or food intake. Appetite Disorders,Eating Disorders,Eating and Feeding Disorders,Feeding Disorders,Appetite Disorder,Disorder, Eating,Disorder, Feeding,Disorders, Eating,Disorders, Feeding,Eating Disorder,Feeding Disorder
D047628 Estrogen Receptor alpha One of the ESTROGEN RECEPTORS that has marked affinity for ESTRADIOL. Its expression and function differs from, and in some ways opposes, ESTROGEN RECEPTOR BETA. ERalpha,Estradiol Receptor alpha,Estrogen Receptor 1,Estrogen Receptors alpha,Receptor alpha, Estrogen,Receptor alpha, Estradiol,alpha, Estradiol Receptor
D052018 Bulimia Nervosa An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. Nervosa, Bulimia
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults
D056726 Genetic Association Studies The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. Candidate Gene Identification,Candidate Gene Analysis,Candidate Gene Association Studies,Candidate Gene Association Study,Gene Discovery,Genotype-Phenotype Association,Genotype-Phenotype Associations,Genotype-Phenotype Correlation,Genotype-Phenotype Correlations,Analyses, Candidate Gene,Analysis, Candidate Gene,Association Studies, Genetic,Association Study, Genetic,Association, Genotype-Phenotype,Associations, Genotype-Phenotype,Candidate Gene Analyses,Correlation, Genotype-Phenotype,Correlations, Genotype-Phenotype,Discovery, Gene,Gene Analyses, Candidate,Gene Analysis, Candidate,Gene Identification, Candidate,Genetic Association Study,Genotype Phenotype Association,Genotype Phenotype Associations,Genotype Phenotype Correlation,Genotype Phenotype Correlations,Identification, Candidate Gene,Studies, Genetic Association,Study, Genetic Association

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