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Chunk #5 — Materials and Methods — Discovery dataset

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A genome-wide association study of anorexia nervosa.
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We conducted a GWAS across 15 discovery datasets, comprising a total of 2,907 AN cases and 14,860 ancestrally matched controls of European origin (Table 1). All AN cases were female. Diagnostic determination was via semi-structured or structured interview or population assessment strategy based on DSM diagnostic criteria. Cases met DSM-IV criteria for lifetime AN (restricting or binge-purge subtype) or lifetime DSM-IV eating disorders “not otherwise specified” (EDNOS) AN-subtype (i.e., exhibiting the core features of AN). We did not require the presence of amenorrhea as this criterion does not increase diagnostic specificity.44, 45 Given the frequency of diagnostic crossover, a lifetime history of bulimia nervosa was allowed.46 Exclusion criteria included the diagnosis of medical or psychiatric conditions that might have confounded the diagnosis of AN (e.g., psychotic disorders, mental retardation, or a medical or neurological condition causing weight loss). Controls were carefully selected to match for ancestry within each site and chosen primarily from existing GWAS genotypes through collaboration and genotyping repository (dbGAP) access. Each site obtained ethical approval from the local ethics committee, and all participants provided written informed consent in accordance with the Declaration of Helsinki.