Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
- Psychosoziale Medizin und Entwicklungsneurowissenschaften
- Klinik und Poliklinik für Kinder- und Jugendpsychiatrie
- Wellcome Sanger Institute
- Icahn School of Medicine at Mount Sinai
- University of North Carolina at Chapel Hill
- King's College London (KCL)
- University of Helsinki
- Universitätsklinikum Frankfurt
- Universität Duisburg-Essen
- Universitätsklinikum Tübingen
- Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
- Medizinische Fakultät Carl Gustav Carus Dresden
- Georgia State University
- Erasmus University Rotterdam
- Massachusetts General Hospital
- Kartini Clinic
- Utrecht University
- INSERM - Institut national de la santé et de la recherche médicale
- University of Michigan, Ann Arbor
- Harokopio University
- Rivierduinen Eating Disorders Ursula
- National and Kapodistrian University of Athens
- Harvard University
- University of Toronto
- University of Groningen
- University of Aberdeen
- Norwegian Institute of Public Health
- Leiden University
- Universita della Campania Luigi Vanvitelli
- King Abdullah University of Science and Technology
- University of Salerno
- Boston University
- University of Cyprus
- Children's Hospital Panagiotis and Aglaia Kyriakou
Abstract
Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10 -6), and rs7700147, an intergenic variant (P=2.93 × 10 -5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 1169-1180 |
Seitenumfang | 12 |
Fachzeitschrift | Molecular psychiatry |
Jahrgang | 23 |
Ausgabenummer | 5 |
Publikationsstatus | Veröffentlicht - 1 Mai 2018 |
Peer-Review-Status | Ja |
Externe IDs
PubMed | 29155802 |
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ORCID | /0000-0003-2132-4445/work/160950909 |