Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15120%2F18%3A73594998" target="_blank" >RIV/61989592:15120/18:73594998 - isvavai.cz</a>
Alternative codes found
RIV/00209805:_____/18:00078053
Result on the web
<a href="https://www.nature.com/articles/mp201788" target="_blank" >https://www.nature.com/articles/mp201788</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/mp.2017.88" target="_blank" >10.1038/mp.2017.88</a>

Result language
angličtina
Original language name
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Original language description
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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30215 - Psychiatry

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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