A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Tekijät: Huckins LM, Hatzikotoulas K, Southam L, Thornton LM, Steinberg J, Aguilera-McKay F, Treasure J, Schmidt U, Gunasinghe C, Romero A, Curtis C, Rhodes D, Moens J, Kalsi G, Dempster D, Leung R, Keohane A, Burghardt R, Ehrlich S, Hebebrand J, Hinney A, Ludolph A, Walton E, Deloukas P, Hofman A, Palotie A, Palta P, van Rooij FJA, Stirrups K, Adan R, Boni C, Cone R, Dedoussis G, van Furth E, Gonidakis F, Gorwood P, Hudson J, Kaprio J, Kas M, Keski-Rahonen A, Kiezebrink K, Knudsen GP, Slof-Op 't Landt MCT, Maj M, Monteleone AM, Monteleone P, Raevuori AH, Reichborn-Kjennerud T, Tozzi F, Tsitsika A, van Elburg A, Collier DA, Sullivan PF, Breen G, Bulik CM, Zeggini E
Kustantaja: NATURE PUBLISHING GROUP
Julkaisuvuosi: 2018
Lehti:: Molecular Psychiatry
Tietokannassa oleva lehden nimi: MOLECULAR PSYCHIATRY
Lehden akronyymi: MOL PSYCHIATR
Vuosikerta: 23
Numero: 5
Aloitussivu: 1169
Lopetussivu: 1180
Sivujen määrä: 12
ISSN: 1359-4184
eISSN: 1476-5578
DOI: https://doi.org/10.1038/mp.2017.88
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/45519933
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 x 10(-6)), and rs7700147, an intergenic variant (P = 2.93 x 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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
