A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3056646 74 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation. © 2017 The Author(s).
Έτος δημοσίευσης:
2017
Συγγραφείς:
Li, D.
Chang, X.
Connolly, J.J.
Tian, L.
Liu, Y.
Bhoj, E.J.
Robinson, N.
Abrams, D.
Li, Y.R.
Bradfield, J.P.
Kim, C.E.
Li, J.
Wang, F.
Snyder, J.
Lemma, M.
Hou, C.
Wei, Z.
Guo, Y.
Qiu, H.
Mentch, F.D.
Thomas, K.A.
Chiavacci, R.M.
Cone, R.
Li, B.
Sleiman, P.A.
Hakonarson, H.
Perica, V.B.
Franklin, C.S.
Floyd, J.A.B.
Thornton, L.M.
Huckins, L.M.
Southam, L.
Rayner, N.W.
Tachmazidou, I.
Schmidt, U.
Tozzi, F.
Kiezebrink, K.
Hebebrand, J.
Gorwood, P.
Adan, R.A.H.
Kas, M.J.H.
Favaro, A.
Santonastaso, P.
Fernánde-Aranda, F.
Gratacos, M.
Rybakowski, F.
Dmitrzak-Weglarz, M.
Kaprio, J.
Keski-Rahkonen, A.
Raevuori-Helkamaa, A.
Furth, E.F.V.
Slof-Opt Landt, M.C.T.
Hudson, J.I.
Reichborn-Kjennerud, T.
Knudsen, G.P.S.
Monteleone, P.
Karwautz, A.
Berrettini, W.H.
Schork, N.J.
Ando, T.
Inoko, H.
Esko, T.
Fischer, K.
Männik, K.
Metspalu, A.
Baker, J.H.
DeSocio, J.E.
Hilliard, C.E.
O'Toole, J.K.
Pantel, J.
Szatkiewicz, J.P.
Zerwas, S.
Davis, O.S.P.
Helder, S.
Bühren, K.
Burghardt, R.
De Zwaan, M.
Egberts, K.
Ehrlich, S.
Herpertz-Dahlmann, B.
Herzog, W.
Imgart, H.
Scherag, A.
Zipfel, S.
Boni, C.
Ramoz, N.
Versini, A.
Danner, U.N.
Hendriks, J.
Koeleman, B.P.C.
Ophoff, R.A.
Strengman, E.
Van Elburg, A.A.
Bruson, A.
Clementi, M.
Degortes, D.
Forzan, M.
Tenconi, E.
Docampo, E.
Escaramís, G.
Jiménez-Murcia, S.
Lissowska, J.
Rajewski, A.
Szeszenia-Dabrowska, N.
Slopien, A.
Hauser, J.
Karhunen, L.
Meulenbelt, I.
Slagboom, P.E.
Tortorella, A.
Maj, M.
Dedoussis, G.
DIkeos, D.
Gonidakis, F.
Tziouvas, K.
Tsitsika, A.
Papezova, H.
Slachtova, L.
Martaskova, D.
Kennedy, J.L.
Levitan, R.D.
Yilmaz, Z.
Huemer, J.
Koubek, D.
Merl, E.
Wagner, G.
Lichtenstein, P.
Breen, G.
Cohen-Woods, S.
Farmer, A.
McGuffin, P.
Cichon, S.
Giegling, I.
Herms, S.
Rujescu, D.
Schreiber, S.
Wichmann, H.-E.
DIna, C.
Sladek, R.
Gambaro, G.
Soranzo, N.
Julia, A.
Marsal, S.
Rabionet, R.
Gaborieau, V.
DIck, D.M.
Palotie, A.
Ripatti, S.
Widén, E.
Andreassen, O.A.
Espeseth, T.
Lundervold, A.
Reinvang, I.
Steen, V.M.
Le Hellard, S.
Mattingsdal, M.
Ntalla, I.
Bencko, V.
Foretova, L.
Janout, V.
Navratilova, M.
Gallinger, S.
Pinto, D.
Scherer, S.W.
Aschauer, H.
Carlberg, L.
Schosser, A.
Alfredsson, L.
DIng, B.
Klareskog, L.
Padyukov, L.
Finan, C.
Kalsi, G.
Roberts, M.
Barrett, J.C.
Estivill, X.
Hinney, A.
Sullivan, P.F.
Zeggini, E.
Bulik, C.M.
Brandt, H.
Crawford, S.
Crow, S.
Fichter, M.M.
Halmi, K.A.
Johnson, C.
Kaplan, A.S.
La Via, M.C.
Mitchell, J.
Strober, M.
Rotondo, A.
Treasure, J.
Woodside, D.B.
Keel, P.K.
Klump, K.L.
Lilenfeld, L.
Bergen, A.W.
Kaye, W.
Magistretti, P.
Περιοδικό:
Scientific Reports
Εκδότης:
Nature Publishing Group
Τόμος:
7
Αριθμός / τεύχος:
1
Επίσημο URL (Εκδότης):
DOI:
10.1038/s41598-017-01674-8
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