Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

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Fältnamn	Indikatorer	Metadata
000		07149naa a2201717 4500
001		oai:DiVA.org:uu-153554
003		SwePub
008		110516s2011 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1535542 URI
024	7	a https://doi.org/10.1073/pnas.10172881082 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Schumann, Gunter4 aut
245	1 0	a Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption
264		c 2011-04-06
264	1	b Proceedings of the National Academy of Sciences,c 2011
338		a print2 rdacarrier
520		a Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of similar to 2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). We found a genotype-specific expression of AUTS2 in 96 human prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Downregulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mechanisms influencing alcohol drinking behavior.
653		a genome-wide analysis
653		a epidemiologic
653		a transcriptional expression analysis
653		a MEDICINE
653		a MEDICIN
700	1	a Coin, Lachlan J.4 aut
700	1	a Lourdusamy, Anbarasu4 aut
700	1	a Charoen, Pimphen4 aut
700	1	a Berger, Karen H.4 aut
700	1	a Stacey, David4 aut
700	1	a Desrivieres, Sylvane4 aut
700	1	a Aliev, Fazil A.4 aut
700	1	a Khan, Anokhi A.4 aut
700	1	a Amin, Najaf4 aut
700	1	a Aulchenko, Yurii S.4 aut
700	1	a Bakalkin, Georgyu Uppsala universitet,Institutionen för farmaceutisk biovetenskap4 aut0 (Swepub:uu)gueba200
700	1	a Bakker, Stephan J.4 aut
700	1	a Balkau, Beverley4 aut
700	1	a Beulens, Joline W.4 aut
700	1	a Bilbao, Ainhoa4 aut
700	1	a de Boer, Rudolf A.4 aut
700	1	a Beury, Delphine4 aut
700	1	a Bots, Michiel L.4 aut
700	1	a Breetvelt, Elemi J.4 aut
700	1	a Cauchi, Stephane4 aut
700	1	a Cavalcanti-Proenca, Christine4 aut
700	1	a Chambers, John C.4 aut
700	1	a Clarke, Toni-Kim4 aut
700	1	a Dahmen, Norbert4 aut
700	1	a de Geus, Eco J.4 aut
700	1	a Dick, Danielle4 aut
700	1	a Ducci, Francesca4 aut
700	1	a Easton, Alanna4 aut
700	1	a Edenberg, Howard J.4 aut
700	1	a Esk, Tonu4 aut
700	1	a Fernandez-Medarde, Alberto4 aut
700	1	a Foroud, Tatiana4 aut
700	1	a Freimer, Nelson B.4 aut
700	1	a Girault, Jean-Antoine4 aut
700	1	a Grobbee, Diederick E.4 aut
700	1	a Guarrera, Simonetta4 aut
700	1	a Gudbjartsson, Daniel F.4 aut
700	1	a Hartikainen, Anna-Liisa4 aut
700	1	a Heath, Andrew C.4 aut
700	1	a Hesselbrock, Victor4 aut
700	1	a Hofman, Albert4 aut
700	1	a Hottenga, Jouke-Jan4 aut
700	1	a Isohanni, Matti K.4 aut
700	1	a Kaprio, Jaakko4 aut
700	1	a Khaw, Kay-Tee4 aut
700	1	a Kuehnel, Brigitte4 aut
700	1	a Laitinen, Jaana4 aut
700	1	a Lobbens, Stephane4 aut
700	1	a Luan, Jian'an4 aut
700	1	a Mangino, Massimo4 aut
700	1	a Maroteaux, Matthieu4 aut
700	1	a Matullo, Giuseppe4 aut
700	1	a McCarthy, Mark I.4 aut
700	1	a Mueller, Christian4 aut
700	1	a Navis, Gerjan4 aut
700	1	a Numans, Mattijs E.4 aut
700	1	a Nunez, Alejandro4 aut
700	1	a Nyholt, Dale R.4 aut
700	1	a Onland-Moret, Charlotte N.4 aut
700	1	a Oostra, Ben A.4 aut
700	1	a O'Reilly, Paul F.4 aut
700	1	a Palkovits, Miklos4 aut
700	1	a Penninx, Brenda W.4 aut
700	1	a Polidoro, Silvia4 aut
700	1	a Pouta, Anneli4 aut
700	1	a Prokopenko, Inga4 aut
700	1	a Ricceri, Fulvio4 aut
700	1	a Santos, Eugenio4 aut
700	1	a Smit, Johannes H.4 aut
700	1	a Soranzo, Nicole4 aut
700	1	a Song, Kijoung4 aut
700	1	a Sovio, Ulla4 aut
700	1	a Stumvoll, Michael4 aut
700	1	a Surakk, Ida4 aut
700	1	a Thorgeirsson, Thorgeir E.4 aut
700	1	a Thorsteinsdottir, Unnur4 aut
700	1	a Troakes, Claire4 aut
700	1	a Tyrfingsson, Thorarinn4 aut
700	1	a Toenjes, Anke4 aut
700	1	a Uiterwaal, Cuno S.4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a van der Harst, Pim4 aut
700	1	a van der Schouw, Yvonne T.4 aut
700	1	a Staehlin, Oliver4 aut
700	1	a Vogelzangs, Nicole4 aut
700	1	a Vollenweider, Peter4 aut
700	1	a Waeber, Gerard4 aut
700	1	a Wareham, Nicholas J.4 aut
700	1	a Waterworth, Dawn M.4 aut
700	1	a Whitfield, John B.4 aut
700	1	a Wichmann, Erich H.4 aut
700	1	a Willemsen, Gonneke4 aut
700	1	a Witteman, Jacqueline C.4 aut
700	1	a Yuan, Xin4 aut
700	1	a Zhai, Guangju4 aut
700	1	a Zhao, Jing H.4 aut
700	1	a Zhang, Weihua4 aut
700	1	a Martin, Nicholas G.4 aut
700	1	a Metspalu, Andres4 aut
700	1	a Doering, Angela4 aut
700	1	a Scott, James4 aut
700	1	a Spector, Tim D.4 aut
700	1	a Loos, Ruth J.4 aut
700	1	a Boomsma, Dorret I.4 aut
700	1	a Mooser, Vincent4 aut
700	1	a Peltonen, Leena4 aut
700	1	a Stefansson, Kari4 aut
700	1	a van Duijn, Cornelia M.4 aut
700	1	a Vineis, Paolo4 aut
700	1	a Sommer, Wolfgang H.4 aut
700	1	a Kooner, Jaspal S.4 aut
700	1	a Spanagel, Rainer4 aut
700	1	a Heberlein, Ulrike A.4 aut
700	1	a Jarvelin, Marjo-Riitta4 aut
700	1	a Elliott, Paul4 aut
710	2	a Uppsala universitetb Institutionen för farmaceutisk biovetenskap4 org
773	0	t Proceedings of the National Academy of Sciences of the United States of Americad : Proceedings of the National Academy of Sciencesg 108:17, s. 7119-7124q 108:17<7119-7124x 0027-8424x 1091-6490
856	4	u http://www.pnas.org/content/108/17/7119.full.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-153554
856	4 8	u https://doi.org/10.1073/pnas.1017288108

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Av författaren/redakt...: Schumann, Gunter; Coin, Lachlan J.; Lourdusamy, Anba ...; Charoen, Pimphen; Berger, Karen H.; Stacey, David; visa fler...; Desrivieres, Syl ...; Aliev, Fazil A.; Khan, Anokhi A.; Amin, Najaf; Aulchenko, Yurii ...; Bakalkin, Georgy; Bakker, Stephan ...; Balkau, Beverley; Beulens, Joline ...; Bilbao, Ainhoa; de Boer, Rudolf ...; Beury, Delphine; Bots, Michiel L.; Breetvelt, Elemi ...; Cauchi, Stephane; Cavalcanti-Proen ...; Chambers, John C ...; Clarke, Toni-Kim; Dahmen, Norbert; de Geus, Eco J.; Dick, Danielle; Ducci, Francesca; Easton, Alanna; Edenberg, Howard ...; Esk, Tonu; Fernandez-Medard ...; Foroud, Tatiana; Freimer, Nelson ...; Girault, Jean-An ...; Grobbee, Diederi ...; Guarrera, Simone ...; Gudbjartsson, Da ...; Hartikainen, Ann ...; Heath, Andrew C.; Hesselbrock, Vic ...; Hofman, Albert; Hottenga, Jouke- ...; Isohanni, Matti ...; Kaprio, Jaakko; Khaw, Kay-Tee; Kuehnel, Brigitt ...; Laitinen, Jaana; Lobbens, Stephan ...; Luan, Jian'an; Mangino, Massimo; Maroteaux, Matth ...; Matullo, Giusepp ...; McCarthy, Mark I ...; Mueller, Christi ...; Navis, Gerjan; Numans, Mattijs ...; Nunez, Alejandro; Nyholt, Dale R.; Onland-Moret, Ch ...; Oostra, Ben A.; O'Reilly, Paul F ...; Palkovits, Miklo ...; Penninx, Brenda ...; Polidoro, Silvia; Pouta, Anneli; Prokopenko, Inga; Ricceri, Fulvio; Santos, Eugenio; Smit, Johannes H ...; Soranzo, Nicole; Song, Kijoung; Sovio, Ulla; Stumvoll, Michae ...; Surakk, Ida; Thorgeirsson, Th ...; Thorsteinsdottir ...; Troakes, Claire; Tyrfingsson, Tho ...; Toenjes, Anke; Uiterwaal, Cuno ...; Uitterlinden, An ...; van der Harst, P ...; van der Schouw, ...; Staehlin, Oliver; Vogelzangs, Nico ...; Vollenweider, Pe ...; Waeber, Gerard; Wareham, Nichola ...; Waterworth, Dawn ...; Whitfield, John ...; Wichmann, Erich ...; Willemsen, Gonne ...; Witteman, Jacque ...; Yuan, Xin; Zhai, Guangju; Zhao, Jing H.; Zhang, Weihua; Martin, Nicholas ...; Metspalu, Andres; Doering, Angela; Scott, James; Spector, Tim D.; Loos, Ruth J.; Boomsma, Dorret ...; Mooser, Vincent; Peltonen, Leena; Stefansson, Kari; van Duijn, Corne ...; Vineis, Paolo; Sommer, Wolfgang ...; Kooner, Jaspal S ...; Spanagel, Rainer; Heberlein, Ulrik ...; Jarvelin, Marjo- ...; Elliott, Paul; visa färre...

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