%0 Journal Article
%A Brazel, David M
%A Jiang, Yu
%A Hughey, Jordan M
%A Turcot, Valérie
%A Zhan, Xiaowei
%A Gong, Jian
%A Batini, Chiara
%A Weissenkampen, J Dylan
%A Liu, MengZhen
%A Barnes, Daniel R
%A Bertelsen, Sarah
%A Chou, Yi-Ling
%A Erzurumluoglu, A Mesut
%A Faul, Jessica D
%A Haessler, Jeff
%A Hammerschlag, Anke R
%A Hsu, Chris
%A Kapoor, Manav
%A Lai, Dongbing
%A Le, Nhung
%A de Leeuw, Christiaan A
%A Loukola, Anu
%A Mangino, Massimo
%A Melbourne, Carl A
%A Pistis, Giorgio
%A Qaiser, Beenish
%A Rohde, Rebecca
%A Shao, Yaming
%A Stringham, Heather
%A Wetherill, Leah
%A Zhao, Wei
%A Agrawal, Arpana
%A Bierut, Laura
%A Chen, Chu
%A Eaton, Charles B
%A Goate, Alison
%A Haiman, Christopher
%A Heath, Andrew
%A Iacono, William G
%A Martin, Nicholas G
%A Polderman, Tinca J
%A Reiner, Alex
%A Rice, John
%A Schlessinger, David
%A Scholte, H Steven
%A Smith, Jennifer A
%A Tardif, Jean-Claude
%A Tindle, Hilary A
%A van der Leij, Andries R
%A Boehnke, Michael
%A Chang-Claude, Jenny
%A Cucca, Francesco
%A David, Sean P
%A Foroud, Tatiana
%A Howson, Joanna M M
%A Kardia, Sharon L R
%A Kooperberg, Charles
%A Laakso, Markku
%A Lettre, Guillaume
%A Madden, Pamela
%A McGue, Matt
%A North, Kari
%A Posthuma, Danielle
%A Spector, Timothy
%A Stram, Daniel
%A Tobin, Martin D
%A Weir, David R
%A Kaprio, Jaakko
%A Abecasis, Gonçalo R
%A Liu, Dajiang J
%A Vrieze, Scott
%A Surendran, Praveen
%A Young, Robin
%A Barnes, Daniel R
%A Nielsen, Sune Fallgaard
%A Rasheed, Asif
%A Samuel, Maria
%A Zhao, Wei
%A Kontto, Jukka
%A Perola, Markus
%A Caslake, Muriel
%A de Craen, Anton J M
%A Trompet, Stella
%A Uria-Nickelsen, Maria
%A Malarstig, Anders
%A Reily, Dermot F
%A Hoek, Maarten
%A Vogt, Thomas
%A Jukema, J Wouter
%A Sattar, Naveed
%A Ford, Ian
%A Packard, Chris J
%A Alam, Dewan S
%A Majumder, Abdulla Al Shafi
%A Di Angelantonio, Emanuele
%A Chowdhury, Rajiv
%A Amouyel, Philippe
%A Arveiler, Dominique
%A Blankenberg, Stefan
%A Ferrières, Jean
%A Kee, Frank
%A Kuulasmaa, Kari
%A Müller-Nurasyid, Martina
%A Veronesi, Giovanni
%A Virtamo, Jarmo
%A Epic-Cvd Consortium
%A Frossard, Philippe
%A Nordestgaard, Børge Grønne
%A Saleheen, Danish
%A Danesh, John
%A Butterworth, Adam S
%A Howson, Joanna M M
%A Erzurumluoglu, A Mesut
%A Jackson, Victoria E
%A Melbourne, Carl A
%A Varga, Tibor V
%A Warren, Helen R
%A Tragante, Vinicius
%A Tachmazidou, Ioanna
%A Harris, Sarah E
%A Evangelou, Evangelos
%A Marten, Jonathan
%A Zhang, Weihua
%A Altmaier, Elisabeth
%A Luan, Jian'an
%A Langenberg, Claudia
%A Scott, Robert A
%A Yaghootkar, Hanieh
%A Stirrups, Kathleen
%A Kanoni, Stavroula
%A Marouli, Eirini
%A Karpe, Fredrik
%A Dominiczak, Anna F
%A Sever, Peter
%A Poulter, Neil
%A Rolandsson, Olov
%A Baumbach, Clemens
%A Afaq, Saima
%A Chambers, John C
%A Kooner, Jaspal S
%A Wareham, Nicholas J
%A Renström, Frida
%A Hallmans, Göran
%A Marioni, Riccardo E
%A Corley, Janie
%A Starr, John M
%A Verweij, Niek
%A de Boer, Rudolf A
%A van der Meer, Peter
%A Yavas, Ersin
%A Vaartjes, Ilonca
%A Bots, Michiel L
%A Asselbergs, Folkert W
%A Grabe, Hans J
%A Völzke, Henry
%A Nauck, Matthias
%A Weiss, Stefan
%A Pharoah, Paul D P
%A Dunning, Alison M
%A Dennis, Joe G
%A Thompson, Deborah J
%A Michailidou, Kyriaki
%A Easton, Douglas F
%A Antoniou, Antonis C
%A Tyrrell, Jessica
%A Mihailov, Evelin
%A Samani, Nilesh J
%A Zhou, Kaixin
%A Neville, Matthew J
%A Metspalu, Andres
%A Palmer, Colin N A
%A Hall, Ian P
%A Strachan, David P
%A Deary, Ian J
%A Frayling, Tim M
%A Hayward, Caroline
%A van der Harst, Pim
%A Zeggini, Eleftheria
%A Understanding Society Scientific Group
%A Munroe, Patricia B
%A Jansson, Jan-Håkan
%A Franks, Paul W
%A Deloukas, Panos
%A Caulfield, Mark J
%A Wain, Louise V
%A Tobin, Martin D
%T Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.
%J Biological psychiatry
%V 85
%N 11
%@ 0006-3223
%C Amsterdam [u.a.]
%I Elsevier Science
%M DKFZ-2019-01594
%P 946 - 955
%D 2019
%X Smoking and alcohol use have been associated with common genetic variants in multiple loci. Rare variants within these loci hold promise in the identification of biological mechanisms in substance use. Exome arrays and genotype imputation can now efficiently genotype rare nonsynonymous and loss of function variants. Such variants are expected to have deleterious functional consequences and to contribute to disease risk.We analyzed ∼250,000 rare variants from 16 independent studies genotyped with exome arrays and augmented this dataset with imputed data from the UK Biobank. Associations were tested for five phenotypes: cigarettes per day, pack-years, smoking initiation, age of smoking initiation, and alcoholic drinks per week. We conducted stratified heritability analyses, single-variant tests, and gene-based burden tests of nonsynonymous/loss-of-function coding variants. We performed a novel fine-mapping analysis to winnow the number of putative causal variants within associated loci.Meta-analytic sample sizes ranged from 152,348 to 433,216, depending on the phenotype. Rare coding variation explained 1.1
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30679032
%2 pmc:PMC6534468
%R 10.1016/j.biopsych.2018.11.024
%U https://inrepo02.dkfz.de/record/144043