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  • 1. Cornelis, M C
    et al.
    Byrne, E M
    Esko, T
    Nalls, M A
    Ganna, A
    Paynter, N
    Monda, K L
    Amin, N
    Fischer, K
    Renstrom, F
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Nutritional Research. Umeå University, Faculty of Medicine, Department of Biobank Research.
    Ngwa, J S
    Huikari, V
    Cavadino, A
    Nolte, I M
    Teumer, A
    Yu, K
    Marques-Vidal, P
    Rawal, R
    Manichaikul, A
    Wojczynski, M K
    Vink, J M
    Zhao, J H
    Burlutsky, G
    Lahti, J
    Mikkilä, V
    Lemaitre, R N
    Eriksson, J
    Musani, S K
    Tanaka, T
    Geller, F
    Luan, J
    Hui, J
    Mägi, R
    Dimitriou, M
    Garcia, M E
    Ho, W-K
    Wright, M J
    Rose, L M
    Magnusson, P K E
    Pedersen, N L
    Couper, D
    Oostra, B A
    Hofman, A
    Ikram, M A
    Tiemeier, H W
    Uitterlinden, A G
    van Rooij, F J A
    Barroso, I
    Johansson, Ingegerd
    Umeå University, Faculty of Medicine, Department of Odontology. Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Nutritional Research. Umeå University, Faculty of Medicine, Department of Biobank Research.
    Xue, L
    Kaakinen, M
    Milani, L
    Power, C
    Snieder, H
    Stolk, R P
    Baumeister, S E
    Biffar, R
    Gu, F
    Bastardot, F
    Kutalik, Z
    Jacobs, D R
    Forouhi, N G
    Mihailov, E
    Lind, L
    Lindgren, C
    Michaëlsson, K
    Morris, A
    Jensen, M
    Khaw, K-T
    Luben, R N
    Wang, J J
    Männistö, S
    Perälä, M-M
    Kähönen, M
    Lehtimäki, T
    Viikari, J
    Mozaffarian, D
    Mukamal, K
    Psaty, B M
    Döring, A
    Heath, A C
    Montgomery, G W
    Dahmen, N
    Carithers, T
    Tucker, K L
    Ferrucci, L
    Boyd, H A
    Melbye, M
    Treur, J L
    Mellström, D
    Hottenga, J J
    Prokopenko, I
    Tönjes, A
    Deloukas, P
    Kanoni, S
    Lorentzon, M
    Houston, D K
    Liu, Y
    Danesh, J
    Rasheed, A
    Mason, M A
    Zonderman, A B
    Franke, L
    Kristal, B S
    Karjalainen, J
    Reed, D R
    Westra, H-J
    Evans, M K
    Saleheen, D
    Harris, T B
    Dedoussis, G
    Curhan, G
    Stumvoll, M
    Beilby, J
    Pasquale, L R
    Feenstra, B
    Bandinelli, S
    Ordovas, J M
    Chan, A T
    Peters, U
    Ohlsson, C
    Gieger, C
    Martin, N G
    Waldenberger, M
    Siscovick, D S
    Raitakari, O
    Eriksson, J G
    Mitchell, P
    Hunter, D J
    Kraft, P
    Rimm, E B
    Boomsma, D I
    Borecki, I B
    Loos, R J F
    Wareham, N J
    Vollenweider, P
    Caporaso, N
    Grabe, H J
    Neuhouser, M L
    Wolffenbuttel, B H R
    Hu, F B
    Hyppönen, E
    Järvelin, M-R
    Cupples, L A
    Franks, Paul W
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine. Department of Nutrition, Harvard School of Public Health, Boston, MA, USA; Lund Univ, Dept Clin Sci, Malmo, Sweden.
    Ridker, P M
    van Duijn, C M
    Heiss, G
    Metspalu, A
    North, K E
    Ingelsson, E
    Nettleton, J A
    van Dam, R M
    Chasman, D I
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption2015In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 20, no 5, p. 647-656Article in journal (Refereed)
    Abstract [en]

    Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91 462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 × 10(-8)).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.

  • 2. Córdova-Palomera, Aldo
    et al.
    van der Meer, Dennis
    Kaufmann, Tobias
    Bettella, Francesco
    Wang, Yunpeng
    Alnaes, Dag
    Doan, Nhat Trung
    Agartz, Ingrid
    Bertolino, Alessandro
    Buitelaar, Jan K.
    Coynel, David
    Djurovic, Srdjan
    Dørum, Erlend S.
    Espeseth, Thomas
    Fazio, Leonardo
    Franke, Barbara
    Frei, Oleksandr
    Håberg, Asta
    Le Hellard, Stephanie
    Jönsson, Erik G.
    Kolskår, Knut K.
    Lund, Martina J.
    Moberget, Torgeir
    Nordvik, Jan E.
    Nyberg, Lars
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Papassotiropoulos, Andreas
    Pergola, Giulio
    de Quervain, Dominique
    Rampino, Antonio
    Richard, Genevieve
    Rokicki, Jaroslav
    Sanders, Anne-Marthe
    Schwarz, Emanuel
    Smeland, Olav B.
    Steen, Vidar M.
    Starrfelt, Jostein
    Sønderby, Ida E.
    Ulrichsen, Kristine M.
    Andreassen, Ole A.
    Westlye, Lars T.
    Genetic control of variability in subcortical and intracranial volumes2020In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578Article in journal (Refereed)
    Abstract [en]

    Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology to perform genome-wide association analysis of mean and variance in ten key brain features (accumbens, amygdala, caudate, hippocampus, pallidum, putamen, thalamus, intracranial volume, cortical surface area, and cortical thickness), integrating genetic and neuroanatomical data from a large lifespan sample (n = 25,575 individuals; 8-89 years, mean age 51.9 years). We identify genetic loci associated with phenotypic variability in thalamus volume and cortical thickness. The variance-controlling loci involved genes with a documented role in brain and mental health and were not associated with the mean anatomical volumes. This proof-of-principle of the hypothesis of a genetic regulation of brain volume variability contributes to establishing the genetic basis of phenotypic variance (i.e., heritability), allows identifying different degrees of brain robustness across individuals, and opens new research avenues in the search for mechanisms controlling brain and mental health.

  • 3. Davies, G.
    et al.
    Armstrong, N.
    Bis, J. C.
    Bressler, J.
    Chouraki, V.
    Giddaluru, S.
    Hofer, E.
    Ibrahim-Verbaas, C. A.
    Kirin, M.
    Lahti, J.
    van der Lee, S. J.
    Le Hellard, S.
    Liu, T.
    Marioni, R. E.
    Oldmeadow, C.
    Postmus, I.
    Smith, A. V.
    Smith, J. A.
    Thalamuthu, A.
    Thomson, R.
    Vitart, V.
    Wang, J.
    Yu, L.
    Zgaga, L.
    Zhao, W.
    Boxall, R.
    Harris, S. E.
    Hill, W. D.
    Liewald, D. C.
    Luciano, M.
    Adams, H.
    Ames, D.
    Amin, N.
    Amouyel, P.
    Assareh, A. A.
    Au, R.
    Becker, J. T.
    Beiser, A.
    Berr, C.
    Bertram, L.
    Boerwinkle, E.
    Buckley, B. M.
    Campbell, H.
    Corley, J.
    De Jager, P. L.
    Dufouil, C.
    Eriksson, J. G.
    Espeseth, T.
    Faul, J. D.
    Ford, I.
    Gottesman, R. F.
    Griswold, M. E.
    Gudnason, V.
    Harris, T. B.
    Heiss, G.
    Hofman, A.
    Holliday, E. G.
    Huffman, J.
    Kardia, S. L. R.
    Kochan, N.
    Knopman, D. S.
    Kwok, J. B.
    Lambert, J-C
    Lee, T.
    Li, G.
    Li, S-C
    Loitfelder, M.
    Lopez, O. L.
    Lundervold, A. J.
    Lundquist, Anders
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Mather, K. A.
    Mirza, S. S.
    Nyberg, Lars
    Umeå University, Faculty of Medicine, Department of Integrative Medical Biology (IMB). Umeå University, Faculty of Medicine, Department of Radiation Sciences. Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Oostra, B. A.
    Palotie, A.
    Papenberg, G.
    Pattie, A.
    Petrovic, K.
    Polasek, O.
    Psaty, B. M.
    Redmond, P.
    Reppermund, S.
    Rotter, J. I.
    Schmidt, H.
    Schuur, M.
    Schofield, P. W.
    Scott, R. J.
    Steen, V. M.
    Stott, D. J.
    Van Swieten, J. C.
    Taylor, K. D.
    Trollor, J.
    Trompet, S.
    Uitterlinden, A. G.
    Weinstein, G.
    Widen, E.
    Windham, B. G.
    Jukema, J. W.
    Wright, A. F.
    Wright, M. J.
    Yang, Q.
    Amieva, H.
    Attia, J. R.
    Bennett, D. A.
    Brodaty, H.
    de Craen, A. J. M.
    Hayward, C.
    Ikram, M. A.
    Lindenberger, U.
    Nilsson, Lars-Göran
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI). ARC, Karolinska Institutet, Stockholm.
    Porteous, D. J.
    Raikkonen, K.
    Reinvang, I.
    Rudan, I.
    Sachdev, P. S.
    Schmidt, R.
    Schofield, P. R.
    Srikanth, V.
    Starr, J. M.
    Turner, S. T.
    Weir, D. R.
    Wilson, J. F.
    Van Duijn, C.
    Launer, L.
    Fitzpatrick, A. L.
    Seshadri, S.
    Jr, T. H. Mosley
    Deary, I. J.
    Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)2015In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 20, no 2, p. 183-192Article in journal (Refereed)
    Abstract [en]

    General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health-and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N = 53 949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P = 3.93 x 10(-9), MIR2113; rs17522122, P = 2.55 x 10(-8), AKAP6; rs10119, P = 5.67 x 10(-9), APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P = 1x10(-6)). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N = 6617) and the Health and Retirement Study (N = 5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e. = 5%) and 28% (s.e. = 7%), respectively. Using polygenic prediction analysis, similar to 1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N = 5487; P = 1.5 x 10(-17)). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.

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  • 4. Erzurumluoglu, A Mesut
    et al.
    Liu, Mengzhen
    Jackson, Victoria E
    Barnes, Daniel R
    Datta, Gargi
    Melbourne, Carl A
    Young, Robin
    Batini, Chiara
    Surendran, Praveen
    Jiang, Tao
    Adnan, Sheikh Daud
    Afaq, Saima
    Agrawal, Arpana
    Altmaier, Elisabeth
    Antoniou, Antonis C
    Asselbergs, Folkert W
    Baumbach, Clemens
    Bierut, Laura
    Bertelsen, Sarah
    Boehnke, Michael
    Bots, Michiel L
    Brazel, David M
    Chambers, John C
    Chang-Claude, Jenny
    Chen, Chu
    Corley, Janie
    Chou, Yi-Ling
    David, Sean P
    de Boer, Rudolf A
    de Leeuw, Christiaan A
    Dennis, Joe G
    Dominiczak, Anna F
    Dunning, Alison M
    Easton, Douglas F
    Eaton, Charles
    Elliott, Paul
    Evangelou, Evangelos
    Faul, Jessica D
    Foroud, Tatiana
    Goate, Alison
    Gong, Jian
    Grabe, Hans J
    Haessler, Jeff
    Haiman, Christopher
    Hallmans, Göran
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Nutritional Research.
    Hammerschlag, Anke R
    Harris, Sarah E
    Hattersley, Andrew
    Heath, Andrew
    Hsu, Chris
    Iacono, William G
    Kanoni, Stavroula
    Kapoor, Manav
    Kaprio, Jaakko
    Kardia, Sharon L
    Karpe, Fredrik
    Kontto, Jukka
    Kooner, Jaspal S
    Kooperberg, Charles
    Kuulasmaa, Kari
    Laakso, Markku
    Lai, Dongbing
    Langenberg, Claudia
    Le, Nhung
    Lettre, Guillaume
    Loukola, Anu
    Luan, Jian'an
    Madden, Pamela A F
    Mangino, Massimo
    Marioni, Riccardo E
    Marouli, Eirini
    Marten, Jonathan
    Martin, Nicholas G
    McGue, Matt
    Michailidou, Kyriaki
    Mihailov, Evelin
    Moayyeri, Alireza
    Moitry, Marie
    Müller-Nurasyid, Martina
    Naheed, Aliya
    Nauck, Matthias
    Neville, Matthew J
    Nielsen, Sune Fallgaard
    North, Kari
    Perola, Markus
    Pharoah, Paul D P
    Pistis, Giorgio
    Polderman, Tinca J
    Posthuma, Danielle
    Poulter, Neil
    Qaiser, Beenish
    Rasheed, Asif
    Reiner, Alex
    Renstrom, Frida
    Umeå University, Faculty of Medicine, Department of Biobank Research. Genetic and Molecular Epidemiology Unit, Lund University.
    Rice, John
    Rohde, Rebecca
    Rolandsson, Olov
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Family Medicine.
    Samani, Nilesh J
    Samuel, Maria
    Schlessinger, David
    Scholte, Steven H
    Scott, Robert A
    Sever, Peter
    Shao, Yaming
    Shrine, Nick
    Smith, Jennifer A
    Starr, John M
    Stirrups, Kathleen
    Stram, Danielle
    Stringham, Heather M
    Tachmazidou, Ioanna
    Tardif, Jean-Claude
    Thompson, Deborah J
    Tindle, Hilary A
    Tragante, Vinicius
    Trompet, Stella
    Turcot, Valerie
    Tyrrell, Jessica
    Vaartjes, Ilonca
    van der Leij, Andries R
    van der Meer, Peter
    Varga, Tibor V
    Verweij, Niek
    Völzke, Henry
    Wareham, Nicholas J
    Warren, Helen R
    Weir, David R
    Weiss, Stefan
    Wetherill, Leah
    Yaghootkar, Hanieh
    Yavas, Ersin
    Jiang, Yu
    Chen, Fang
    Zhan, Xiaowei
    Zhang, Weihua
    Zhao, Wei
    Zhao, Wei
    Zhou, Kaixin
    Amouyel, Philippe
    Blankenberg, Stefan
    Caulfield, Mark J
    Chowdhury, Rajiv
    Cucca, Francesco
    Deary, Ian J
    Deloukas, Panos
    Di Angelantonio, Emanuele
    Ferrario, Marco
    Ferrières, Jean
    Franks, Paul W
    Frayling, Tim M
    Frossard, Philippe
    Hall, Ian P
    Hayward, Caroline
    Jansson, Jan-Håkan
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine. Department of Public Health and Clinical Medicine, Skellefteå Research Unit, Umeå University, Umeå, Sweden..
    Jukema, J Wouter
    Kee, Frank
    Männistö, Satu
    Metspalu, Andres
    Munroe, Patricia B
    Nordestgaard, Børge Grønne
    Palmer, Colin N A
    Salomaa, Veikko
    Sattar, Naveed
    Spector, Timothy
    Strachan, David Peter
    van der Harst, Pim
    Zeggini, Eleftheria
    Saleheen, Danish
    Butterworth, Adam S
    Wain, Louise V
    Abecasis, Goncalo R
    Danesh, John
    Tobin, Martin D
    Vrieze, Scott
    Liu, Dajiang J
    Howson, Joanna M M
    Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci2019In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578Article in journal (Refereed)
    Abstract [en]

    Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10-8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10-8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10-3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.

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  • 5. O'Donovan, M C
    et al.
    Norton, N
    Williams, H
    Peirce, T
    Moskvina, V
    Nikolov, I
    Hamshere, M
    Carroll, L
    Georgieva, L
    Dwyer, S
    Holmans, P
    Marchini, J L
    Spencer, C C A
    Howie, B
    Leung, H-T
    Giegling, I
    Hartmann, A M
    Möller, H-J
    Morris, D W
    Shi, Y
    Feng, G
    Hoffmann, P
    Propping, P
    Vasilescu, C
    Maier, W
    Rietschel, M
    Zammit, S
    Schumacher, J
    Quinn, E M
    Schulze, T G
    Iwata, N
    Ikeda, M
    Darvasi, A
    Shifman, S
    He, L
    Duan, J
    Sanders, A R
    Levinson, D F
    Adolfsson, Rolf
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
    Osby, U
    Terenius, L
    Jönsson, E G
    Cichon, S
    Nöthen, M M
    Gill, M
    Corvin, A P
    Rujescu, D
    Gejman, P V
    Kirov, G
    Craddock, N
    Williams, N M
    Owen, M J
    Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 22009In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 14, no 1, p. 30-36Article in journal (Refereed)
    Abstract [en]

    We and others have previously reported linkage to schizophrenia on chromosome 10q25-q26 but, to date, a susceptibility gene in the region has not been identified. We examined data from 3606 single-nucleotide polymorphisms (SNPs) mapping to 10q25-q26 that had been typed in a genome-wide association study (GWAS) of schizophrenia (479 UK cases/2937 controls). SNPs with P<0.01 (n=40) were genotyped in an additional 163 UK cases and those markers that remained nominally significant at P<0.01 (n=22) were genotyped in replication samples from Ireland, Germany and Bulgaria consisting of a total of 1664 cases with schizophrenia and 3541 controls. Only one SNP, rs17101921, was nominally significant after meta-analyses across the replication samples and this was genotyped in an additional six samples from the United States/Australia, Germany, China, Japan, Israel and Sweden (n=5142 cases/6561 controls). Across all replication samples, the allele at rs17101921 that was associated in the GWAS showed evidence for association independent of the original data (OR 1.17 (95% CI 1.06-1.29), P=0.0009). The SNP maps 85 kb from the nearest gene encoding fibroblast growth factor receptor 2 (FGFR2) making this a potential susceptibility gene for schizophrenia.

  • 6. Sonderby, Ida E.
    et al.
    Gustafsson, Omar
    Doan, Nhat Trung
    Hibar, Derrek P.
    Martin-Brevet, Sandra
    Abdellaoui, Abdel
    Ames, David
    Amunts, Katrin
    Andersson, Micael
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Armstrong, Nicola J.
    Bernard, Manon
    Blackburn, Nicholas
    Blangero, John
    Boomsma, Dorret, I
    Bralten, Janita
    Brattbak, Hans-Richard
    Brodaty, Henry
    Brouwer, Rachel M.
    Buelow, Robin
    Calhoun, Vince
    Caspers, Svenja
    Cavalleri, Gianpiero
    Chen, Chi-Hua
    Cichon, Sven
    Ciufolini, Simone
    Corvin, Aiden
    Crespo-Facorro, Benedicto
    Curran, Joanne E.
    Dale, Anders M.
    Dalvie, Shareefa
    Dazzan, Paola
    de Geus, Eco J. C.
    de Zubicaray, Greig, I
    de Zwarte, Sonja M. C.
    Delanty, Norman
    den Braber, Anouk
    Desrivieres, Sylvane
    Donohoe, Gary
    Draganski, Bogdan
    Ehrlich, Stefan
    Espeseth, Thomas
    Fisher, Simon E.
    Franke, Barbara
    Frouin, Vincent
    Fukunaga, Masaki
    Gareau, Thomas
    Glahn, David C.
    Grabe, Hans
    Groenewold, Nynke A.
    Haavik, Jan
    Haberg, Asta
    Hashimoto, Ryota
    Hehir-Kwa, Jayne Y.
    Heinz, Andreas
    Hillegers, Manon H. J.
    Hoffmann, Per
    Holleran, Laurena
    Hottenga, Jouke-Jan
    Hulshoff, Hilleke E.
    Ikeda, Masashi
    Jahanshad, Neda
    Jernigan, Terry
    Jockwitz, Christiane
    Johansson, Stefan
    Jonsdottir, Gudrun A.
    Joensson, Erik G.
    Kahn, Rene
    Kaufmann, Tobias
    Kelly, Sinead
    Kikuchi, Masataka
    Knowles, Emma E. M.
    Kolskar, Knut K.
    Kwok, John B.
    Le Hellard, Stephanie
    Leu, Costin
    Liu, Jingyu
    Lundervold, Astri J.
    Lundervold, Arvid
    Martin, Nicholas G.
    Mather, Karen
    Mathias, Samuel R.
    McCormack, Mark
    McMahon, Katie L.
    McRae, Allan
    Milaneschi, Yuri
    Moreau, Clara
    Morris, Derek
    Mothersill, David
    Muehleisen, Thomas W.
    Murray, Robin
    Nordvik, Jan E.
    Nyberg, Lars
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Loohuis, Loes M. Olde
    Ophoff, Roel
    Paus, Tomas
    Pausova, Zdenka
    Penninx, Brenda
    Peralta, Juan M.
    Pike, Bruce
    Prieto, Carlos
    Pudas, Sara
    Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI). Umeå University, Faculty of Medicine, Department of Integrative Medical Biology (IMB).
    Quinlan, Erin
    Quintana, Daniel S.
    Reinbold, Celine S.
    Marques, Tiago Reis
    Reymond, Alexandre
    Richard, Genevieve
    Rodriguez-Herreros, Borja
    Roiz-Santianez, Roberto
    Rokicki, Jarek
    Rucker, James
    Sachdev, Perminder
    Sanders, Anne-Marthe
    Sando, Sigrid B.
    Schmaal, Lianne
    Schofield, Peter R.
    Schork, Andrew J.
    Schumann, Gunter
    Shin, Jean
    Shumskaya, Elena
    Sisodiya, Sanjay
    Steen, Vidar M.
    Stein, Dan J.
    Steinberg, Stacy
    Strike, Lachlan
    Teumer, Alexander
    Thalamuthu, Anbu
    Tordesillas-Gutierrez, Diana
    Turner, Jessica
    Ueland, Torill
    Uhlmann, Anne
    Ulfarsson, Magnus O.
    van't Ent, Dennis
    van der Meer, Dennis
    van Haren, Neeltje E. M.
    Vaskinn, Anja
    Vassos, Evangelos
    Walters, G. Bragi
    Wang, Yunpeng
    Wen, Wei
    Whelan, Christopher D.
    Wittfeld, Katharina
    Wright, Margie
    Yamamori, Hidenaga
    Zayats, Tetyana
    Agartz, Ingrid
    Westlye, Lars T.
    Jacquemont, Sebastien
    Djurovic, Srdjan
    Stefansson, Hreinn
    Stefansson, Kari
    Thompson, Paul
    Andreassen, Ole A.
    Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia2020In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 25, no 3, p. 584-602Article in journal (Refereed)
    Abstract [en]

    Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.

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  • 7. Strazisar, M
    et al.
    Cammaerts, S
    van der Ven, K
    Forero, DA
    Lenaerts, A-S
    Nordin Adolfsson, Annelie
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
    Almeida-Souza, L
    Genovese, G
    Timmerman, V
    Liekens, A
    De Rijk, P
    Adolfsson, Rolf
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
    Callaerts, P
    Del-Favero, J
    MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets2015In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 20, no 4, p. 472-481Article in journal (Refereed)
    Abstract [en]

    Sequence analysis of 13 microRNA (miRNA) genes expressed in the human brain and located in genomic regions associated with schizophrenia and/or bipolar disorder, in a northern Swedish patient/control population, resulted in the discovery of two functional variants in the MIR137 gene. On the basis of their location and the allele frequency differences between patients and controls, we explored the hypothesis that the discovered variants impact the expression of the mature miRNA and consequently influence global mRNA expression affecting normal brain functioning. Using neuronal-like SH-SY5Y cells, we demonstrated significantly reduced mature miR-137 levels in the cells expressing the variant miRNA gene. Subsequent transcriptome analysis showed that the reduction in miR-137 expression led to the deregulation of gene sets involved in synaptogenesis and neuronal transmission, all implicated in psychiatric disorders. Our functional findings add to the growing data, which implicate that miR-137 has an important role in the etiology of psychiatric disorders and emphasizes its involvement in nervous system development and proper synaptic function.

  • 8. Thorgeirsson, T. E.
    et al.
    Steinberg, S.
    Reginsson, G. W.
    Bjornsdottir, G.
    Rafnar, T.
    Jonsdottir, I.
    Helgadottir, A.
    Gretarsdottir, S.
    Helgadottir, H.
    Jonsson, S.
    Matthiasson, S. E.
    Gislason, T.
    Tyrfingsson, T.
    Gudbjartsson, T.
    Isaksson, H. J.
    Hardardottir, H.
    Sigvaldason, A.
    Kiemeney, L. A.
    Haugen, A.
    Zienolddiny, S.
    Wolf, H. J.
    Franklin, W. A.
    Panadero, A.
    Mayordomo, J. I.
    Hall, I. P.
    Rönmark, Eva
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Occupational and Environmental Medicine. The OLIN studies, Department of Medicine, Sunderby Central Hospital of Norrbotten, Luleå, Sweden.
    Lundback, B.
    Dirksen, A.
    Ashraf, H.
    Pedersen, J. H.
    Masson, G.
    Sulem, P.
    Thorsteinsdottir, U.
    Gudbjartsson, D. F.
    Stefansson, K.
    A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences2016In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 21, no 5, p. 594-600Article in journal (Refereed)
    Abstract [en]

    Using Icelandic whole-genome sequence data and an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for association with nicotine dependence. We show that carriers of a rare missense variant (allele frequency = 0.24%) within CHRNA4, encoding an R336C substitution, have greater risk of nicotine addiction than non-carriers as assessed by the Fagerstrom Test for Nicotine Dependence (P = 1.2 x 10(-4)). The variant also confers risk of several serious smoking-related diseases previously shown to be associated with the D398N substitution in CHRNA5. We observed odds ratios (ORs) of 1.7-2.3 for lung cancer (LC; P = 4.0 x 10(-4)), chronic obstructive pulmonary disease (COPD; P = 9.3 x 10(-4)), peripheral artery disease (PAD; P = 0.090) and abdominal aortic aneurysms (AAAs; P = 0.12), and the variant associates strongly with the early-onset forms of LC (OR = 4.49, P = 2.2 x 10(-4)), COPD (OR = 3.22, P = 2.9 x 10(-4)), PAD (OR = 3.47, P = 9.2 x 10(-3)) and AAA (OR = 6.44, P = 6.3 x 10(-3)). Joint analysis of the four smoking-related diseases reveals significant association (P = 6.8 x 10(-5)), particularly for early-onset cases (P = 2.1 x 10(-7)). Our results are in agreement with functional studies showing that the human alpha 4 beta 2 isoform of the channel containing R336C has less sensitivity for its agonists than the wild-type form following nicotine incubation.

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  • 9. van der Meer, Dennis
    et al.
    Rokicki, Jaroslav
    Kaufmann, Tobias
    Córdova-Palomera, Aldo
    Moberget, Torgeir
    Alnæs, Dag
    Bettella, Francesco
    Frei, Oleksandr
    Doan, Nhat Trung
    Sønderby, Ida E
    Smeland, Olav B
    Agartz, Ingrid
    Bertolino, Alessandro
    Bralten, Janita
    Brandt, Christine L
    Buitelaar, Jan K
    Djurovic, Srdjan
    van Donkelaar, Marjolein
    Dørum, Erlend S
    Espeseth, Thomas
    Faraone, Stephen V
    Fernández, Guillén
    Fisher, Simon E
    Franke, Barbara
    Haatveit, Beathe
    Hartman, Catharina A
    Hoekstra, Pieter J
    Håberg, Asta K
    Jönsson, Erik G
    Kolskår, Knut K
    Le Hellard, Stephanie
    Lund, Martina J
    Lundervold, Astri J
    Lundervold, Arvid
    Melle, Ingrid
    Monereo Sánchez, Jennifer
    Norbom, Linn C
    Nordvik, Jan E
    Nyberg, Lars
    Umeå University, Faculty of Medicine, Department of Radiation Sciences. Umeå University, Faculty of Medicine, Umeå Centre for Functional Brain Imaging (UFBI).
    Oosterlaan, Jaap
    Papalino, Marco
    Papassotiropoulos, Andreas
    Pergola, Giulio
    de Quervain, Dominique J F
    Richard, Geneviève
    Sanders, Anne-Marthe
    Selvaggi, Pierluigi
    Shumskaya, Elena
    Steen, Vidar M
    Tønnesen, Siren
    Ulrichsen, Kristine M
    Zwiers, Marcel P
    Andreassen, Ole A
    Westlye, Lars T
    Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes2018In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578Article in journal (Refereed)
    Abstract [en]

    The hippocampus is a heterogeneous structure, comprising histologically distinguishable subfields. These subfields are differentially involved in memory consolidation, spatial navigation and pattern separation, complex functions often impaired in individuals with brain disorders characterized by reduced hippocampal volume, including Alzheimer's disease (AD) and schizophrenia. Given the structural and functional heterogeneity of the hippocampal formation, we sought to characterize the subfields' genetic architecture. T1-weighted brain scans (n = 21,297, 16 cohorts) were processed with the hippocampal subfields algorithm in FreeSurfer v6.0. We ran a genome-wide association analysis on each subfield, co-varying for whole hippocampal volume. We further calculated the single-nucleotide polymorphism (SNP)-based heritability of 12 subfields, as well as their genetic correlation with each other, with other structural brain features and with AD and schizophrenia. All outcome measures were corrected for age, sex and intracranial volume. We found 15 unique genome-wide significant loci across six subfields, of which eight had not been previously linked to the hippocampus. Top SNPs were mapped to genes associated with neuronal differentiation, locomotor behaviour, schizophrenia and AD. The volumes of all the subfields were estimated to be heritable (h2 from 0.14 to 0.27, all p < 1 × 10-16) and clustered together based on their genetic correlations compared with other structural brain features. There was also evidence of genetic overlap of subicular subfield volumes with schizophrenia. We conclude that hippocampal subfields have partly distinct genetic determinants associated with specific biological processes and traits. Taking into account this specificity may increase our understanding of hippocampal neurobiology and associated pathologies.

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  • 10. van West, D
    et al.
    Del-Favero, J
    Aulchenko, Y
    Oswald, P
    Souery, D
    Forsgren, T
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
    Sluijs, S
    Bel-Kacem, S
    Adolfsson, Rolf
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry.
    Mendlewicz, J
    Van Duijn, C
    Deboutte, D
    Van Broeckhoven, C
    Claes, S
    A major SNP haplotype of the arginine vasopressin 1B receptor protects against recurrent major depression2004In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 9, no 3, p. 287-292Article in journal (Refereed)
    Abstract [en]

    Increasing amounts of data suggest that affective disorders might be related to dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, one of the stress-response systems. Arginine vasopressin (AVP) influences several symptoms, relevant to affective disorders, notable memory processes, pain sensitivity, synchronization of biological rhythms and the timing and quality of REM sleep. We examined whether genetic variations in the AVP receptor 1b gene (AVPR1b) could be associated with increased susceptibility to affective disorders using a gene-based association analysis of single-nucleotide polymorphisms (SNPs). Five SNPs were identified in AVPR1b and genotyped in two well-diagnosed samples of patients with recurrent major depression and matched controls. In the Swedish sample, we observed significant allele (P=0.02) and genotype (P=0.01) association with SNP AVPR1b-s3, and in the Belgian sample, a borderline significant association with SNP AVPR1b-s5 (P=0.04). In both patient-control samples, the haplotype defined by alleles A-T-C-A-G for the AVPR1b-s SNPs s1-s2-s3-s4-s5 was significantly over-represented in controls compared to patients. Our data support a protective effect of this major haplotype for recurrent major depression.

  • 11. van Wingen, G A
    et al.
    van Broekhoven, F
    Verkes, R J
    Petersson, K M
    Bäckström, T
    Umeå University, Faculty of Medicine, Department of Clinical Sciences, Obstetrics and Gynaecology.
    Buitelaar, J K
    Fernández, G
    Progesterone selectively increases amygdala reactivity in women.2008In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 13, no 3, p. 325-33Article in journal (Refereed)
    Abstract [en]

    The acute neural effects of progesterone are mediated by its neuroactive metabolites allopregnanolone and pregnanolone. These neurosteroids potentiate the inhibitory actions of gamma-aminobutyric acid (GABA). Progesterone is known to produce anxiolytic effects in animals, but recent animal studies suggest that pregnanolone increases anxiety after a period of low allopregnanolone concentration. This effect is potentially mediated by the amygdala and related to the negative mood symptoms in humans that are observed during increased allopregnanolone levels. Therefore, we investigated with functional magnetic resonance imaging (MRI) whether a single progesterone administration to healthy young women in their follicular phase modulates the amygdala response to salient, biologically relevant stimuli. The progesterone administration increased the plasma concentrations of progesterone and allopregnanolone to levels that are reached during the luteal phase and early pregnancy. The imaging results show that progesterone selectively increased amygdala reactivity. Furthermore, functional connectivity analyses indicate that progesterone modulated functional coupling of the amygdala with distant brain regions. These results reveal a neural mechanism by which progesterone may mediate adverse effects on anxiety and mood.

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