@article {382, title = {Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers}, journal = {Biological Psychiatry}, year = {2023}, abstract = {

BACKGROUND: The 1q21.1 distal and 15q11.2 BP1-BP2 CNVs exhibit regional and global brain differences compared to non-carriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intra-individual variability measures can be used to test for regional differences beyond global differences in brain structure. METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n=30) and duplication (n=27), and 15q11.2 BP1-BP2 deletion (n=170) and duplication (n=243) carriers and matched non-carriers (n=2,350). Regional intra-deviation (RID) scores i.e., the standardized difference between an individual\&$\#$39;s regional difference and global difference, were used to test for regional differences that diverge from the global difference. RESULTS: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate and temporal pole differed less, and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex and temporal pole differed less, and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness. CONCLUSION: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 CNVs. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 CNVs, with the potential to increase our understanding of mechanisms involved in altered neurodevelopment.

}, keywords = {15q11.2 BP1-BP2, 1q21.1 distal, brain structure, copy number variants, intra-individual variability, magnetic resonance imaging}, doi = {10.1016/j.biopsych.2023.08.018}, author = {Boen, Rune and Kaufmann, Tobias and van der Meer, Dennis and Frei, Oleksandr and Agartz, Ingrid and Ames, David and Andersson, Micael and Armstrong, Nicola J and Artiges, Eric and Atkins, Joshua R and Bauer, Jochen and Benedetti, Francesco and Boomsma, Dorret I and Brodaty, Henry and Brosch, Katharina and Buckner, Randy L and Cairns, Murray J and Calhoun, Vince and Caspers, Svenja and Cichon, Sven and Corvin, Aiden P and Facorro, Benedicto Crespo and Dannlowski, Udo and David, Friederike S and de Geus, Eco J C and de Zubicaray, Greig I and Desrivi{\`e}res, Sylvane and Doherty, Joanne L and Donohoe, Gary and Ehrlich, Stefan and Eising, Else and Espeseth, Thomas and Fisher, Simon E and Forstner, Andreas J and Uy{\`a}, Lidia Fortaner and Frouin, Vincent and Fukunaga, Masaki and Ge, Tian and Glahn, David C and Goltermann, Janik and Grabe, Hans J and Green, Melissa J and Groenewold, Nynke A and Grotegerd, Dominik and Hahn, Tim and Hashimoto, Ryota and Hehir-Kwa, Jayne Y and Henskens, Frans A and Holmes, Avram J and Haberg, Asta K and Haavik, Jan and Jacquemont, S{\'e}bastien and Jansen, Andreas and Jockwitz, Christiane and J{\"o}nsson, Erik G and Kikuchi, Masataka and Kircher, Tilo and Kumar, Kuldeep and Le Hellard, Stephanie and Leu, Costin and Linden, David E and Liu, Jingyu and Loughnan, Robert and Mather, Karen A and McMahon, Katie L and McRae, Allan F and Medland, Sarah E and Meinert, Susanne and Moreau, Clara A and Morris, Derek W and Mowry, Bryan J and M{\"u}hleisen, Thomas W and Nenadi{\'c}, Igor and N{\"o}then, Markus M and Nyberg, Lars and Owen, Michael J and Paolini, Marco and Paus, Tomas and Pausova, Zdenka and Persson, Karin and Quid{\'e}, Yann and Marques, Tiago Reis and Sachdev, Perminder S and Sando, Sigrid B and Schall, Ulrich and Scott, Rodney J and Selb{\ae}k, Geir and Shumskaya, Elena and Silva, Ana I and Sisodiya, Sanjay M and Stein, Frederike and Stein, Dan J and Straube, Benjamin and Streit, Fabian and Strike, Lachlan T and Teumer, Alexander and Teutenberg, Lea and Thalamuthu, Anbupalam and Tooney, Paul A and Tordesillas-Guti{\'e}rrez, Diana and Trollor, Julian N and Ent, Dennis van {\textquoteright}t and van den Bree, Marianne B M and van Haren, Neeltje E M and Vazquez-Bourgon, Javier and V{\"o}lzke, Henry and Wen, Wei and Wittfeld, Katharina and Ching, Christopher R K and Westlye, Lars T and Thompson, Paul M and Bearden, Carrie E and Selmer, Kaja K and Aln{\ae}s, Dag and Andreassen, Ole A and Sonderby, Ida E} } @article {362, title = {1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans}, journal = {Translational Psychiatry}, volume = {11}, year = {2021}, pages = {182}, abstract = {

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48\% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

}, doi = {10.1038/s41398-021-01213-0}, author = {S{\o}nderby, Ida E and van der Meer, Dennis and Moreau, Clara and Kaufmann, Tobias and Walters, G Bragi and Ellegaard, Maria and Abdellaoui, Abdel and Ames, David and Amunts, Katrin and Andersson, Micael and Armstrong, Nicola J and Bernard, Manon and Blackburn, Nicholas B and Blangero, John and Boomsma, Dorret I and Brodaty, Henry and Brouwer, Rachel M and B{\"u}low, Robin and B{\o}en, Rune and Cahn, Wiepke and Calhoun, Vince D and Caspers, Svenja and Ching, Christopher R K and Cichon, Sven and Ciufolini, Simone and Crespo-Facorro, Benedicto and Curran, Joanne E and Dale, Anders M and Dalvie, Shareefa and Dazzan, Paola and de Geus, Eco J C and de Zubicaray, Greig I and de Zwarte, Sonja M C and Desrivi{\`e}res, Sylvane and Doherty, Joanne L and Donohoe, Gary and Draganski, Bogdan and Ehrlich, Stefan and Eising, Else and Espeseth, Thomas and Fejgin, Kim and Fisher, Simon E and Fladby, Tormod and Frei, Oleksandr and Frouin, Vincent and Fukunaga, Masaki and Gareau, Thomas and Ge, Tian and Glahn, David C and Grabe, Hans J and Groenewold, Nynke A and G{\'u}stafsson, {\'O}mar and Haavik, Jan and Haberg, Asta K and Hall, Jeremy and Hashimoto, Ryota and Hehir-Kwa, Jayne Y and Hibar, Derrek P and Hillegers, Manon H J and Hoffmann, Per and Holleran, Laurena and Holmes, Avram J and Homuth, Georg and Hottenga, Jouke-Jan and Hulshoff Pol, Hilleke E and Ikeda, Masashi and Jahanshad, Neda and Jockwitz, Christiane and Johansson, Stefan and J{\"o}nsson, Erik G and J{\o}rgensen, Niklas R and Kikuchi, Masataka and Knowles, Emma E M and Kumar, Kuldeep and Le Hellard, Stephanie and Leu, Costin and Linden, David E J and Liu, Jingyu and Lundervold, Arvid and Lundervold, Astri Johansen and Maillard, Anne M and Martin, Nicholas G and Martin-Brevet, Sandra and Mather, Karen A and Mathias, Samuel R and McMahon, Katie L and McRae, Allan F and Medland, Sarah E and Meyer-Lindenberg, Andreas and Moberget, Torgeir and Modenato, Claudia and S{\'a}nchez, Jennifer Monereo and Morris, Derek W and M{\"u}hleisen, Thomas W and Murray, Robin M and Nielsen, Jacob and Nordvik, Jan E and Nyberg, Lars and Loohuis, Loes M Olde and Ophoff, Roel A and Owen, Michael J and Paus, Tomas and Pausova, Zdenka and Peralta, Juan M and Pike, G Bruce and Prieto, Carlos and Quinlan, Erin B and Reinbold, C{\'e}line S and Marques, Tiago Reis and Rucker, James J H and Sachdev, Perminder S and Sando, Sigrid B and Schofield, Peter R and Schork, Andrew J and Schumann, Gunter and Shin, Jean and Shumskaya, Elena and Silva, Ana I and Sisodiya, Sanjay M and Steen, Vidar M and Stein, Dan J and Strike, Lachlan T and Suzuki, Ikuo K and Tamnes, Christian K and Teumer, Alexander and Thalamuthu, Anbupalam and Tordesillas-Guti{\'e}rrez, Diana and Uhlmann, Anne and Ulfarsson, Magnus O and van {\textquoteright}t Ent, Dennis and van den Bree, Marianne B M and Vanderhaeghen, Pierre and Vassos, Evangelos and Wen, Wei and Wittfeld, Katharina and Wright, Margaret J and Agartz, Ingrid and Djurovic, Srdjan and Westlye, Lars T and Stefansson, Hreinn and Stefansson, Kari and Jacquemont, S{\'e}bastien and Thompson, Paul M and Andreassen, Ole A and ENIGMA-CNV working group} } @article {353, title = {Genetic association study of childhood aggression across raters, instruments, and age}, journal = {Translational Psychiatry}, volume = {11}, year = {2021}, pages = {413}, abstract = {

Childhood aggressive behavior (AGG) has a substantial heritability of around 50\%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31\% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E-06), PCDH7 (P = 2.0E-06), and IPO13 (P = 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44\%) and in retrospectively assessed childhood aggression (variance explained = 0.20\%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range [Formula: see text]: 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = \ -0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range [Formula: see text]: 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.

}, doi = {10.1038/s41398-021-01480-x}, author = {Ip, Hill F and Van der Laan, Camiel M and Krapohl, Eva M L and Brikell, Isabell and S{\'a}nchez-Mora, Cristina and Nolte, Ilja M and St Pourcain, Beate and Bolhuis, Koen and Palviainen, Teemu and Zafarmand, Hadi and Colodro-Conde, Luc{\'\i}a and Gordon, Scott and Zayats, Tetyana and Aliev, Fazil and Jiang, Chang and Wang, Carol A and Saunders, Gretchen and Karhunen, Ville and Hammerschlag, Anke R and Adkins, Daniel E and Border, Richard and Peterson, Roseann E and Prinz, Joseph A and Thiering, Elisabeth and Sepp{\"a}l{\"a}, Ilkka and Vilor-Tejedor, Nat{\`a}lia and Ahluwalia, Tarunveer S and Day, Felix R and Hottenga, Jouke-Jan and Allegrini, Andrea G and Rimfeld, Kaili and Chen, Qi and Lu, Yi and Martin, Joanna and Soler Artigas, Mar{\'\i}a and Rovira, Paula and Bosch, Rosa and Espa{\~n}ol, Gemma and Ramos Quiroga, Josep Antoni and Neumann, Alexander and Ensink, Judith and Grasby, Katrina and Morosoli, Jos{\'e} J and Tong, Xiaoran and Marrington, Shelby and Middeldorp, Christel and Scott, James G and Vinkhuyzen, Anna and Shabalin, Andrey A and Corley, Robin and Evans, Luke M and Sugden, Karen and Alemany, Silvia and Sass, L{\ae}rke and Vinding, Rebecca and Ruth, Kate and Tyrrell, Jess and Davies, Gareth E and Ehli, Erik A and Hagenbeek, Fiona A and de Zeeuw, Eveline and van Beijsterveldt, Toos C E M and Larsson, Henrik and Snieder, Harold and Verhulst, Frank C and Amin, Najaf and Whipp, Alyce M and Korhonen, Tellervo and Vuoksimaa, Eero and Rose, Richard J and Uitterlinden, Andr{\'e} G and Heath, Andrew C and Madden, Pamela and Haavik, Jan and Harris, Jennifer R and Helgeland, {\O}yvind and Johansson, Stefan and Knudsen, Gun Peggy S and Njolstad, Pal Rasmus and Lu, Qing and Rodriguez, Alina and Henders, Anjali K and Mamun, Abdullah and Najman, Jackob M and Brown, Sandy and Hopfer, Christian and Krauter, Kenneth and Reynolds, Chandra and Smolen, Andrew and Stallings, Michael and Wadsworth, Sally and Wall, Tamara L and Silberg, Judy L and Miller, Allison and Keltikangas-J{\"a}rvinen, Liisa and Hakulinen, Christian and Pulkki-R\aaback, Laura and Havdahl, Alexandra and Magnus, Per and Raitakari, Olli T and Perry, John R B and Llop, Sabrina and Lopez-Espinosa, Maria-Jose and B{\o}nnelykke, Klaus and Bisgaard, Hans and Sunyer, Jordi and Lehtim{\"a}ki, Terho and Arseneault, Louise and Standl, Marie and Heinrich, Joachim and Boden, Joseph and Pearson, John and Horwood, L John and Kennedy, Martin and Poulton, Richie and Eaves, Lindon J and Maes, Hermine H and Hewitt, John and Copeland, William E and Costello, Elizabeth J and Williams, Gail M and Wray, Naomi and Jarvelin, Marjo-Riitta and McGue, Matt and Iacono, William and Caspi, Avshalom and Moffitt, Terrie E and Whitehouse, Andrew and Pennell, Craig E and Klump, Kelly L and Burt, S Alexandra and Dick, Danielle M and Reichborn-Kjennerud, Ted and Martin, Nicholas G and Medland, Sarah E and Vrijkotte, Tanja and Kaprio, Jaakko and Tiemeier, Henning and Davey Smith, George and Hartman, Catharina A and Oldehinkel, Albertine J and Casas, Miquel and Ribas{\'e}s, Marta and Lichtenstein, Paul and Lundstr{\"o}m, Sebastian and Plomin, Robert and Bartels, Meike and Nivard, Michel G and Boomsma, Dorret I} } @article {354, title = {Large-scale association analyses identify host factors influencing human gut microbiome composition}, journal = {Nature Genetics}, volume = {53}, year = {2021}, pages = {156{\textendash}165}, abstract = {

To study the effect of host genetics on gut microbiome composition, the MiBioGen consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data from 18,340 individuals (24 cohorts). Microbial composition showed high variability across cohorts: only 9 of 410 genera were detected in more than 95\% of samples. A genome-wide association study of host genetic variation regarding microbial taxa identified 31 loci affecting the microbiome at a genome-wide significant (P \< 5 $\times$ 10-8) threshold. One locus, the lactase (LCT) gene locus, reached study-wide significance (genome-wide association study signal: P = 1.28 $\times$ 10-20), and it showed an age-dependent association with Bifidobacterium abundance. Other associations were suggestive (1.95 $\times$ 10-10 \< P \< 5 $\times$ 10-8) but enriched for taxa showing high heritability and for genes expressed in the intestine and brain. A phenome-wide association study and Mendelian randomization identified enrichment of microbiome trait loci in the metabolic, nutrition and environment domains and suggested the microbiome might have causal effects in ulcerative colitis and rheumatoid arthritis.

}, doi = {10.1038/s41588-020-00763-1}, author = {Kurilshikov, Alexander and Medina-Gomez, Carolina and Bacigalupe, Rodrigo and Radjabzadeh, Djawad and Wang, Jun and Demirkan, Ayse and Le Roy, Caroline I and Raygoza Garay, Juan Antonio and Finnicum, Casey T and Liu, Xingrong and Zhernakova, Daria V and Bonder, Marc Jan and Hansen, Tue H and Frost, Fabian and R{\"u}hlemann, Malte C and Turpin, Williams and Moon, Jee-Young and Kim, Han-Na and L{\"u}ll, Kreete and Barkan, Elad and Shah, Shiraz A and Fornage, Myriam and Szopinska-Tokov, Joanna and Wallen, Zachary D and Borisevich, Dmitrii and Agreus, Lars and Andreasson, Anna and Bang, Corinna and Bedrani, Larbi and Bell, Jordana T and Bisgaard, Hans and Boehnke, Michael and Boomsma, Dorret I and Burk, Robert D and Claringbould, Annique and Croitoru, Kenneth and Davies, Gareth E and van Duijn, Cornelia M and Duijts, Liesbeth and Falony, Gwen and Fu, Jingyuan and van der Graaf, Adriaan and Hansen, Torben and Homuth, Georg and Hughes, David A and Ijzerman, Richard G and Jackson, Matthew A and Jaddoe, Vincent W V and Joossens, Marie and J{\o}rgensen, Torben and Keszthelyi, Daniel and Knight, Rob and Laakso, Markku and Laudes, Matthias and Launer, Lenore J and Lieb, Wolfgang and Lusis, Aldons J and Masclee, Ad A M and Moll, Henriette A and Mujagic, Zlatan and Qibin, Qi and Rothschild, Daphna and Shin, Hocheol and S{\o}rensen, S{\o}ren J and Steves, Claire J and Thorsen, Jonathan and Timpson, Nicholas J and Tito, Raul Y and Vieira-Silva, Sara and V{\"o}lker, Uwe and V{\"o}lzke, Henry and V{\~o}sa, Urmo and Wade, Kaitlin H and Walter, Susanna and Watanabe, Kyoko and Weiss, Stefan and Weiss, Frank U and Weissbrod, Omer and Westra, Harm-Jan and Willemsen, Gonneke and Payami, Haydeh and Jonkers, Daisy M A E and Arias Vasquez, Alejandro and de Geus, Eco J C and Meyer, Katie A and Stokholm, Jakob and Segal, Eran and Org, Elin and Wijmenga, Cisca and Kim, Hyung-Lae and Kaplan, Robert C and Spector, Tim D and Uitterlinden, Andr{\'e} G and Rivadeneira, Fernando and Franke, Andre and Lerch, Markus M and Franke, Lude and Sanna, Serena and D{\textquoteright}Amato, Mauro and Pedersen, Oluf and Paterson, Andrew D and Kraaij, Robert and Raes, Jeroen and Zhernakova, Alexandra} } @article {347, title = {The trans-ancestral genomic architecture of glycemic traits}, journal = {Nature Genetics}, volume = {53}, year = {2021}, pages = {840{\textendash}860}, abstract = {

Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30\% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P \< 5 $\times$ 10-8), 80\% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99\% credible sets by a median of 37.5\%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.

}, doi = {10.1038/s41588-021-00852-9}, author = {Chen, Ji and Spracklen, Cassandra N and Marenne, Ga{\"e}lle and Varshney, Arushi and Corbin, Laura J and Luan, Jian{\textquoteright}an and Willems, Sara M and Wu, Ying and Zhang, Xiaoshuai and Horikoshi, Momoko and Boutin, Thibaud S and M{\"a}gi, Reedik and Waage, Johannes and Li-Gao, Ruifang and Chan, Kei Hang Katie and Yao, Jie and Anasanti, Mila D and Chu, Audrey Y and Claringbould, Annique and Heikkinen, Jani and Hong, Jaeyoung and Hottenga, Jouke-Jan and Huo, Shaofeng and Kaakinen, Marika A and Louie, Tin and M{\"a}rz, Winfried and Moreno-Macias, Hortensia and Ndungu, Anne and Nelson, Sarah C and Nolte, Ilja M and North, Kari E and Raulerson, Chelsea K and Ray, Debashree and Rohde, Rebecca and Rybin, Denis and Schurmann, Claudia and Sim, Xueling and Southam, Lorraine and Stewart, Isobel D and Wang, Carol A and Wang, Yujie and Wu, Peitao and Zhang, Weihua and Ahluwalia, Tarunveer S and Appel, Emil V R and Bielak, Lawrence F and Brody, Jennifer A and Burtt, No{\"e}l P and Cabrera, Claudia P and Cade, Brian E and Chai, Jin Fang and Chai, Xiaoran and Chang, Li-Ching and Chen, Chien-Hsiun and Chen, Brian H and Chitrala, Kumaraswamy Naidu and Chiu, Yen-Feng and de Haan, Hugoline G and Delgado, Graciela E and Demirkan, Ayse and Duan, Qing and Engmann, Jorgen and Fatumo, Segun A and Gay{\'a}n, Javier and Giulianini, Franco and Gong, Jung Ho and Gustafsson, Stefan and Hai, Yang and Hartwig, Fernando P and He, Jing and Heianza, Yoriko and Huang, Tao and Huerta-Chagoya, Alicia and Hwang, Mi Yeong and Jensen, Richard A and Kawaguchi, Takahisa and Kentistou, Katherine A and Kim, Young Jin and Kleber, Marcus E and Kooner, Ishminder K and Lai, Shuiqing and Lange, Leslie A and Langefeld, Carl D and Lauzon, Marie and Li, Man and Ligthart, Symen and Liu, Jun and Loh, Marie and Long, Jirong and Lyssenko, Valeriya and Mangino, Massimo and Marzi, Carola and Montasser, May E and Nag, Abhishek and Nakatochi, Masahiro and Noce, Damia and Noordam, Raymond and Pistis, Giorgio and Preuss, Michael and Raffield, Laura and Rasmussen-Torvik, Laura J and Rich, Stephen S and Robertson, Neil R and Rueedi, Rico and Ryan, Kathleen and Sanna, Serena and Saxena, Richa and Schraut, Katharina E and Sennblad, Bengt and Setoh, Kazuya and Smith, Albert V and Spars{\o}, Thomas and Strawbridge, Rona J and Takeuchi, Fumihiko and Tan, Jingyi and Trompet, Stella and van den Akker, Erik and van der Most, Peter J and Verweij, Niek and Vogel, Mandy and Wang, Heming and Wang, Chaolong and Wang, Nan and Warren, Helen R and Wen, Wanqing and Wilsgaard, Tom and Wong, Andrew and Wood, Andrew R and Xie, Tian and Zafarmand, Mohammad Hadi and Zhao, Jing-Hua and Zhao, Wei and Amin, Najaf and Arzumanyan, Zorayr and Astrup, Arne and Bakker, Stephan J L and Baldassarre, Damiano and Beekman, Marian and Bergman, Richard N and Bertoni, Alain and Bl{\"u}her, Matthias and Bonnycastle, Lori L and Bornstein, Stefan R and Bowden, Donald W and Cai, Qiuyin and Campbell, Archie and Campbell, Harry and Chang, Yi Cheng and de Geus, Eco J C and Dehghan, Abbas and Du, Shufa and Eiriksdottir, Gudny and Farmaki, Aliki Eleni and Fr\aanberg, Mattias and Fuchsberger, Christian and Gao, Yutang and Gjesing, Anette P and Goel, Anuj and Han, Sohee and Hartman, Catharina A and Herder, Christian and Hicks, Andrew A and Hsieh, Chang-Hsun and Hsueh, Willa A and Ichihara, Sahoko and Igase, Michiya and Ikram, M Arfan and Johnson, W Craig and J{\o}rgensen, Marit E and Joshi, Peter K and Kalyani, Rita R and Kandeel, Fouad R and Katsuya, Tomohiro and Khor, Chiea Chuen and Kiess, Wieland and Kolcic, Ivana and Kuulasmaa, Teemu and Kuusisto, Johanna and L{\"a}ll, Kristi and Lam, Kelvin and Lawlor, Deborah A and Lee, Nanette R and Lemaitre, Rozenn N and Li, Honglan and Lifelines Cohort Study and Lin, Shih-Yi and Lindstr{\"o}m, Jaana and Linneberg, Allan and Liu, Jianjun and Lorenzo, Carlos and Matsubara, Tatsuaki and Matsuda, Fumihiko and Mingrone, Geltrude and Mooijaart, Simon and Moon, Sanghoon and Nabika, Toru and Nadkarni, Girish N and Nadler, Jerry L and Nelis, Mari and Neville, Matt J and Norris, Jill M and Ohyagi, Yasumasa and Peters, Annette and Peyser, Patricia A and Polasek, Ozren and Qi, Qibin and Raven, Dennis and Reilly, Dermot F and Reiner, Alex and Rivideneira, Fernando and Roll, Kathryn and Rudan, Igor and Sabanayagam, Charumathi and Sandow, Kevin and Sattar, Naveed and Sch{\"u}rmann, Annette and Shi, Jinxiu and Stringham, Heather M and Taylor, Kent D and Teslovich, Tanya M and Thuesen, Betina and Timmers, Paul R H J and Tremoli, Elena and Tsai, Michael Y and Uitterlinden, Andre and van Dam, Rob M and van Heemst, Diana and van Hylckama Vlieg, Astrid and van Vliet-Ostaptchouk, Jana V and Vangipurapu, Jagadish and Vestergaard, Henrik and Wang, Tao and Willems van Dijk, Ko and Zemunik, Tatijana and Abecasis, Gon\c calo R and Adair, Linda S and Aguilar-Salinas, Carlos Alberto and Alarc{\'o}n-Riquelme, Marta E and An, Ping and Aviles-Santa, Larissa and Becker, Diane M and Beilin, Lawrence J and Bergmann, Sven and Bisgaard, Hans and Black, Corri and Boehnke, Michael and Boerwinkle, Eric and B{\"o}hm, Bernhard O and B{\o}nnelykke, Klaus and Boomsma, D I and Bottinger, Erwin P and Buchanan, Thomas A and Canouil, Micka{\"e}l and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der Ida and Cheng, Ching-Yu and Collins, Francis S and Correa, Adolfo and Cucca, Francesco and de Silva, H Janaka and Dedoussis, George and Elmst\aahl, S{\"o}lve and Evans, Michele K and Ferrannini, Ele and Ferrucci, Luigi and Florez, Jose C and Franks, Paul W and Frayling, Timothy M and Froguel, Philippe and Gigante, Bruna and Goodarzi, Mark O and Gordon-Larsen, Penny and Grallert, Harald and Grarup, Niels and Grimsgaard, Sameline and Groop, Leif and Gudnason, Vilmundur and Guo, Xiuqing and Hamsten, Anders and Hansen, Torben and Hayward, Caroline and Heckbert, Susan R and Horta, Bernardo L and Huang, Wei and Ingelsson, Erik and James, Pankow S and Jarvelin, Marjo-Ritta and Jonas, Jost B and Jukema, J Wouter and Kaleebu, Pontiano and Kaplan, Robert and Kardia, Sharon L R and Kato, Norihiro and Keinanen-Kiukaanniemi, Sirkka M and Kim, Bong-Jo and Kivimaki, Mika and Koistinen, Heikki A and Kooner, Jaspal S and K{\"o}rner, Antje and Kovacs, Peter and Kuh, Diana and Kumari, Meena and Kutalik, Zoltan and Laakso, Markku and Lakka, Timo A and Launer, Lenore J and Leander, Karin and Li, Huaixing and Lin, Xu and Lind, Lars and Lindgren, Cecilia and Liu, Simin and Loos, Ruth J F and Magnusson, Patrik K E and Mahajan, Anubha and Metspalu, Andres and Mook-Kanamori, Dennis O and Mori, Trevor A and Munroe, Patricia B and Nj{\o}lstad, Inger and O{\textquoteright}Connell, Jeffrey R and Oldehinkel, Albertine J and Ong, Ken K and Padmanabhan, Sandosh and Palmer, Colin N A and Palmer, Nicholette D and Pedersen, Oluf and Pennell, Craig E and Porteous, David J and Pramstaller, Peter P and Province, Michael A and Psaty, Bruce M and Qi, Lu and Raffel, Leslie J and Rauramaa, Rainer and Redline, Susan and Ridker, Paul M and Rosendaal, Frits R and Saaristo, Timo E and Sandhu, Manjinder and Saramies, Jouko and Schneiderman, Neil and Schwarz, Peter and Scott, Laura J and Selvin, Elizabeth and Sever, Peter and Shu, Xiao-Ou and Slagboom, P Eline and Small, Kerrin S and Smith, Blair H and Snieder, Harold and Sofer, Tamar and S{\o}rensen, Thorkild I A and Spector, Tim D and Stanton, Alice and Steves, Claire J and Stumvoll, Michael and Sun, Liang and Tabara, Yasuharu and Tai, E Shyong and Timpson, Nicholas J and T{\"o}njes, Anke and Tuomilehto, Jaakko and Tusie, Teresa and Uusitupa, Matti and van der Harst, Pim and van Duijn, Cornelia and Vitart, Veronique and Vollenweider, Peter and Vrijkotte, Tanja G M and Wagenknecht, Lynne E and Walker, Mark and Wang, Ya X and Wareham, Nick J and Watanabe, Richard M and Watkins, Hugh and Wei, Wen B and Wickremasinghe, Ananda R and Willemsen, Gonneke and Wilson, James F and Wong, Tien-Yin and Wu, Jer-Yuarn and Xiang, Anny H and Yanek, Lisa R and Yengo, Lo\"{\i}c and Yokota, Mitsuhiro and Zeggini, Eleftheria and Zheng, Wei and Zonderman, Alan B and Rotter, Jerome I and Gloyn, Anna L and McCarthy, Mark I and Dupuis, Jos{\'e}e and Meigs, James B and Scott, Robert A and Prokopenko, Inga and Leong, Aaron and Liu, Ching-Ti and Parker, Stephen C J and Mohlke, Karen L and Langenberg, Claudia and Wheeler, Eleanor and Morris, Andrew P and Barroso, In{\^e}s and Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)} } @article {333, title = {The genetic architecture of the human cerebral cortex}, journal = {Science}, volume = {367}, year = {2020}, pages = {eaay6690}, abstract = {

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson\&$\#$39;s disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

}, doi = {10.1126/science.aay6690}, author = {Grasby, Katrina L and Jahanshad, Neda and Painter, Jodie N and Colodro-Conde, Luc{\'\i}a and Bralten, Janita and Hibar, Derrek P and Lind, Penelope A and Pizzagalli, Fabrizio and Ching, Christopher R K and McMahon, Mary Agnes B and Shatokhina, Natalia and Zsembik, Leo C P and Thomopoulos, Sophia I and Zhu, Alyssa H and Strike, Lachlan T and Agartz, Ingrid and Alhusaini, Saud and Almeida, Marcio A A and Aln{\ae}s, Dag and Amlien, Inge K and Andersson, Micael and Ard, Tyler and Armstrong, Nicola J and Ashley-Koch, Allison and Atkins, Joshua R and Bernard, Manon and Brouwer, Rachel M and Buimer, Elizabeth E L and B{\"u}low, Robin and B{\"u}rger, Christian and Cannon, Dara M and Chakravarty, Mallar and Chen, Qiang and Cheung, Joshua W and Couvy-Duchesne, Baptiste and Dale, Anders M and Dalvie, Shareefa and de Araujo, T{\^a}nia K and de Zubicaray, Greig I and de Zwarte, Sonja M C and den Braber, Anouk and Doan, Nhat Trung and Dohm, Katharina and Ehrlich, Stefan and Engelbrecht, Hannah-Ruth and Erk, Susanne and Fan, Chun Chieh and Fedko, Iryna O and Foley, Sonya F and Ford, Judith M and Fukunaga, Masaki and Garrett, Melanie E and Ge, Tian and Giddaluru, Sudheer and Goldman, Aaron L and Green, Melissa J and Groenewold, Nynke A and Grotegerd, Dominik and Gurholt, Tiril P and Gutman, Boris A and Hansell, Narelle K and Harris, Mathew A and Harrison, Marc B and Haswell, Courtney C and Hauser, Michael and Herms, Stefan and Heslenfeld, Dirk J and Ho, New Fei and Hoehn, David and Hoffmann, Per and Holleran, Laurena and Hoogman, Martine and Hottenga, Jouke-Jan and Ikeda, Masashi and Janowitz, Deborah and Jansen, Iris E and Jia, Tianye and Jockwitz, Christiane and Kanai, Ryota and Karama, Sherif and Kasperaviciute, Dalia and Kaufmann, Tobias and Kelly, Sinead and Kikuchi, Masataka and Klein, Marieke and Knapp, Michael and Knodt, Annchen R and Kr{\"a}mer, Bernd and Lam, Max and Lancaster, Thomas M and Lee, Phil H and Lett, Tristram A and Lewis, Lindsay B and Lopes-Cendes, Iscia and Luciano, Michelle and Macciardi, Fabio and Marquand, Andre F and Mathias, Samuel R and Melzer, Tracy R and Milaneschi, Yuri and Mirza-Schreiber, Nazanin and Moreira, Jose C V and M{\"u}hleisen, Thomas W and M{\"u}ller-Myhsok, Bertram and Najt, Pablo and Nakahara, Soichiro and Nho, Kwangsik and Olde Loohuis, Loes M and Orfanos, Dimitri Papadopoulos and Pearson, John F and Pitcher, Toni L and P{\"u}tz, Benno and Quid{\'e}, Yann and Ragothaman, Anjanibhargavi and Rashid, Faisal M and Reay, William R and Redlich, Ronny and Reinbold, C{\'e}line S and Repple, Jonathan and Richard, Genevi{\`e}ve and Riedel, Brandalyn C and Risacher, Shannon L and Rocha, Cristiane S and Mota, Nina Roth and Salminen, Lauren and Saremi, Arvin and Saykin, Andrew J and Schlag, Fenja and Schmaal, Lianne and Schofield, Peter R and Secolin, Rodrigo and Shapland, Chin Yang and Shen, Li and Shin, Jean and Shumskaya, Elena and S{\o}nderby, Ida E and Sprooten, Emma and Tansey, Katherine E and Teumer, Alexander and Thalamuthu, Anbupalam and Tordesillas-Guti{\'e}rrez, Diana and Turner, Jessica A and Uhlmann, Anne and Vallerga, Costanza Ludovica and van der Meer, Dennis and van Donkelaar, Marjolein M J and van Eijk, Liza and van Erp, Theo G M and van Haren, Neeltje E M and van Rooij, Daan and van Tol, Marie-Jos{\'e} and Veldink, Jan H and Verhoef, Ellen and Walton, Esther and Wang, Mingyuan and Wang, Yunpeng and Wardlaw, Joanna M and Wen, Wei and Westlye, Lars T and Whelan, Christopher D and Witt, Stephanie H and Wittfeld, Katharina and Wolf, Christiane and Wolfers, Thomas and Wu, Jing Qin and Yasuda, Clarissa L and Zaremba, Dario and Zhang, Zuo and Zwiers, Marcel P and Artiges, Eric and Assareh, Amelia A and Ayesa-Arriola, Rosa and Belger, Aysenil and Brandt, Christine L and Brown, Gregory G and Cichon, Sven and Curran, Joanne E and Davies, Gareth E and Degenhardt, Franziska and Dennis, Michelle F and Dietsche, Bruno and Djurovic, Srdjan and Doherty, Colin P and Espiritu, Ryan and Garijo, Daniel and Gil, Yolanda and Gowland, Penny A and Green, Robert C and H{\"a}usler, Alexander N and Heindel, Walter and Ho, Beng-Choon and Hoffmann, Wolfgang U and Holsboer, Florian and Homuth, Georg and Hosten, Norbert and Jack, Jr, Clifford R and Jang, Mihyun and Jansen, Andreas and Kimbrel, Nathan A and Kolsk\aar, Knut and Koops, Sanne and Krug, Axel and Lim, Kelvin O and Luykx, Jurjen J and Mathalon, Daniel H and Mather, Karen A and Mattay, Venkata S and Matthews, Sarah and Mayoral Van Son, Jaqueline and McEwen, Sarah C and Melle, Ingrid and Morris, Derek W and Mueller, Bryon A and Nauck, Matthias and Nordvik, Jan E and N{\"o}then, Markus M and O{\textquoteright}Leary, Daniel S and Opel, Nils and Martinot, Marie-Laure Paill{\`e}re and Pike, G Bruce and Preda, Adrian and Quinlan, Erin B and Rasser, Paul E and Ratnakar, Varun and Reppermund, Simone and Steen, Vidar M and Tooney, Paul A and Torres, F{\'a}bio R and Veltman, Dick J and Voyvodic, James T and Whelan, Robert and White, Tonya and Yamamori, Hidenaga and Adams, Hieab H H and Bis, Joshua C and Debette, Stephanie and Decarli, Charles and Fornage, Myriam and Gudnason, Vilmundur and Hofer, Edith and Ikram, M Arfan and Launer, Lenore and Longstreth, W T and Lopez, Oscar L and Mazoyer, Bernard and Mosley, Thomas H and Roshchupkin, Gennady V and Satizabal, Claudia L and Schmidt, Reinhold and Seshadri, Sudha and Yang, Qiong and Alzheimer{\textquoteright}s Disease Neuroimaging Initiative and CHARGE Consortium and EPIGEN Consortium and IMAGEN Consortium and SYS Consortium and Parkinson{\textquoteright}s Progression Markers Initiative and Alvim, Marina K M and Ames, David and Anderson, Tim J and Andreassen, Ole A and Arias-Vasquez, Alejandro and Bastin, Mark E and Baune, Bernhard T and Beckham, Jean C and Blangero, John and Boomsma, Dorret I and Brodaty, Henry and Brunner, Han G and Buckner, Randy L and Buitelaar, Jan K and Bustillo, Juan R and Cahn, Wiepke and Cairns, Murray J and Calhoun, Vince and Carr, Vaughan J and Caseras, Xavier and Caspers, Svenja and Cavalleri, Gianpiero L and Cendes, Fernando and Corvin, Aiden and Crespo-Facorro, Benedicto and Dalrymple-Alford, John C and Dannlowski, Udo and de Geus, Eco J C and Deary, Ian J and Delanty, Norman and Depondt, Chantal and Desrivi{\`e}res, Sylvane and Donohoe, Gary and Espeseth, Thomas and Fern{\'a}ndez, Guill{\'e}n and Fisher, Simon E and Flor, Herta and Forstner, Andreas J and Francks, Clyde and Franke, Barbara and Glahn, David C and Gollub, Randy L and Grabe, Hans J and Gruber, Oliver and H\aaberg, Asta K and Hariri, Ahmad R and Hartman, Catharina A and Hashimoto, Ryota and Heinz, Andreas and Henskens, Frans A and Hillegers, Manon H J and Hoekstra, Pieter J and Holmes, Avram J and Hong, L Elliot and Hopkins, William D and Hulshoff Pol, Hilleke E and Jernigan, Terry L and J{\"o}nsson, Erik G and Kahn, Ren{\'e} S and Kennedy, Martin A and Kircher, Tilo T J and Kochunov, Peter and Kwok, John B J and Le Hellard, Stephanie and Loughland, Carmel M and Martin, Nicholas G and Martinot, Jean-Luc and McDonald, Colm and McMahon, Katie L and Meyer-Lindenberg, Andreas and Michie, Patricia T and Morey, Rajendra A and Mowry, Bryan and Nyberg, Lars and Oosterlaan, Jaap and Ophoff, Roel A and Pantelis, Christos and Paus, Tomas and Pausova, Zdenka and Penninx, Brenda W J H and Polderman, Tinca J C and Posthuma, Danielle and Rietschel, Marcella and Roffman, Joshua L and Rowland, Laura M and Sachdev, Perminder S and S{\"a}mann, Philipp G and Schall, Ulrich and Schumann, Gunter and Scott, Rodney J and Sim, Kang and Sisodiya, Sanjay M and Smoller, Jordan W and Sommer, Iris E and St Pourcain, Beate and Stein, Dan J and Toga, Arthur W and Trollor, Julian N and Van der Wee, Nic J A and van {\textquoteright}t Ent, Dennis and V{\"o}lzke, Henry and Walter, Henrik and Weber, Bernd and Weinberger, Daniel R and Wright, Margaret J and Zhou, Juan and Stein, Jason L and Thompson, Paul M and Medland, Sarah E and Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group} } @article {267, title = {ADHD Medication and Substance-Related Problems}, journal = {American Journal of Psychiatry}, volume = {174}, year = {2017}, pages = {877-885}, abstract = {

Objective: substance use disorders are major contributors to excess mortality among individuals with attention deficit hyperactivity disorder (ADHD), yet associations between pharmacological ADHD treatment and substance-related problems remain unclear. This study investigated concurrent and long-term associations between ADHD medication treatment and substance-related events.

Method: the authors analyzed 2005\–2014 commercial health care claims from 2,993,887 (47.2\% female) adolescent and adult ADHD patients. Within-individual analyses compared the risk of substance-related events (i.e., emergency department visits related to substance use disorders) during months in which patients received prescribed stimulant medication or atomoxetine relative to the risk during months in which they did not.

Results: in adjusted within-individual comparisons, relative to periods in which patients did not receive ADHD medication, male patients had 35\% lower odds of concurrent substance-related events when receiving medication (odds ratio=0.65, 95\% CI=0.64\–0.67), and female patients had 31\% lower odds of concurrent substance-related events (odds ratio=0.69, 95\% CI=0.67\–0.71). Moreover, male patients had 19\% lower odds of substance-related events 2 years after medication periods (odds ratio=0.81, 95\% CI=0.78\–0.85), and female patients had 14\% lower odds of substance-related events 2 years after medication periods (odds ratio=0.86, 95\% CI= 0.82\–0.91). Sensitivity analyses supported most findings but were less consistent for long-term associations among women.

Conclusions: these results provide evidence that receiving ADHD medication is unlikely to be associated with greater risk of substance-related problems in adolescence or adulthood. Rather, medication was associated with lower concurrent risk of substance-related events and, at least among men, lower long-term risk of future substance-related events.

}, doi = {10.1176/appi.ajp.2017.16060686}, url = {https://doi.org/10.1176/appi.ajp.2017.16060686}, author = {Quinn, Patrick D. and Chang, Zheng and Hur, Kwan and Gibbons, Robert D. and Benjamin B Lahey and Rickert, Martin E. and Sj{\"o}lander, Arvid and Lichtenstein, Paul and Henrik Larsson and D{\textquoteright}Onofrio, Brian M.} } @article {253, title = {Childhood attention-deficit/hyperactivity disorder symptoms and the development of adolescent alcohol problems: A prospective, population-based study of Swedish twins}, journal = {American Journal of Medical Genetics Part B: Neuropsychiatric Genetics}, volume = {171}, year = {2016}, pages = {958-970}, abstract = {

Children with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of problematic alcohol and other substance use in adolescence. This study used data from an ongoing, prospective, population-based twin study of Swedish children and adolescents to evaluate the extent to which the association between ADHD symptoms and alcohol problems reflects a unique source of genetic or environmental risk related to ADHD versus a broader predisposition to youth externalizing behavior. We used all available data from same-sex monozygotic (MZ) and dizygotic (DZ) twins on ADHD symptoms in childhood (age 9/12; N\ =\ 15,549) and alcohol problems in late adolescence (age 18; N\ =\ 2,564). Consistent with prior longitudinal studies, the phenotypic association between hyperactive/impulsive ADHD symptoms and alcohol problems was small in magnitude, whereas the association for inattentive symptoms was even weaker. Additive genetic influences explained 99.8\% of the association between hyperactive/impulsive symptoms and alcohol problems. Furthermore, we found that the genetic risk specifically associated with hyperactive/impulsive symptoms was attenuated when estimated in the context of externalizing behavior liability during childhood, of which ADHD symptoms were specific expressions. In sensitivity analyses exploring hyperactivity in mid-adolescence, we found a similar pattern of genetic associations. These results are consistent with previous findings of genetically driven overlap in the etiology of ADHD and problematic alcohol use. At least some of this co-occurrence may result from a general predisposition to externalizing behaviors in youth. \© 2015 Wiley Periodicals, Inc.

}, keywords = {ADHD, behavioral genetics, externalizing, neurodevelopmental problems, substance misuse}, doi = {10.1002/ajmg.b.32412}, url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32412}, author = {Quinn, Patrick D. and Erik Pettersson and Lundstr{\"o}m, Sebastian and Anckars{\"a}ter, Henrik and L{\r a}ngstr{\"o}m, Niklas and Gumpert, Clara Hellner and Henrik Larsson and Lichtenstein, Paul and D{\textquoteright}Onofrio, Brian M.} }