Citations 6
Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies
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Eline , Tenconi, Elena , Τσίτσικα, Άρτεμις , Tyszkiewicz‐Nwafor, Marta , Zeggini, Eleftheria , Boden, Joseph M. , Horwood, L. John , Pearson, John F , Werge, Thomas Mears , Parker, Richard , Lichtenstein, Paul , Norring, Claes E. A. , Mortensen, Preben Bo , Biernacka, Joanna M. , Bigdeli, Tim B. , Clarke, Toni‐Kim , Heilmann‐Heimbach, Stefanie , Hoffmann, Per , Lai, Dongbing , Peterson, Roseann Elizabeth , Sanchez-Roige, Sandra , Schwandt, Melanie L. , Sherva, Richard , Strohmaier, Jana , Thomas, Nathaniel , Wedow, Robbee , Boardman, Jason D., Choi, Doo‐Sup , Degenhardt, Louisa J , Hayward, Caroline , Kramer, John R. , Mann, Karl F , Männistö, Satu , Murray, Alison D. , Nurnberger, John I , Scherbaum, Norbert , Treutlein, Jens , Witt, Stephanie H. , Boomsma, Dorret I , Bierut, Laura Jean , Brown, Sandra A. , Costello, E. 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Addiction Biology | February 17, 2020 | Volume: 26 | Issue: 1 | Pages: No page available
Abstract Eating disorders and substance use disorders frequently co‐occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [ r g ], twin‐based = 0.23‐0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome‐wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance‐use‐related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism‐based genetic correlations between eating disorder‐ and substance‐use‐related phenotypes. Significant positive genetic associations emerged between AUD and AN ( r g = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN ( r g = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating ( r g = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating ( r gs = −0.19 to −0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co‐varying for major depressive disorder loci. The patterns of association between eating disorder‐ and substance‐use‐related phenotypes highlights the potentially complex and substance‐specific relationships among these behaviors.
A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia
Chen, Xu , Gustafsson, Stefan , Whitington, Thomas, Borné, Yan , Lorentzen, Erik , Sun, Jitong , Almgren, Peter , Su, Jun , Lu, Yi , Zhan, Yiqiang , Hägg, Sara , Svensson, Per , Smedby, Karin E. , Lindgren, Cecilia M. , Morris, Andrew P. , Melander, Olle , Karlsson, Thomas , Fairé, Ulf dé , Lind, Lars , Pedersen, Nancy L. , Magnusson, Patrik K. E. , Lu, Yi , Karlsson, Robert , Song, Jie , Slager, Susan L. , Ingelsson, Erik , Caidahl, Kenneth , Engström, Gunnar , Karlsson, Mikael C. I. , Frostegård, Johan
Human Molecular Genetics | March 14, 2018 | Volume: 27 | Issue: 10 | Pages: 1809-1818
Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk
Walsh, Kyle M. , Codd, Veryan , Rice, Terri, Nelson, Christopher P. , Smirnov, Ivan, McCoy, Lucie , Hansen, Helen M. , Elhauge, Edward, Ojha, Juhi, Francis, Stephen , Madsen, Nils R., Bracci, Paige M. , Pico, Alexander R. , Molinaro, Annette M, Tihan, Tarık , Chang, Susan M. , Prados, Michael D. , Jenkins, Robert B. , Wiemels, Joseph L. , Samani, Nilesh J. , Wrensch, Margaret , Duijn, Cornelia M. van , Mägi, Reedik , Prokopenko, Inga , Magnusson, Patrik K. E. , Nyholt, Dale R. , Peters, Annette , Beekman, Marian , Houwing‐Duistermaat, Jeanine J. , Slagboom, P. Eline , Norata, Giuseppe Danilo , Berger, Mitchel S. , Chang, Susan Marina , Wiencke, John K. , van Duijn, Cornelia M , Codd, Veryan , Nelson, Christopher P , Francis, Stephen S , Norata, G Danilo
Oncotarget | December 31, 2015 | Volume: 6 | Issue: 40 | Pages: 42468-42477
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts
Ek, Weronica E. , Reznichenko, Anna, Ripke, Stephan , Niesler, Beate , Zucchelli, Marco, Rivera, Natalia V. , Schmidt, Peter T. , Magnusson, Patrik K. E. , Talley, Nicholas J., Holliday, Elizabeth G, Houghton, Lesley A. , Karamanolis, George, Rappold, Gudrun , Burwinkel, Barbara , Surowy, Harald , Rafter, Joseph, Assadi, Ghazaleh , Li, Ling , Papadaki, Evangelia, Gambaccini, Dario , Marchi, Santino , Colucci, Rocchina , Blandizzi, Corrado , Barbaro, Maria Raffaella , Törnblom, Hans , Bresso, Francesca , Andréasson, Anna , Dlugosz, Aldona , Agréus, Lars , Lindberg, Greger , Bellini, Massimo , Stanghellini, Vincenzo , Barbara, Giovanni , Camilleri, Michael , Wouters, Mira M. , D’Amato, Mauro , Houghton, Lesley, Ripke, Stephan , Pedersen, Nancy L. , Holliday, Elizabeth G, Gazouli, Maria , Karling, Pontus , Walter, Susanna , Ohlsson, Bodil , Simrén, Magnus , Boeckxstaens, Guy E. , Daly, Mark J. , D'Amato, Mauro , Houghton, L A
Gut | September 24, 2014 | Volume: 64 | Issue: 11 | Pages: 1774-1782
Objective IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies. Design We conducted a GWA study (GWAS) of IBS in a general population sample of 11 326 Swedish twins. IBS cases (N=534) and asymptomatic controls (N=4932) were identified based on questionnaire data. Suggestive association signals were followed-up in 3511 individuals from six case-control cohorts. We sought genotype-gene expression correlations through single nucleotide polymorphism (SNP)-expression quantitative trait loci interactions testing, and performed in silico prediction of gene function. We compared candidate gene expression by real-time qPCR in rectal mucosal biopsies of patients with IBS and controls. Results One locus at 7p22.1, which includes the genes KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31×10 −6 in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. Conclusions Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations.
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
Perry, John R. B. , Hsu, Yi-Hsiang, Johnson, Andrew D. , Elks, Cathy E., Albrecht, Eva, Andrulis, Irene L. , Berenson, Gerald S., Bojesen, Stig E. , Bolla, Manjeet K. , Brown, Judith, Buring, Julie E. , Campbell, Harry, Chang‐Claude, Jenny , Chenevix‐Trench, Georgia , Corre, Tanguy , Cox, Angela , Czene, Kamila , D’Adamo, Pio , Davies, Gail , Deary, Ian J. , Easton, Douglas F. , Engelhardt, Ellen G. , Eriksson, Johan G. , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik, Fraser, Abigail , García‐Closas, Montserrat , Gasparini, Paolo , Gieger, Christian , Giles, Graham G. , Guénel, Pascal , Hägg, Sara , Hayward, Caroline , Hopper, John L. , investigators, kConFab, Kardia, Sharon L. R., Kasiman, Katherine, Knight, Julia A. , Lahti, Jari , Lawlor, Debbie A. , Magnusson, Patrik K. E. , Margolin, Sara , Marsh, Julie , Polašek, Ozren , Rahman, Iffat , Ridker, Paul M., Robino, Antonietta , Rudan, Igor , Salumets, Andres , Schmidt, Marjanka K. , Schoemaker, Minouk J. , Smith, Erin N. , Smith, Jennifer A. , Southey, Melissa C. , Stöckl, Doris, Swerdlow, Anthony J. , Thompson, Deborah J. , Truong, Thérèse , Ulivi, Sheila , Waldenberger, Mélanie , Wang, Qin , Wright, Alan F., Zgaga, Lina , Karasik, David , Murray, Anna , Uitterlinden, André G. , Hsu, Yi‐Hsiang , Chasman, Daniel I. , Beesley, Jonathan , Bergmann, Sven M. , Couch, Fergus J. , Dennis, Joe , Esko, Tõnu , Hall, Per N , Ingelsson, Erik , investigators, kConFab, Metspalu, Andres , Olson, Janet E. , Pennell, Craig Edward , Rudolph, Anja , Wild, Sarah H. , Wilson, James Fox , Ong, Ken K. , Murabito, Joanne M. , Giles, Graham G , Swerdlow, Anthony J , Smith, Jennifer A , Southey, Melissa C , Cox, Angela , Guénel, Pascal , García-Closas, Montserrat , Schmidt, Marjanka K , Chenevix-Trench, Georgia , Figueroa, Jonine D , Czene, Kamila , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese
Human Molecular Genetics | December 20, 2013 | Volume: 23 | Issue: 9 | Pages: 2490-2497
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
Rietveld, Cornelius A. , Medland, Sarah E. , Derringer, Jaime , Esko, Tõnu , Martín, Nicolás W., Westra, Harm-Jan , Shakhbazov, Konstantin, Abdellaoui, Abdel , Albrecht, Eva, Alizadeh, Behrooz Z. , Amin, Najaf , Baumeister, Sebastian E. , Benke, Kelly S. , Bielak, Lawrence F. , Boatman, Jeffrey A. , Boyle, Patricia A. , Davies, Gail , Leeuw, Christiaan de , Eklund, Niina, Evans, Daniel S. , Ferhmann, Rudolf, Fischer, Krista , Gieger, Christian , Gjessing, Håkon K. , Hägg, Sara , Harris, Jennifer R. , Hayward, Caroline , Jacobsson, Bo , Joshi, Peter K. , Jugessur, Astanand , Kaakinen, Marika , Kanoni, Stavroula , Karjalainen, Juha, Kolčić, Ivana , Kristiansson, Kati , Kutalik, Zoltán , Lahti, Jari , Lee, Sang , Lin, Peng, Lind, Penelope A. , Lohman, Kurt, Loitfelder, Marisa, McMahon, George, Marques‐Vidal, Pedro , Meirelles, Osorio , Milani, Lili , Myhre, Ronny , Nuotio, Marja-Liisa , Oldmeadow, Christopher , Petrovic, Katja, Peyrot, Wouter J. , Polašek, Ozren , Quaye, Lydia, Reinmaa, Eva, Rice, John P. , Rizzi, Thais S., Schmidt, Helena , Schmidt, Reinhold, Smith, Albert V. , Smith, Jennifer A. , Terracciano, Antonio , Loos, Matthijs J. H. M. van der, Vitart, Véronique , Völzke, Henry , Wellmann, Jürgen , Yu, Lei , Zhao, Wei , Allïk, Jüri , Bandinelli, Stefania , Bastardot, François , Beauchamp, Jonathan , Bennett, David A. , Berger, Klaus, Bültmann, Ute , Campbell, Harry, Chabris, Christopher F., Cherkas, Lynn, Chung, Mina K. , Cucca, Francesco , Jager, Philip L. De , Neve, Jan-Emmanuel De, Deary, Ian J. , Dedoussis, George , Deloukas, Panos , Dimitriou, Maria , Eiríksdóttir, Guðný , Elderson, Martin F., Eriksson, Johan G. , Evans, David M. , Faul, Jessica D. , Ferrucci, Luigi , Garcia, Melissa E., Grönberg, Henrik , Guðnason, Vilmundur , Harris, Tamara B., Hastie, Nicholas D. , Hernández, Dena , Hoffmann, Wolfgang , Hofman, Adriaan, Holle, Rolf , Holliday, Elizabeth G., Hottenga, Jouke‐Jan , Illig, Thomas, Järvelin, Marjo‐Riitta , Kähönen, Mika , Kaprio, Jaakko , Kirkpatrick, Robert M. , Kowgier, Matthew , Latvala, Antti , Lawlor, Debbie A. , Lehtimäki, Terho , Li, Jingmei , Lichtenstein, Paul , Lichtner, Peter , Liewald, David C. , Madden, Pamela A. F., Magnusson, Patrik K. E. , Mäkinen, Tomi E., Masala, Marco , McGue, Matt , Mielck, Andreas, Miller, Michael B., Montgomery, Grant W. , Mukherjee, Sutapa , Nyholt, Dale R. , Oostra, Ben A., Palmer, Lyle J. , Palotie, Aarno , Perola, Markus, Peyser, Patricia A. , Preisig, Martin , Räikkönen, Katri , Rivadeneira, Fernando , Rudan, Igor , Rustichini, Aldo , Sarin, Antti-Pekka, Schlessinger, David, Scott, Rodney J. , Snieder, Harold , Pourcain, Beaté St , Starr, John M. , Sul, Jae Hoon , Surakka, Ida , Svento, Rauli , Teumer, Alexander , Study, The LifeLines Cohort, Tiemeier, Henning , Rooij, Frank J.A. van , Wagoner, David R. Van , Vartiainen, Erkki , Viikari, Jorma , Vollenweider, Péter , Vonk, Judith M. , Waeber, Gérard , Weir, David R. , Wichmann, H.‐Erich , Widén, Elisabeth , Willemsen, Gonneke , Wright, Alan F., Davey-Smith, George, Franke, Lude , Groenen, Patrick J. F. , Hofman, Albert , Johannesson, Magnus , Kardia, Sharon L. R., Krueger, Robert F., Laibson, David, Martin, Nicholas G. , Meyer, Michelle N., Posthuma, Daniëlle , Thurik, Roy , Timpson, Nicholas J. , Uitterlinden, André G. , Duijn, Cornelia M. van , Visscher, Peter M. , Benjamin, Daniel J. , Cesarini, David , Koellinger, Philipp , Bennett, David A. , Smith, George Davey , Meyer, Michelle N. , Westra, Harm-Jan , Yang, Jian , Agrawal, Arpana , Barnard, John , Holzapfel, Christina M. , Ibrahim‐Verbaas, Carla A. , Ingelsson, Erik , Lin, Peng, Liu, Ching‐Ti , Tanaka, Toshiko , Attia, John , Berger, Klaus, Bierut, Laura Jean , Boomsma, Dorret I , Andrade, Mariza de , Hall, Per N , Harris, Juliette , Heath, Andrew C. , Hofman, Adriaan, Holliday, Elizabeth G., Iacono, William G. , Launer, Lenore J. , Mäkinen, Tomi E., Metspalu, Andres , Palotie, Aarno V. , Penninx, Brenda W.J.H. , Raitakari, Olli Tuomas , Realo, Anu , Ring, Susan M. , Ripatti, Samuli , Salomaa, Veikko , Study, The LifeLines Cohort, Wilson, James Fox , Conley, Dalton , Davey-Smith, George, Smith, Jennifer A , Hottenga, Jouke-Jan , Martin, Nicholas G , Posthuma, Danielle , St Pourcain, Beate , Medland, Sarah E , Li, Jingmei , Teumer, Alexander , van Duijn, Cornelia M , Smith, Albert V , Ferrucci, Luigi , Davey Smith, George , Vonk, Judith M , Kanoni, Stavroula , Surakka, Ida
Science | May 31, 2013 | Volume: 340 | Issue: 6139 | Pages: 1467-1471
Genetic College Many genomic elements in humans are associated with behavior, including educational attainment. In a genome-wide association study including more than 100,000 samples, Rietveld et al. (p. 1467 , published online 30 May; see the Perspective by Flint and Munafò ) looked for genes related to educational attainment in Caucasians. Small genetic effects at three loci appeared to impact educational attainment.