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157 results on '"Potash, J. B."'

2. The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects

Author

Peyrot, W J, Lee, S H, Milaneschi, Y, Abdellaoui, A, Byrne, E M, Esko, T, de Geus, E J C, Hemani, G, Hottenga, J J, Kloiber, S, Levinson, D F, Lucae, S, Martin, N G, Medland, S E, Metspalu, A, Milani, L, Noethen, M M, Potash, J B, Rietschel, M, Rietveld, C A, Ripke, S, Shi, J, Willemsen, G, Zhu, Z, Boomsma, D I, Wray, N R, and Penninx, B W J H

Published
2015
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5. The association between lower educational attainment and depression owing to shared genetic effects? Results in ~ 25 000 subjects

Author

Peyrot, W J, Lee, S H, Milaneschi, Y, Abdellaoui, A, Byrne, E M, Esko, T, de Geus, E JC, Hemani, G, Hottenga, J J, Kloiber, S, Levinson, D F, Lucae, S, Martin, N G, Medland, S E, Metspalu, A, Milani, L, Noethen, M M, Potash, J B, Rietschel, M, Rietveld, C A, Ripke, S, Shi, J, Willemsen, G, Zhu, Z, Boomsma, D I, Wray, N R, and Penninx, B WJH

Published
2015
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7. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

Author

Gamazon, E R, Badner, J A, Cheng, L, Zhang, C, Zhang, D, Cox, N J, Gershon, E S, Kelsoe, J R, Greenwood, T A, Nievergelt, C M, Chen, C, McKinney, R, Shilling, P D, Schork, N J, Smith, E N, Bloss, C S, Nurnberger, J I, Edenberg, H J, Foroud, T, Koller, D L, Scheftner, W A, Coryell, W, Rice, J, Lawson, W B, Nwulia, E A, Hipolito, M, Byerley, W, McMahon, F J, Schulze, T G, Berrettini, W H, Potash, J B, Zandi, P P, Mahon, P B, McInnis, M G, Zöllner, S, Zhang, P, Craig, D W, Szelinger, S, Barrett, T B, and Liu, C

Published
2013
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8. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms

Author

Badner, J A, Koller, D, Foroud, T, Edenberg, H, Nurnberger, Jr, J I, Zandi, P P, Willour, V L, McMahon, F J, Potash, J B, Hamshere, M, Grozeva, D, Green, E, Kirov, G, Jones, I, Jones, L, Craddock, N, Morris, D, Segurado, R, Gill, M, Sadovnick, D, Remick, R, Keck, P, Kelsoe, J, Ayub, M, MacLean, A, Blackwood, D, Liu, C-Y, Gershon, E S, McMahon, W, Lyon, G J, Robinson, R, Ross, J, and Byerley, W

Published
2012
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9. A genome-wide association study of attempted suicide

Author

Willour, V L, Seifuddin, F, Mahon, P B, Jancic, D, Pirooznia, M, Steele, J, Schweizer, B, Goes, F S, Mondimore, F M, MacKinnon, D F, Perlis, R H, Lee, P H, Huang, J, Kelsoe, J R, Shilling, P D, Rietschel, M, Nöthen, M, Cichon, S, Gurling, H, Purcell, S, Smoller, J W, Craddock, N, DePaulo, Jr, J R, Schulze, T G, McMahon, F J, Zandi, P P, and Potash, J B

Published
2012
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13. Genome-wide association study of bipolar disorder in European American and African American individuals

Author

Smith, E N, Bloss, C S, Badner, J A, Barrett, T, Belmonte, P L, Berrettini, W, Byerley, W, Coryell, W, Craig, D, Edenberg, H J, Eskin, E, Foroud, T, Gershon, E, Greenwood, T A, Hipolito, M, Koller, D L, Lawson, W B, Liu, C, Lohoff, F, McInnis, M G, McMahon, F J, Mirel, D B, Murray, S S, Nievergelt, C, Nurnberger, J, Nwulia, E A, Paschall, J, Potash, J B, Rice, J, Schulze, T G, Scheftner, W, Panganiban, C, Zaitlen, N, Zandi, P P, Zöllner, S, Schork, N J, and Kelsoe, J R

Published
2009
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14. Singleton deletions throughout the genome increase risk of bipolar disorder

Author

Zhang, D, Cheng, L, Qian, Y, Alliey-Rodriguez, N, Kelsoe, J R, Greenwood, T, Nievergelt, C, Barrett, T B, McKinney, R, Schork, N, Smith, E N, Bloss, C, Nurnberger, J, Edenberg, H J, Foroud, T, Sheftner, W, Lawson, W B, Nwulia, E A, Hipolito, M, Coryell, W, Rice, J, Byerley, W, McMahon, F, Schulze, T G, Berrettini, W, Potash, J B, Belmonte, P L, Zandi, P P, McInnis, M G, Zöllner, S, Craig, D, Szelinger, S, Koller, D, Christian, S L, Liu, C, and Gershon, E S

Published
2009
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20. Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12

Author

McInnis, M G, Lan, T-H, Willour, V L, McMahon, F J, Simpson, S G, Addington, A M, MacKinnon, D F, Potash, J B, Mahoney, A T, Chellis, J, Huo, Y, Swift-Scanlan, T, Chen, H, Koskela, R, Colin Stine, O, Jamison, K R, Holmans, P, Folstein, S E, Ranade, K, Friddle, C, Botstein, D, Marr, T, Beaty, T H, Zandi, P, and Raymond DePaulo, J

Published
2003
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23. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Author

Czamara, D. (Darina), Eraslan, G. (Goekcen), Page, C. M. (Christian M.), Lahti, J. (Jari), Lahti-Pulkkinen, M. (Marius), Hamalainen, E. (Esa), Kajantie, E. (Eero), Laivuori, H. (Hannele), Villa, P. M. (Pia M.), Reynolds, R. M. (Rebecca M.), Nystad, W. (Wenche), Haberg, S. E. (Siri E.), London, S. J. (Stephanie J.), O'Donnell, K. J. (Kieran J.), Garg, E. (Elika), Meaney, M. J. (Michael J.), Entringer, S. (Sonja), Wadhwa, P. D. (Pathik D.), Buss, C. (Claudia), Jones, M. J. (Meaghan J.), Lin, D. T. (David T. S.), MacIsaac, J. L. (Julie L.), Kobor, M. S. (Michael S.), Koen, N. (Nastassja), Zar, H. J. (Heather J.), Koenen, K. C. (Karestan C.), Dalvie, S. (Shareefa), Stein, D. J. (Dan J.), Kondofersky, I. (Ivan), Mueller, N. S. (Nikola S.), Theis, F. J. (Fabian J.), Raikkonen, K. (Katri), Binder, E. B. (Elisabeth B.), Wray, N. R. (Naomi R.), Ripke, S. (Stephan), Mattheisen, M. (Manuel), Trzaskowski, M. (Maciej), Byrne, E. M. (Enda M.), Abdellaoui, A. (Abdel), Adams, M. J. (Mark J.), Agerbo, E. (Esben), Air, T. M. (Tracy M.), Andlauer, T. F. (Till F. M.), Bacanu, S.-A. (Silviu-Alin), Baekvad-Hansen, M. (Marie), Beekman, A. T. (Aartjan T. F.), Bigdeli, T. B. (Tim B.), Blackwood, D. H. (Douglas H. R.), Bryois, J. (Julien), Buttenschon, H. N. (Henriette N.), Bybjerg-Grauholm, J. (Jonas), Cai, N. (Na), Castelao, E. (Enrique), Christensen, J. H. (Jane Hvarregaard), Clarke, T.-K. (Toni-Kim), Coleman, J. R. (Jonathan R., I), Colodro-Conde, L. (Lucia), Couvy-Duchesne, B. (Baptiste), Craddock, N. (Nick), Crawford, G. E. (Gregory E.), Davies, G. (Gail), Deary, I. J. (Ian J.), Degenhardt, F. (Franziska), Derks, E. M. (Eske M.), Direk, N. (Nese), Dolan, C. V. (Conor, V), Dunn, E. C. (Erin C.), Eley, T. C. (Thalia C.), Escott-Price, V. (Valentina), Kiadeh, F. F. (Farnush Farhadi Hassan), Finucane, H. K. (Hilary K.), Forstner, A. J. (Andreas J.), Frank, J. (Josef), Gaspar, H. A. (Helena A.), Gill, M. (Michael), Goes, F. S. (Fernando S.), Gordon, S. D. (Scott D.), Grove, J. (Jakob), Hall, L. S. (Lynsey S.), Hansen, C. S. (Christine Soholm), Hansen, T. F. (Thomas F.), Herms, S. (Stefan), Hickie, I. B. (Ian B.), Hoffmann, P. (Per), Homuth, G. (Georg), Horn, C. (Carsten), Hottenga, J.-J. (Jouke-Jan), Hougaard, D. M. (David M.), Ising, M. (Marcus), Jansen, R. (Rick), Jorgenson, E. (Eric), Knowles, J. A. (James A.), Kohane, I. S. (Isaac S.), Kraft, J. (Julia), Kretzschmar, W. W. (Warren W.), Krogh, J. (Jesper), Kutalik, Z. (Zoltan), Li, Y. (Yihan), Lind, P. A. (Penelope A.), MacIntyre, D. J. (Donald J.), MacKinnon, D. F. (Dean F.), Maier, R. M. (Robert M.), Maier, W. (Wolfgang), Marchini, J. (Jonathan), Mbarek, H. (Hamdi), McGrath, P. (Patrick), McGuffin, P. (Peter), Medland, S. E. (Sarah E.), Mehta, D. (Divya), Middeldorp, C. M. (Christel M.), Mihailov, E. (Evelin), Milaneschi, Y. (Yuri), Milani, L. (Lili), Mondimore, F. M. (Francis M.), Montgomery, G. W. (Grant W.), Mostafavi, S. (Sara), Mullins, N. (Niamh), Nauck, M. (Matthias), Ng, B. (Bernard), Nivard, M. G. (Michel G.), Nyholt, D. R. (Dale R.), O'Reilly, P. F. (Paul F.), Oskarsson, H. (Hogni), Owen, M. J. (Michael J.), Painter, J. N. (Jodie N.), Pedersen, C. B. (Carsten Bocker), Pedersen, M. G. (Marianne Girtz), Peterson, R. E. (Roseann E.), Pettersson, E. (Erik), Peyrot, W. J. (Wouter J.), Pistis, G. (Giorgio), Posthuma, D. (Danielle), Quiroz, J. A. (Jorge A.), Qvist, P. (Per), Rice, J. P. (John P.), Riley, B. P. (Brien P.), Rivera, M. (Margarita), Mirza, S. S. (Saira Saeed), Schoevers, R. (Robert), Schulte, E. C. (Eva C.), Shen, L. (Ling), Shi, J. (Jianxin), Shyn, S. I. (Stanley, I), Sigurdsson, E. (Engilbert), Sinnamon, G. C. (Grant C. B.), Smit, J. H. (Johannes H.), Smith, D. J. (Daniel J.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Streit, F. (Fabian), Strohmaier, J. (Jana), Tansey, K. E. (Katherine E.), Teismann, H. (Henning), Teumer, A. (Alexander), Thompson, W. (Wesley), Thomson, P. A. (Pippa A.), Thorgeirsson, T. E. (Thorgeir E.), Traylor, M. (Matthew), Treutlein, J. (Jens), Trubetskoy, V. (Vassily), Uitterlinden, A. G. (Andre G.), Umbricht, D. (Daniel), Van der Auwera, S. (Sandra), van Hemert, A. M. (Albert M.), Viktorin, A. (Alexander), Visscher, P. M. (Peter M.), Wang, Y. (Yunpeng), Webb, B. T. (Bradley T.), Weinsheimer, S. M. (Shantel Marie), Wellmann, J. (Juergen), Willemsen, G. (Gonneke), Witt, S. H. (Stephanie H.), Wu, Y. (Yang), Xi, H. S. (Hualin S.), Yang, J. (Jian), Zhang, F. (Futao), Arolt, V. (Volker), Baune, B. T. (Bernhard T.), Berger, K. (Klaus), Boomsma, D. I. (Dorret, I), Cichon, S. (Sven), Dannlowski, U. (Udo), de Geus, E. J. (E. J. C.), DePaulo, J. R. (J. Raymond), Domenici, E. (Enrico), Domschke, K. (Katharina), Esko, T. (Tonu), Grabe, H. J. (Hans J.), Hamilton, S. P. (Steven P.), Hayward, C. (Caroline), Heath, A. C. (Andrew C.), Kendler, K. S. (Kenneth S.), Kloiber, S. (Stefan), Lewis, G. (Glyn), Li, Q. S. (Qingqin S.), Lucae, S. (Susanne), Madden, P. A. (Pamela A. F.), Magnusson, P. K. (Patrik K.), Martin, N. G. (Nicholas G.), McIntosh, A. M. (Andrew M.), Metspalu, A. (Andres), Mors, O. (Ole), Mortensen, P. B. (Preben Bo), Mueller-Myhsok, B. (Bertram), Nordentoft, M. (Merete), Noethen, M. M. (Markus M.), O'Donovan, M. C. (Michael C.), Paciga, S. A. (Sara A.), Pedersen, N. L. (Nancy L.), Penninx, B. W. (Brenda W. J. H.), Perlis, R. H. (Roy H.), Porteous, D. J. (David J.), Potash, J. B. (James B.), Preisig, M. (Martin), Rietschel, M. (Marcella), Schaefer, C. (Catherine), Schulze, T. G. (Thomas G.), Smoller, J. W. (Jordan W.), Stefansson, K. (Kari), Tiemeier, H. (Henning), Uher, R. (Rudolf), Voelzke, H. (Henry), Weissman, M. M. (Myrna M.), Werge, T. (Thomas), Lewis, C. M. (Cathryn M.), Levinson, D. F. (Douglas F.), Breen, G. (Gerome), Borglum, A. D. (Anders D.), Sullivan, P. F. (Patrick F.), Czamara, D. (Darina), Eraslan, G. (Goekcen), Page, C. M. (Christian M.), Lahti, J. (Jari), Lahti-Pulkkinen, M. (Marius), Hamalainen, E. (Esa), Kajantie, E. (Eero), Laivuori, H. (Hannele), Villa, P. M. (Pia M.), Reynolds, R. M. (Rebecca M.), Nystad, W. (Wenche), Haberg, S. E. (Siri E.), London, S. J. (Stephanie J.), O'Donnell, K. J. (Kieran J.), Garg, E. (Elika), Meaney, M. J. (Michael J.), Entringer, S. (Sonja), Wadhwa, P. D. (Pathik D.), Buss, C. (Claudia), Jones, M. J. (Meaghan J.), Lin, D. T. (David T. S.), MacIsaac, J. L. (Julie L.), Kobor, M. S. (Michael S.), Koen, N. (Nastassja), Zar, H. J. (Heather J.), Koenen, K. C. (Karestan C.), Dalvie, S. (Shareefa), Stein, D. J. (Dan J.), Kondofersky, I. (Ivan), Mueller, N. S. (Nikola S.), Theis, F. J. (Fabian J.), Raikkonen, K. (Katri), Binder, E. B. (Elisabeth B.), Wray, N. R. (Naomi R.), Ripke, S. (Stephan), Mattheisen, M. (Manuel), Trzaskowski, M. (Maciej), Byrne, E. M. (Enda M.), Abdellaoui, A. (Abdel), Adams, M. J. (Mark J.), Agerbo, E. (Esben), Air, T. M. (Tracy M.), Andlauer, T. F. (Till F. M.), Bacanu, S.-A. (Silviu-Alin), Baekvad-Hansen, M. (Marie), Beekman, A. T. (Aartjan T. F.), Bigdeli, T. B. (Tim B.), Blackwood, D. H. (Douglas H. R.), Bryois, J. (Julien), Buttenschon, H. N. (Henriette N.), Bybjerg-Grauholm, J. (Jonas), Cai, N. (Na), Castelao, E. (Enrique), Christensen, J. H. (Jane Hvarregaard), Clarke, T.-K. (Toni-Kim), Coleman, J. R. (Jonathan R., I), Colodro-Conde, L. (Lucia), Couvy-Duchesne, B. (Baptiste), Craddock, N. (Nick), Crawford, G. E. (Gregory E.), Davies, G. (Gail), Deary, I. J. (Ian J.), Degenhardt, F. (Franziska), Derks, E. M. (Eske M.), Direk, N. (Nese), Dolan, C. V. (Conor, V), Dunn, E. C. (Erin C.), Eley, T. C. (Thalia C.), Escott-Price, V. (Valentina), Kiadeh, F. F. (Farnush Farhadi Hassan), Finucane, H. K. (Hilary K.), Forstner, A. J. (Andreas J.), Frank, J. (Josef), Gaspar, H. A. (Helena A.), Gill, M. (Michael), Goes, F. S. (Fernando S.), Gordon, S. D. (Scott D.), Grove, J. (Jakob), Hall, L. S. (Lynsey S.), Hansen, C. S. (Christine Soholm), Hansen, T. F. (Thomas F.), Herms, S. (Stefan), Hickie, I. B. (Ian B.), Hoffmann, P. (Per), Homuth, G. (Georg), Horn, C. (Carsten), Hottenga, J.-J. (Jouke-Jan), Hougaard, D. M. (David M.), Ising, M. (Marcus), Jansen, R. (Rick), Jorgenson, E. (Eric), Knowles, J. A. (James A.), Kohane, I. S. (Isaac S.), Kraft, J. (Julia), Kretzschmar, W. W. (Warren W.), Krogh, J. (Jesper), Kutalik, Z. (Zoltan), Li, Y. (Yihan), Lind, P. A. (Penelope A.), MacIntyre, D. J. (Donald J.), MacKinnon, D. F. (Dean F.), Maier, R. M. (Robert M.), Maier, W. (Wolfgang), Marchini, J. (Jonathan), Mbarek, H. (Hamdi), McGrath, P. (Patrick), McGuffin, P. (Peter), Medland, S. E. (Sarah E.), Mehta, D. (Divya), Middeldorp, C. M. (Christel M.), Mihailov, E. (Evelin), Milaneschi, Y. (Yuri), Milani, L. (Lili), Mondimore, F. M. (Francis M.), Montgomery, G. W. (Grant W.), Mostafavi, S. (Sara), Mullins, N. (Niamh), Nauck, M. (Matthias), Ng, B. (Bernard), Nivard, M. G. (Michel G.), Nyholt, D. R. (Dale R.), O'Reilly, P. F. (Paul F.), Oskarsson, H. (Hogni), Owen, M. J. (Michael J.), Painter, J. N. (Jodie N.), Pedersen, C. B. (Carsten Bocker), Pedersen, M. G. (Marianne Girtz), Peterson, R. E. (Roseann E.), Pettersson, E. (Erik), Peyrot, W. J. (Wouter J.), Pistis, G. (Giorgio), Posthuma, D. (Danielle), Quiroz, J. A. (Jorge A.), Qvist, P. (Per), Rice, J. P. (John P.), Riley, B. P. (Brien P.), Rivera, M. (Margarita), Mirza, S. S. (Saira Saeed), Schoevers, R. (Robert), Schulte, E. C. (Eva C.), Shen, L. (Ling), Shi, J. (Jianxin), Shyn, S. I. (Stanley, I), Sigurdsson, E. (Engilbert), Sinnamon, G. C. (Grant C. B.), Smit, J. H. (Johannes H.), Smith, D. J. (Daniel J.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Streit, F. (Fabian), Strohmaier, J. (Jana), Tansey, K. E. (Katherine E.), Teismann, H. (Henning), Teumer, A. (Alexander), Thompson, W. (Wesley), Thomson, P. A. (Pippa A.), Thorgeirsson, T. E. (Thorgeir E.), Traylor, M. (Matthew), Treutlein, J. (Jens), Trubetskoy, V. (Vassily), Uitterlinden, A. G. (Andre G.), Umbricht, D. (Daniel), Van der Auwera, S. (Sandra), van Hemert, A. M. (Albert M.), Viktorin, A. (Alexander), Visscher, P. M. (Peter M.), Wang, Y. (Yunpeng), Webb, B. T. (Bradley T.), Weinsheimer, S. M. (Shantel Marie), Wellmann, J. (Juergen), Willemsen, G. (Gonneke), Witt, S. H. (Stephanie H.), Wu, Y. (Yang), Xi, H. S. (Hualin S.), Yang, J. (Jian), Zhang, F. (Futao), Arolt, V. (Volker), Baune, B. T. (Bernhard T.), Berger, K. (Klaus), Boomsma, D. I. (Dorret, I), Cichon, S. (Sven), Dannlowski, U. (Udo), de Geus, E. J. (E. J. C.), DePaulo, J. R. (J. Raymond), Domenici, E. (Enrico), Domschke, K. (Katharina), Esko, T. (Tonu), Grabe, H. J. (Hans J.), Hamilton, S. P. (Steven P.), Hayward, C. (Caroline), Heath, A. C. (Andrew C.), Kendler, K. S. (Kenneth S.), Kloiber, S. (Stefan), Lewis, G. (Glyn), Li, Q. S. (Qingqin S.), Lucae, S. (Susanne), Madden, P. A. (Pamela A. F.), Magnusson, P. K. (Patrik K.), Martin, N. G. (Nicholas G.), McIntosh, A. M. (Andrew M.), Metspalu, A. (Andres), Mors, O. (Ole), Mortensen, P. B. (Preben Bo), Mueller-Myhsok, B. (Bertram), Nordentoft, M. (Merete), Noethen, M. M. (Markus M.), O'Donovan, M. C. (Michael C.), Paciga, S. A. (Sara A.), Pedersen, N. L. (Nancy L.), Penninx, B. W. (Brenda W. J. H.), Perlis, R. H. (Roy H.), Porteous, D. J. (David J.), Potash, J. B. (James B.), Preisig, M. (Martin), Rietschel, M. (Marcella), Schaefer, C. (Catherine), Schulze, T. G. (Thomas G.), Smoller, J. W. (Jordan W.), Stefansson, K. (Kari), Tiemeier, H. (Henning), Uher, R. (Rudolf), Voelzke, H. (Henry), Weissman, M. M. (Myrna M.), Werge, T. (Thomas), Lewis, C. M. (Cathryn M.), Levinson, D. F. (Douglas F.), Breen, G. (Gerome), Borglum, A. D. (Anders D.), and Sullivan, P. F. (Patrick F.)

Abstract

Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overall n = 2365). We use Akaike’s information criterion to test which factors best explain variability of methylation in the cohort-specific VMRs: several prenatal environmental factors (E), genotypes in cis (G), or their additive (G + E) or interaction (GxE) effects. Genetic and environmental factors in combination best explain DNAm at the majority of VMRs. The CpGs best explained by either G, G + E or GxE are functionally distinct. The enrichment of genetic variants from GxE models in GWAS for complex disorders supports their importance for disease risk.

Published
2019

25. Effects of improved water supply and sanitation on ascariasis, diarrhoea, dracunculiasis, hookworm infection, schistosomiasis, and trachoma

Author

Esrey, S. A., Potash, J. B., Roberts, L., and Schiff, C.

Subjects
Trachoma -- Cases, Ascariasis -- Cases, Water-supply -- Contamination, Dracunculiasis -- Cases, Schistosomiasis -- Cases
Abstract

Improvements in water quality and sanitation and associated improvements in the health of the recipient populations have been major undertakings of international bodies for many years. A total of 144 reports of improvement efforts are reviewed and analyzed to assess the impact of intervention efforts on the parasitic diseases ascariasis (Ascaris lumbricoides), dracunculiasis (Dracunculus medinensis), hookworm infection (Ancylostoma duodenale, Necator americanus), schistosomiasis (Schistosoma hematobium, S. mansoni), trachoma (Chlamydia trachomatis), and diarrheal diseases. Varying results were noted in many of the studies. When the data were pooled and reconsidered, evidence of improvements effectuated in one or more of the components of water supply and sanitation was provided by the substantial reduction in the incidence and severity of these diseases. The impact on the incidence of hookworm disease was negligible. The benefits of antibiotic and chemotherapeutics were heightened by water and sanitary system improvements. In addition, these changes helped prevent the incidence of the diseases from returning to pretreatment levels. Based on this analysis, several summary recommendations are outlined. Safe excreta disposal and proper use of water resources should be given greater attention; water and sanitation facilities should be installed simultaneously in areas of fecal-related disease; accessibility of water sources to the home is essential; sanitation facilities should meet cultural needs; educational programs related to the proper use and maintenance of these systems should be developed and provided; and water and sanitation programs should complement clinical improvement programs. Recommendations for further study are suggested, and an extensive bibliography is appended. (Consumer Summary produced by Reliance Medical Information, Inc.), A total of 144 studies were analysed to examine the impact of improved water supply and sanitation facilities on ascariasis, diarrhoea, dracunculiasis, hookworm infection, schistosomiasis, and trachoma. These disease were selected because they are widespread and illustrate the variety of mechanisms through which improved water and sanitation can protect people. Disease-specific median reduction levels were calculated for all studies, and separately for the more methodologically rigorous ones. For the latter studies, the median reduction in morbidity for diarrhoea, trachoma, and ascariasis induced by water supplies and/or sanitation was 26%, 27%, and 29%, respectively; the median reduction for schistosomiasis and dracunculiasis was higher, at 77% and 78%, respectively. All studies of hookworm infection were flawed apart from one, which reported a 4% reduction in incidence. For hookworm infection, ascariasis, and schistosomiasis, the reduction in disease severity, as measured in egg counts, was greater than that in incidence or prevalence. Child mortality fell by 55%, which suggests that water and sanitation have a substantial impact on child survival. Water for personal and domestic hygiene was important in reducing the rates of ascariasis, diarrhoea, schistosomiasis, and trachoma. Sanitation facilities decreased diarrhoea morbidity and mortality and the severity of hookworm infection. Better water quality reduced the incidence of dracunculiasis, but its role in diarrhoeal disease control was less important than that of sanitation and hygiene., Introduction Water and sanitation have been the subjects of considerable recent attention as a result of the declaration by the United Nations General Assembly that the 1980s were the International [...]

Published
1991

26. Improving genetic prediction by leveraging genetic correlations among human diseases and traits

Author

Maier, R. M., Zhu, Z., Lee, S. H., Trzaskowski, M., Ruderfer, D. M., Stahl, E. A., Ripke, S., Wray, N. R., Yang, J., Visscher, P. M., Robinson, M. R., Forstner, A. J., Mcquillin, A., Trubetskoy, V., Wang, W., Wang, Y., Coleman, J. R. I., Gaspar, H. A., Leeuw, C. A., Whitehead Pavlides, J. M., Olde Loohuis, L. M., Pers, T. H., Lee, P. H., Charney, A. W., Dobbyn, A. L., Huckins, L., Boocock, J., Giambartolomei, C., Roussos, P., Mullins, N., Awasthi, S., Agerbo, E., Als, T. D., Pedersen, C. B., Grove, J., Kupka, R., Regeer, E. J., Anjorin, A., Casas, M., Mahon, P. B., Allardyce, J., Escott-Price, V., Forty, L., Fraser, C., Kogevinas, M., Frank, J., Streit, F., Strohmaier, J., Treutlein, J., Witt, S. H., Kennedy, J. L., Strauss, J. S., Garnham, J., O Donovan, C., Slaney, C., Steinberg, S., Thorgeirsson, T. E., Hautzinger, M., Steffens, M., Perlis, R. H., Sánchez-Mora, C., Hipolito, M., Lawson, W. B., Nwulia, E. A., Levy, S. E., Foroud, T. M., Jamain, S., Young, A. H., Mckay, J. D., Albani, D., Zandi, P., Potash, J. B., Zhang, P., Raymond Depaulo, J., Bergen, S. E., Juréus, A., Karlsson, R., Kandaswamy, R., Mcguffin, P., Rivera, M., Lissowska, J., Cruceanu, C., Lucae, S., Cervantes, P., Budde, M., Gade, K., Heilbronner, U., Pedersen, M. G., Morris, D. W., Weickert, C. S., Weickert, T. W., Macintyre, D. J., Lawrence, J., Elvsåshagen, T., Smeland, O. B., Djurovic, S., Xi, S., Green, E. K., Czerski, P. M., Hauser, J., Xu, W., Vedder, H., Oruc, L., Spijker, A. T., Gordon, S. D., Medland, S. E., Curtis, D., Mühleisen, T. W., Badner, J. A., Scheftner, W. A., Sigurdsson, E., Schork, N. J., Schatzberg, A. F., Bækvad-Hansen, M., Bybjerg-Grauholm, J., Hansen, C. S., Knowles, J. A., Szelinger, S., Montgomery, G. W., Boks, M., Adolfsson, A. N., Hoffmann, P., Bauer, M., Pfennig, A., Leber, M., Kittel-Schneider, S., Reif, A., Del-Favero, J., Fischer, S. B., Herms, S., Reinbold, C. S., Degenhardt, F., Koller, A. C., Maaser, A., Ori, A. P. S., Dale, A. M., Fan, C. C., Greenwood, T. A., Nievergelt, C. M., Shehktman, T., Shilling, P. D., Byerley, W., Bunney, W., Alliey-Rodriguez, N., Clarke, T. K., Liu, C., Coryell, W., Akil, H., Burmeister, M., Flickinger, M., Li, J. Z., Mcinnis, M. G., Meng, F., Thompson, R. C., Watson, S. J., Zollner, S., Guan, W., Green, M. J., Craig, D., Sobell, J. L., Milani, L., Gordon-Smith, Katherine, Knott, Sarah, Perry, Amy, Parra, J. G., Mayoral, F., Rivas, F., Rice, J. P., Barchas, J. D., Børglum, A. D., Mortensen, P. B., Mors, O., Grigoroiu-Serbanescu, M., Bellivier, F., Etain, B., Leboyer, M., Ramos-Quiroga, J. A., Agartz, I., Amin, F., Azevedo, M. H., Bass, N., Black, D. W., Blackwood, D. H. R., Bruggeman, R., Buccola, N. G., Choudhury, K., Cloninger, C. R., Corvin, A., Craddock, N., Daly, M. J., Datta, S., Donohoe, G. J., Duan, J., Dudbridge, F., Fanous, A., Freedman, R., Freimer, N. B., Friedl, M., Gill, M., Gurling, H., Haan, L., Hamshere, M. L., Hartmann, A. M., Holmans, P. A., Kahn, R. S., Keller, M. C., Kenny, E., Kirov, G. K., Krabbendam, L., Krasucki, R., Lencz, T., Levinson, D. F., Lieberman, J. A., Lin, D. -Y, Linszen, D. H., Magnusson, P. K. E., Maier, W., Malhotra, A. K., Mattheisen, M., Mattingsdal, M., Mccarroll, S. A., Medeiros, H., Melle, I., Milanova, V., Myin-Germeys, I., Neale, B. M., Ophoff, R. A., Owen, M. J., Pimm, J., Purcell, S. M., Puri, V., Digby Quested, Rossin, L., Sanders, A. R., Shi, J., Sklar, P., St Clair, D., Stroup, T. S., Os, J., Wiersma, D., Zammit, S., Maier, Robert M, Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M, Stahl, Eli A, Ripke, Stephan, Wray, Naomi R, Yang, Jian, Visscher, Peter M, Robinson, Matthew R, Bipolar Disorder Working Grp Psy, Schizophrenia Working Grp Psychiat, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, ANS - Complex Trait Genetics, Adult Psychiatry, and Psychiatry

Subjects
0301 basic medicine, Bipolar Disorder, Chemistry(all), Science, General Physics and Astronomy, Genomics, Genome-wide association study, Computational biology, Biology, Physics and Astronomy(all), Risk Assessment, Biochemistry, General Biochemistry, Genetics and Molecular Biology, Article, predictive medicine, quantitative trait, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Pleiotropy, Genetic Pleiotropy, Humans, Genetic Predisposition to Disease, lcsh:Science, Multidisciplinary, Models, Statistical, Bipolar Disorder/genetics, Genome-Wide Association Study, Schizophrenia/genetics, Biochemistry, Genetics and Molecular Biology(all), General Chemistry, Precision medicine, R1, Biobank, 3. Good health, genome wide association studies, 030104 developmental biology, Trait, Schizophrenia, statistical methods, lcsh:Q, Risk assessment, 030217 neurology & neurosurgery, Genetics and Molecular Biology(all)
Abstract

Genomic prediction has the potential to contribute to precision medicine. However, to date, the utility of such predictors is limited due to low accuracy for most traits. Here theory and simulation study are used to demonstrate that widespread pleiotropy among phenotypes can be utilised to improve genomic risk prediction. We show how a genetic predictor can be created as a weighted index that combines published genome-wide association study (GWAS) summary statistics across many different traits. We apply this framework to predict risk of schizophrenia and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial heterogeneity in prediction accuracy increases across cohorts. For six additional phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging from 0.7% for height to 47% for type 2 diabetes, when using a multi-trait predictor that combines published summary statistics from multiple traits, as compared to a predictor based only on one trait., Genetic prediction of complex traits so far has limited accuracy because of insufficient understanding of the genetic risk. Here, Maier et al. develop an improved method for trait prediction that makes use of genetic correlations between traits and apply it to summary statistics of psychiatric diseases.

Published
2018

27. Genetic Effects Influencing Risk For Major Depressive Disorder In China And Europe

Author

on behalf of the CONVERGE consortium and Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Bigdeli, T B, Ripke, S, Peterson, R E, Trzaskowski, M, Bacanu, S-A, Abdellaoui, A, Andlauer, T F M, Beekman, A T F, Berger, K, Blackwood, D H R, Boomsma, D I, Breen, G, Buttenschøn, H N, Byrne, E M, Cichon, S, Clarke, T-K, Couvy-Duchesne, B, Craddock, N, de Geus, E J C, Degenhardt, F, Dunn, E C, Edwards, A C, Fanous, A H, Forstner, A J, Frank, J, Gill, M, Gordon, S D, Grabe, H J, Hamilton, S P, Hardiman, O, Hayward, C, Heath, A C, Henders, A K, Herms, S, Hickie, I B, Hoffmann, P, Homuth, G, Hottenga, J-J, Ising, M, Jansen, R, Kloiber, S, Knowles, J A, Lang, M, Li, Q S, Lucae, S, MacIntyre, D J, Madden, P A F, Martin, N G, McGrath, P J, McGuffin, P, McIntosh, A M, Medland, S E, Mehta, D, Middeldorp, C M, Milaneschi, Y, Montgomery, G W, Mors, O, Müller-Myhsok, B, Nauck, M, Nyholt, D R, Nöthen, M M, Owen, M J, Penninx, B W J H, Pergadia, M L, Perlis, R H, Peyrot, W J, Porteous, D J, Potash, J B, Rice, J P, Rietschel, M, Riley, B P, Rivera, M, Schoevers, R, Schulze, T G, Shi, J, Shyn, S I, Smit, J H, Smoller, J W, Streit, F, Strohmaier, J, Teumer, A, Treutlein, J, Van der Auwera, S, van Grootheest, G, van Hemert, A M, Völzke, H, Webb, B T, Weissman, Myrna M., Wellmann, J, Willemsen, G, and Witt, S H

Published
2017
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28. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author

Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.

Abstract

Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.

Published
2017
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30. Polygenic interactions with environmental adversity in the aetiology of major depressive disorder

Author

Mullins, N., Power, R. A., Fisher, H. L., Hanscombe, K. B., Euesden, J., Iniesta, R., Levinson, D. F., Weissman, M. M., Potash, J. B., Shi, J., Uher, R., Cohen-Woods, S., Rivera, M., Jones, L., Jones, I., Craddock, N., Owen, M. J., Korszun, A., Craig, I. W., Farmer, A. E., McGuffin, P., Breen, G., and Lewis, C. M.

Subjects
Adult, Male, Depressive Disorder, Major, Multifactorial Inheritance, Depression, Original Articles, gene-environment interactions, Middle Aged, Life Change Events, Young Adult, Adult Survivors of Child Adverse Events, Risk Factors, Humans, genetics, Female, Gene-Environment Interaction, polygenic risk scoring, Stress, Psychological
Abstract

BACKGROUND: Major depressive disorder (MDD) is a common and disabling condition with well-established heritability and environmental risk factors. Gene-environment interaction studies in MDD have typically investigated candidate genes, though the disorder is known to be highly polygenic. This study aims to test for interaction between polygenic risk and stressful life events (SLEs) or childhood trauma (CT) in the aetiology of MDD.METHOD: The RADIANT UK sample consists of 1605 MDD cases and 1064 controls with SLE data, and a subset of 240 cases and 272 controls with CT data. Polygenic risk scores (PRS) were constructed using results from a mega-analysis on MDD by the Psychiatric Genomics Consortium. PRS and environmental factors were tested for association with case/control status and for interaction between them.RESULTS: PRS significantly predicted depression, explaining 1.1% of variance in phenotype (p = 1.9 × 10-6). SLEs and CT were also associated with MDD status (p = 2.19 × 10-4 and p = 5.12 × 10-20, respectively). No interactions were found between PRS and SLEs. Significant PRSxCT interactions were found (p = 0.002), but showed an inverse association with MDD status, as cases who experienced more severe CT tended to have a lower PRS than other cases or controls. This relationship between PRS and CT was not observed in independent replication samples.CONCLUSIONS: CT is a strong risk factor for MDD but may have greater effect in individuals with lower genetic liability for the disorder. Including environmental risk along with genetics is important in studying the aetiology of MDD and PRS provide a useful approach to investigating gene-environment interactions in complex traits.

Published
2015

31. The association between lower educational attainment and depression owing to shared genetic effects? Results in ∼25 000 subjects: Results in ~25,000 subjects

Author

Peyrot, W. J., Lee, S. H., Milaneschi, Y., Abdellaoui, A., Byrne, E. M., Esko, T., de Geus, E. J. C., Hemani, G., Hottenga, J. J., Kloiber, S., Levinson, D. F., Lucae, S., Martin, N. G., Medland, S. E., Metspalu, A., Milani, L., Noethen, M. M., Potash, J. B., Rietschel, M., Rietveld, C. A., Ripke, S., Shi, J., Willemsen, G., Zhu, Z., Boomsma, D. I., Wray, N. R., Penninx, B. W. J. H., Lewis, C. M., Hamilton, S. P., Weissman, M. M., Breen, G., Blackwood, D. H., Cichon, S., Heath, A. C., Holsboer, F., Madden, Pamela A., McGuffin, P., Muglia, P., Pergadia, M. L., Lin, D., Müller-Myhsok, B., Steinberg, S., Grabe, H. J., Lichtenstein, P., Magnusson, P., Perlis, R. H., Preisig, M., Smoller, J. W., Stefansson, K., Uher, R., Kutalik, Z., Tansey, K. E., Teumer, A., Viktorin, A., Barnes, M. R., Bettecken, T., Binder, E. B., Breuer, R., Castro, V. M., Churchill, S. E., Coryell, W. H., Craddock, N., Craig, I. W., Czamara, D., Degenhardt, F., Farmer, A. E., Fava, M., Frank, J., Gainer, V. S., Gallagher, P. J., Gordon, S. D., Goryachev, S., Gross, M., Guipponi, M., Henders, A. K., Herms, S., Hickie, I. B., Hoefels, S., Hoogendijk, W., Iosifescu, D. V., Ising, M., Jones, I., Jones, L., Jung-Ying, T., Knowles, J. A., Kohane, I. S., Kohli, M. A., Korszun, A., Landen, M., Lawson, W. B., Lewis, G., Macintyre, D., Maier, W., Mattheisen, M., McGrath, P. J., McIntosh, A., McLean, A., Middeldorp, C. M., Middleton, L., Montgomery, G. M., Murphy, S. N., Nauck, M., Nolen, W. A., Nyholt, Dale R., O'Donovan, M., Oskarsson, H., Pedersen, N., Scheftner, W. A., Schulz, A., Schulze, T. G., Shyn, S. I., Sigurdsson, E., Slager, S. L., Smit, J. H., Stefansson, H., Steffens, M., Thorgeirsson, T., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E. J., van Grootheest, G., Völzke, H., Weilburg, J. B., Zitman, F. G., Neale, B., Daly, M., Sullivan, P. F., Agrawal, Arpana, Albrecht, Eva, Z Alizadeh, Behrooz, Allik, J. ri, Amin, Najaf, Attia, John R., Bandinelli, Stefania, Barnard, John, Bastardot, Franois, e Baumeister, Sebastian, Beauchamp, Jonathan, Benjamin, Daniel J., Benke, Kelly S., Bennett, David A., Berger, Klaus, Bielak, Lawrence F., Bierut, Laura J., Boatman, Jeffrey A., Boyle, Patricia A., Bültmann, Ute, Campbell, Harry, Cesarini, David, Chabris, Christopher F., Cherkas, Lynn, Chung, Mina K., Conley, Dalton, Cucca, Francesco, Davey-Smith, George, Davies, Gail, de Andrade, Mariza, de Jager, Philip L., de Leeuw, Christiaan, de Neve, Jan-Emmanuel, Deary, Ian J., Dedoussis, George V., Deloukas, Panos, Derringer, Jaime, Dimitriou, Maria, Eiriksdottir, Gudny, Eklund, Niina, Elderson, Martin F., Eriksson, Johan G., Evans, Daniel S., Evans, David M., Faul, Jessica D., Fehrmann, Rudolf, Ferrucci, Luigi, Fischer, Krista, Franke, Lude, Garcia, Melissa E., Gieger, Christian, Gjessing, Hkon K., Groenen, Patrick J. F., Grönberg, Henrik, Gudnason, Vilmundur, Hägg, Sara, Hall, Per, Harris, Jennifer R., Harris, Juliette M., Harris, Tamara B., Hastie, Nicholas D., Hayward, Caroline, Hernandez, Dena G., Hoffmann, Wolgang, Hofman, Adriaan, Hofman, Albert, Holle, Rolf, Holliday, Elizabeth G., Holzapfel, Christina, Iacono, William G., Ibrahim-Verbaas, Carla A., Illig, Thomas, Ingelsson, Erik, Jacobsson, Bo, Järvelin, Marjo-Riitta, Jhun, Min A., Johannesson, Magnus, Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika, Kähönen, Mika, Kanoni, Stavroula, Kaprio, Jaakkko, Kardia, Sharon L. R., Karjalainen, Juha, Kirkpatrick, Robert M., Koellinger, Philipp D., Kolcic, Ivana, Kowgier, Matthew, Kristiansson, Kati, Krueger, Robert F., Kutalik, Z. ltan, Lahti, Jari, Laibson, David, Latvala, Antti, Launer, Lenore J., Lawlor, Debbie A., Lethimäki, Terho, Li, Jingmei, Lichtenstein, Paul, Lichtner, Peter K., Liewald, David C., Lin, Peng, Lind, Penelope A., Liu, Yongmei, Lohman, Kurt, Loitfelder, Marisa, Magnusson, Patrick K. E., Mäkinen, Tomi E., Vidal, Pedro Marques, Martin, Nicolas W., Masala, Marco, McGue, Matt, McMahon, George, Meirelles, Osorio, Meyer, Michelle N., Mielck, Andreas, Miller, Michael B., Montgomery, Grant W., Mukherjee, Sutapa, Myhre, Ronny, Nuotio, Marja-Liisa, J Oldmeadow, Christopher, Oostra, Ben A., Palmer, Lyle J., Palotie, Aarno, Perola, Markus, Petrovic, Katja E., Peyser, Patricia A., Polašek, Ozren, Posthuma, Danielle, Preisig, Martin, Quaye, Lydia, Räikkönen, Katri, Raitakari, Olli T., Realo, Anu, Reinmaa, Eva, Rice, John P., Ring, Susan M., Ripatti, Samuli, Rivadeneira, Fernando, Rizzi, Thais S., Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sarin, Antti-Pekka, Schlessinger, David, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Shakhbazov, Konstantin, Smith, Albert V., Smith, Jennifer A., Snieder, Harold, St Pourcain, Beate, Starr, John M., Sul, Jae Hoon, Surakka, Ida, Svento, Rauli, Tanaka, Toshiko, Terracciano, Antonio, Teumer, Alexander, Thurik, A. Roy, Tiemeier, Henning, Timpson, Nicholas J., Uitterlinden, André G., van der Loos, Matthijs J. H. M., van Duijn, Cornelia M., van Rooij, Frank J. A., van Wagoner, David R., Vartiainen, Erkki, Viikari, Jorma, Visscher, Peter M., Vitart, Veronique, Vollenweider, Peter K., Völzke, Henry, Vonk, Judith M., Waeber, G. rard, Weir, David R., Wellmann, J. rgen, Westra, Harm-Jan, Wichmann, H. Erich, Widen, Elisabeth, Wilson, James F., Wright, Alan F., Yang, Jian, Yu, Lei, Zhao, Wei, and Academic Medical Center

Subjects
Adult, Male, Psychiatric Status Rating Scales, Likelihood Functions, Genotype, Estonia/epidemiology, Netherlands/epidemiology, Depressive Disorder, Major/epidemiology, Middle Aged, Polymorphism, Single Nucleotide/genetics, Cohort Studies, Odds Ratio, Educational Status, Humans, Regression Analysis, Female, Gene-Environment Interaction, Genetic Association Studies, Aged
Abstract

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14 949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15 138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884 105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ∼120 000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.

Published
2015

33. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling

Author

Martin, P-M, primary, Stanley, R E, additional, Ross, A P, additional, Freitas, A E, additional, Moyer, C E, additional, Brumback, A C, additional, Iafrati, J, additional, Stapornwongkul, K S, additional, Dominguez, S, additional, Kivimäe, S, additional, Mulligan, K A, additional, Pirooznia, M, additional, McCombie, W R, additional, Potash, J B, additional, Zandi, P P, additional, Purcell, S M, additional, Sanders, S J, additional, Zuo, Y, additional, Sohal, V S, additional, and Cheyette, B N R, additional

Published
2016
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34. Exonic DNA Sequencing of ERBB4 in Bipolar Disorder

Author

Goes, F. S., Rongione, M., Chen, Y-C., Karchin, R., Elhaik, E., Potash, J. B., and Study, BG

Abstract

The Neuregulin-ErbB4 pathway plays a crucial role in brain development and constitutes one of the most biologically plausible signaling pathways implicated in schizophrenia and, to a lesser extent, in bipolar disorder (BP). However, recent genome-wide association analyses have not provided evidence for common variation in NRG1 or ERBB4 influencing schizophrenia or bipolar disorder susceptibility. In this study, we investigate the role of rare coding variants in ERBB4 in BP cases with mood-incongruent psychotic features, a form of BP with arguably the greatest phenotypic overlap with schizophrenia. We performed Sanger sequencing of all 28 exons in ERBB4, as well as part of the promoter and part of the 3′UTR sequence, hypothesizing that rare deleterious variants would be found in 188 cases with mood-incongruent psychosis from the GAIN BP study. We found 42 variants, of which 16 were novel, although none were non-synonymous or clearly deleterious. One of the novel variants, present in 11.2% of cases, is located next to an alternative stop codon, which is associated with a shortened transcript of ERBB4 that is not translated. We genotyped this variant in the GAIN BP case-control samples and found a marginally significant association with mood-incongruent psychotic BP compared with controls (additive model: OR = 1.64, P-value = 0.055; dominant model: OR = 1.73. P-value = 0.039). In conclusion, we found no rare variants of clear deleterious effect, but did uncover a modestly associated novel variant that could affect alternative splicing of ERBB4. However, the modest sample size in this study cannot definitively rule out a role for rare variants in bipolar disorder and studies with larger sample sizes are needed to confirm the observed association.

Published
2011

35. Polygenic interactions with environmental adversity in the aetiology of major depressive disorder

Author

Mullins, N., primary, Power, R. A., additional, Fisher, H. L., additional, Hanscombe, K. B., additional, Euesden, J., additional, Iniesta, R., additional, Levinson, D. F., additional, Weissman, M. M., additional, Potash, J. B., additional, Shi, J., additional, Uher, R., additional, Cohen-Woods, S., additional, Rivera, M., additional, Jones, L., additional, Jones, I., additional, Craddock, N., additional, Owen, M. J., additional, Korszun, A., additional, Craig, I. W., additional, Farmer, A. E., additional, McGuffin, P., additional, Breen, G., additional, and Lewis, C. M., additional

Published
2015
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37. DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling

Author

Martin, P-M, Stanley, R E, Ross, A P, Freitas, A E, Moyer, C E, Brumback, A C, Iafrati, J, Stapornwongkul, K S, Dominguez, S, Kivimäe, S, Mulligan, K A, Pirooznia, M, McCombie, W R, Potash, J B, Zandi, P P, Purcell, S M, Sanders, S J, Zuo, Y, Sohal, V S, and Cheyette, B N R

Abstract

Mice lacking DIX domain containing-1 (DIXDC1), an intracellular Wnt/β-catenin signal pathway protein, have abnormal measures of anxiety, depression and social behavior. Pyramidal neurons in these animals’ brains have reduced dendritic spines and glutamatergic synapses. Treatment with lithium or a glycogen synthase kinase-3 (GSK3) inhibitor corrects behavioral and neurodevelopmental phenotypes in these animals. Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls. Many of these SNVs alter Wnt/β-catenin signaling activity of the neurally predominant DIXDC1 isoform; a subset that hyperactivate this pathway cause dominant neurodevelopmental effects. We propose that rare missense SNVs in DIXDC1 contribute to psychiatric pathogenesis by reducing spine and glutamatergic synapse density downstream of GSK3 in the Wnt/β-catenin pathway.

Published
2018
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38. Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing

Author

Mostafavi, S, primary, Battle, A, additional, Zhu, X, additional, Potash, J B, additional, Weissman, M M, additional, Shi, J, additional, Beckman, K, additional, Haudenschild, C, additional, McCormick, C, additional, Mei, R, additional, Gameroff, M J, additional, Gindes, H, additional, Adams, P, additional, Goes, F S, additional, Mondimore, F M, additional, MacKinnon, D F, additional, Notes, L, additional, Schweizer, B, additional, Furman, D, additional, Montgomery, S B, additional, Urban, A E, additional, Koller, D, additional, and Levinson, D F, additional

Published
2013
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40. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

Author

Gamazon, E R, primary, Badner, J A, additional, Cheng, L, additional, Zhang, C, additional, Zhang, D, additional, Cox, N J, additional, Gershon, E S, additional, Kelsoe, J R, additional, Greenwood, T A, additional, Nievergelt, C M, additional, Chen, C, additional, McKinney, R, additional, Shilling, P D, additional, Schork, N J, additional, Smith, E N, additional, Bloss, C S, additional, Nurnberger, J I, additional, Edenberg, H J, additional, Foroud, T, additional, Koller, D L, additional, Scheftner, W A, additional, Coryell, W, additional, Rice, J, additional, Lawson, W B, additional, Nwulia, E A, additional, Hipolito, M, additional, Byerley, W, additional, McMahon, F J, additional, Schulze, T G, additional, Berrettini, W H, additional, Potash, J B, additional, Zandi, P P, additional, Mahon, P B, additional, McInnis, M G, additional, Zöllner, S, additional, Zhang, P, additional, Craig, D W, additional, Szelinger, S, additional, Barrett, T B, additional, and Liu, C, additional

Published
2012
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41. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms

Author

Badner, J A, primary, Koller, D, additional, Foroud, T, additional, Edenberg, H, additional, Nurnberger, J I, additional, Zandi, P P, additional, Willour, V L, additional, McMahon, F J, additional, Potash, J B, additional, Hamshere, M, additional, Grozeva, D, additional, Green, E, additional, Kirov, G, additional, Jones, I, additional, Jones, L, additional, Craddock, N, additional, Morris, D, additional, Segurado, R, additional, Gill, M, additional, Sadovnick, D, additional, Remick, R, additional, Keck, P, additional, Kelsoe, J, additional, Ayub, M, additional, MacLean, A, additional, Blackwood, D, additional, Liu, C-Y, additional, Gershon, E S, additional, McMahon, W, additional, Lyon, G J, additional, Robinson, R, additional, Ross, J, additional, and Byerley, W, additional

Published
2011
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42. Genome-wide association study of recurrent early-onset major depressive disorder

Author

Shi, J, primary, Potash, J B, additional, Knowles, J A, additional, Weissman, M M, additional, Coryell, W, additional, Scheftner, W A, additional, Lawson, W B, additional, DePaulo, J R, additional, Gejman, P V, additional, Sanders, A R, additional, Johnson, J K, additional, Adams, P, additional, Chaudhury, S, additional, Jancic, D, additional, Evgrafov, O, additional, Zvinyatskovskiy, A, additional, Ertman, N, additional, Gladis, M, additional, Neimanas, K, additional, Goodell, M, additional, Hale, N, additional, Ney, N, additional, Verma, R, additional, Mirel, D, additional, Holmans, P, additional, and Levinson, D F, additional

Published
2010
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43. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies

Author

Shyn, S I, primary, Shi, J, additional, Kraft, J B, additional, Potash, J B, additional, Knowles, J A, additional, Weissman, M M, additional, Garriock, H A, additional, Yokoyama, J S, additional, McGrath, P J, additional, Peters, E J, additional, Scheftner, W A, additional, Coryell, W, additional, Lawson, W B, additional, Jancic, D, additional, Gejman, P V, additional, Sanders, A R, additional, Holmans, P, additional, Slager, S L, additional, Levinson, D F, additional, and Hamilton, S P, additional

Published
2009
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44. Singleton deletions throughout the genome increase risk of bipolar disorder

Author

Zhang, D, primary, Cheng, L, additional, Qian, Y, additional, Alliey-Rodriguez, N, additional, Kelsoe, J R, additional, Greenwood, T, additional, Nievergelt, C, additional, Barrett, T B, additional, McKinney, R, additional, Schork, N, additional, Smith, E N, additional, Bloss, C, additional, Nurnberger, J, additional, Edenberg, H J, additional, Foroud, T, additional, Sheftner, W, additional, Lawson, W B, additional, Nwulia, E A, additional, Hipolito, M, additional, Coryell, W, additional, Rice, J, additional, Byerley, W, additional, McMahon, F, additional, Schulze, T G, additional, Berrettini, W, additional, Potash, J B, additional, Belmonte, P L, additional, Zandi, P P, additional, McInnis, M G, additional, Zöllner, S, additional, Craig, D, additional, Szelinger, S, additional, Koller, D, additional, Christian, S L, additional, Liu, C, additional, and Gershon, E S, additional

Published
2008
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47. Genetic effects influencing risk for major depressive disorder in China and Europe

Author

Bigdeli, T B, Ripke, S, Peterson, R E, Trzaskowski, M, Bacanu, S-A, Abdellaoui, A, Andlauer, T F M, Beekman, A T F, Berger, K, Blackwood, D H R, Boomsma, D I, Breen, G, Buttenschøn, H N, Byrne, E M, Cichon, S, Clarke, T-K, Couvy-Duchesne, B, Craddock, N, de Geus, E J C, Degenhardt, F, Dunn, E C, Edwards, A C, Fanous, A H, Forstner, A J, Frank, J, Gill, M, Gordon, S D, Grabe, H J, Hamilton, S P, Hardiman, O, Hayward, C, Heath, A C, Henders, A K, Herms, S, Hickie, I B, Hoffmann, P, Homuth, G, Hottenga, J-J, Ising, M, Jansen, R, Kloiber, S, Knowles, J A, Lang, M, Li, Q S, Lucae, S, MacIntyre, D J, Madden, P A F, Martin, N G, McGrath, P J, McGuffin, P, McIntosh, A M, Medland, S E, Mehta, D, Middeldorp, C M, Milaneschi, Y, Montgomery, G W, Mors, O, Müller-Myhsok, B, Nauck, M, Nyholt, D R, Nöthen, M M, Owen, M J, Penninx, B W J H, Pergadia, M L, Perlis, R H, Peyrot, W J, Porteous, D J, Potash, J B, Rice, J P, Rietschel, M, Riley, B P, Rivera, M, Schoevers, R, Schulze, T G, Shi, J, Shyn, S I, Smit, J H, Smoller, J W, Streit, F, Strohmaier, J, Teumer, A, Treutlein, J, Van der Auwera, S, van Grootheest, G, van Hemert, A M, Völzke, H, Webb, B T, Weissman, M M, Wellmann, J, Willemsen, G, Witt, S H, Levinson, D F, Lewis, C M, Wray, N R, Flint, J, Sullivan, P F, and Kendler, K S

Abstract

Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30–40%), extensive heterogeneity and a complex genetic architecture have complicated efforts to detect associated genetic risk variants. We combined single-nucleotide polymorphism (SNP) summary statistics from the CONVERGE and PGC studies of MDD, representing 10 502 Chinese (5282 cases and 5220 controls) and 18 663 European (9447 cases and 9215 controls) subjects. We determined the fraction of SNPs displaying consistent directions of effect, assessed the significance of polygenic risk scores and estimated the genetic correlation of MDD across ancestries. Subsequent trans-ancestry meta-analyses combined SNP-level evidence of association. Sign tests and polygenic score profiling weakly support an overlap of SNP effects between East Asian and European populations. We estimated the trans-ancestry genetic correlation of lifetime MDD as 0.33; female-only and recurrent MDD yielded estimates of 0.40 and 0.41, respectively. Common variants downstream of GPHN achieved genome-wide significance by Bayesian trans-ancestry meta-analysis (rs9323497; log10 Bayes Factor=8.08) but failed to replicate in an independent European sample (P=0.911). Gene-set enrichment analyses indicate enrichment of genes involved in neuronal development and axonal trafficking. We successfully demonstrate a partially shared polygenic basis of MDD in East Asian and European populations. Taken together, these findings support a complex etiology for MDD and possible population differences in predisposing genetic factors, with important implications for future genetic studies.

Published
2017
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