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1. High Polygenic Risk Scores Are Associated With Early Age of Onset of Alcohol Use Disorder in Adolescents and Young Adults at Risk

Author

Nurnberger, John I, Wang, Yumin, Zang, Yong, Lai, Dongbing, Wetherill, Leah, Edenberg, Howard J, Aliev, Fazil, Plawecki, Martin H, Chorlian, David, Chan, Grace, Bucholz, Kathleen, Bauer, Lance, Kamarajan, Chella, Salvatore, Jessica E, Kapoor, Manav, Hesselbrock, Victor, Dick, Danielle, Bierut, Laura, McCutcheon, Vivia, Meyers, Jacquelyn L, Porjesz, Bernice, Kramer, John, Kuperman, Samuel, Kinreich, Sivan, Anokhin, Andrey P, Porjesz, B, Hesselbrock, V, Foroud, T, Agrawal, A, Dick, D, Edenberg, HJ, Nurnberger, J, Liu, Y, Kuperman, S, Kramer, J, Meyers, J, Kamarajan, C, Pandey, A, Bierut, L, Rice, J, Bucholz, K, Schuckit, M, Tischfield, J, Brooks, A, Hart, R, Almasy, L, Salvatore, J, Goate, A, Kapoor, M, Slesinger, P, Scott, D, Bauer, L, Wetherill, L, Xuei, X, Lai, D, O’Connor, S, Plawecki, M, Zang, Y, Acion, L, Chan, G, Chorlian, DB, Zhang, J, Kinreich, S, Pandey, G, Chao, M, Anokhin, A, McCutcheon, V, Saccone, S, Aliev, F, Barr, P, Chin, H, and Parsian, A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Prevention, Substance Misuse, Underage Drinking, Alcoholism, Alcohol Use and Health, Pediatric, Clinical Research, Mental health, Good Health and Well Being, Collaborative Study on the Genetics of Alcoholism, Alcohol use disorder, Clinical variables, Polygenic risk scores, Prediction of illness, Receiver operating characteristics curves, Survival analysis
Abstract

BackgroundGenome-wide association studies have been conducted in alcohol use disorder (AUD), and they permit the use of polygenic risk scores (PRSs), in combination with clinical variables, to predict the onset of AUD in vulnerable populations.MethodsA total of 2794 adolescent/young adult subjects from the Collaborative Study on the Genetics of Alcoholism were followed, with clinical assessments every 2 years. Subjects were genotyped using a genome-wide chip. Separate PRS analyses were performed for subjects of European ancestry and African ancestry. Age of onset of DSM-5 AUD was evaluated using the Cox proportional hazard model. Predictive power was assessed using receiver operating characteristic curves and by analysis of the distribution of PRS.ResultsEuropean ancestry subjects with higher than median PRSs were at greater risk for onset of AUD than subjects with lower than median PRSs (p = 3 × 10-7). Area under the curve for the receiver operating characteristic analysis peaked at 0.88 to 0.95 using PRS plus sex, family history, comorbid disorders, age at first drink, and peer drinking; predictive power was primarily driven by clinical variables. In this high-risk sample, European ancestry subjects with a PRS score in the highest quartile showed a 72% risk for developing AUD and a 35% risk of developing severe AUD (compared with risks of 54% and 16%, respectively, in the lowest quartile).ConclusionsPredictive power for PRSs in the extremes of the distribution suggests that these may have future clinical utility. Uncertainties in interpretation at the individual level still preclude current application.

Published
2022

2. High Polygenic Risk Scores Are Associated With Early Age of Onset of Alcohol Use Disorder in Adolescents and Young Adults at Risk

Author

Porjesz, B., Hesselbrock, V., Foroud, T., Agrawal, A., Dick, D., Edenberg, H.J., Nurnberger, J., Jr., Liu, Y., Kuperman, S., Kramer, J., Meyers, J., Kamarajan, C., Pandey, A., Bierut, L., Rice, J., Bucholz, K., Schuckit, M., Tischfield, J., Brooks, A., Hart, R., Almasy, L., Salvatore, J., Goate, A., Kapoor, M., Slesinger, P., Scott, D., Bauer, L., Wetherill, L., Xuei, X., Lai, D., O’Connor, S., Plawecki, M., Zang, Y., Acion, L., Chan, G., Chorlian, D.B., Zhang, J., Kinreich, S., Pandey, G., Chao, M., Anokhin, A., McCutcheon, V., Saccone, S., Aliev, F., Barr, P., Chin, H., Parsian, A., Nurnberger, John I., Jr., Wang, Yumin, Zang, Yong, Lai, Dongbing, Wetherill, Leah, Edenberg, Howard J., Aliev, Fazil, Plawecki, Martin H., Chorlian, David, Chan, Grace, Bucholz, Kathleen, Bauer, Lance, Kamarajan, Chella, Salvatore, Jessica E., Kapoor, Manav, Hesselbrock, Victor, Dick, Danielle, Bierut, Laura, McCutcheon, Vivia, Meyers, Jacquelyn L., Porjesz, Bernice, Kramer, John, Kuperman, Samuel, Kinreich, Sivan, and Anokhin, Andrey P.

Published
2022
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3. The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences

Author

Meyers, J. L., Chorlian, D. B., Bigdeli, T. B., Johnson, E. C., Aliev, F., Agrawal, A., Almasy, L., Anokhin, A., Edenberg, H. J., Foroud, T., Goate, A., Kamarajan, C., Kinreich, S., Nurnberger, J., Pandey, A. K., Pandey, G., Plawecki, M. H., Salvatore, J. E., Zhang, J., Fanous, A., and Porjesz, B.

Published
2021
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4. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

Author

Ruderfer, DM, Fanous, AH, Ripke, S, McQuillin, A, Amdur, RL, Gejman, PV, O'Donovan, MC, Andreassen, OA, Djurovic, S, Hultman, CM, Kelsoe, JR, Jamain, S, Landén, M, Leboyer, M, Nimgaonkar, V, Nurnberger, J, Smoller, JW, Craddock, N, Corvin, A, Sullivan, PF, Holmans, P, Sklar, P, and Kendler, KS

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Brain Disorders, Serious Mental Illness, Genetics, Schizophrenia, Prevention, Mental Health, Bipolar Disorder, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Calcium Channels, L-Type, Case-Control Studies, Cell Cycle Proteins, Factor Analysis, Statistical, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Nuclear Proteins, Odds Ratio, Phenotype, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, Schizophrenic Psychology, bipolar, clinical symptoms, cross disorder, polygenic, schizophrenia, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

Bipolar disorder and schizophrenia are two often severe disorders with high heritabilities. Recent studies have demonstrated a large overlap of genetic risk loci between these disorders but diagnostic and molecular distinctions still remain. Here, we perform a combined genome-wide association study (GWAS) of 19 779 bipolar disorder (BP) and schizophrenia (SCZ) cases versus 19 423 controls, in addition to a direct comparison GWAS of 7129 SCZ cases versus 9252 BP cases. In our case-control analysis, we identify five previously identified regions reaching genome-wide significance (CACNA1C, IFI44L, MHC, TRANK1 and MAD1L1) and a novel locus near PIK3C2A. We create a polygenic risk score that is significantly different between BP and SCZ and show a significant correlation between a BP polygenic risk score and the clinical dimension of mania in SCZ patients. Our results indicate that first, combining diseases with similar genetic risk profiles improves power to detect shared risk loci and second, that future direct comparisons of BP and SCZ are likely to identify loci with significant differential effects. Identifying these loci should aid in the fundamental understanding of how these diseases differ biologically. These findings also indicate that combining clinical symptom dimensions and polygenic signatures could provide additional information that may someday be used clinically.

Published
2014

5. Optical Method for Determination of Carrier Density in Modulation Doped Quantum Wells

Author

Astakhov, G. V., Kochereshko, V. P., Yakovlev, D. R., Ossau, W., Nurnberger, J., Faschinger, W., Landwehr, G., Wojtowicz, T., Karczewski, G., and Kossut, J.

Subjects
Condensed Matter - Strongly Correlated Electrons
Abstract

An optical method is suggested to determine the concentration of two-dimensional electrons in modulation-doped quantum wells at low and moderate electron densities between 10^{9} and 2x10^{11} cm^{-2}. The method is based on an analysis of magneto-reflectivity spectra of charged excitons (trions). The circular polarization degree and the oscillator strength of the charged excitons contain information about the density and spin polarization of two-dimensional electron gas. The method is applied to CdTe/(Cd,Mg)Te and ZnSe/Zn,Mg)(S,Se) heterostructures.

Published
2001
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6. ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry

Author

Bierut, LJ, Goate, AM, Breslau, N, Johnson, EO, Bertelsen, S, Fox, L, Agrawal, A, Bucholz, KK, Grucza, R, Hesselbrock, V, Kramer, J, Kuperman, S, Nurnberger, J, Porjesz, B, Saccone, NL, Schuckit, M, Tischfield, J, Wang, JC, Foroud, T, Rice, JP, and Edenberg, HJ

Subjects
Substance Misuse, Alcoholism, Alcohol Use and Health, Brain Disorders, Genetics, Mental health, Good Health and Well Being, Adolescent, Adult, Aged, Alcohol Dehydrogenase, Alcohol Drinking, Alcoholism, Alleles, Black People, Case-Control Studies, Female, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, White People, ADH1B, alcohol dehydrogenase, alcohol dependence, association study, genetics, protective allele, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

A coding variant in alcohol dehydrogenase 1B (ADH1B) (rs1229984) that leads to the replacement of Arg48 with His48 is common in Asian populations and reduces their risk for alcoholism, but because of very low allele frequencies the effects in European or African populations have been difficult to detect. We genotyped and analyzed this variant in three large European and African-American case-control studies in which alcohol dependence was defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria, and demonstrated a strong protective effect of the His48 variant (odds ratio (OR) 0.34, 95% confidence interval (CI) 0.24, 0.48) on alcohol dependence, with genome-wide significance (6.6 × 10(-10)). The hypothesized mechanism of action involves an increased aversive reaction to alcohol; in keeping with this hypothesis, the same allele is strongly associated with a lower maximum number of drinks in a 24-hour period (lifetime), with P=3 × 10(-13). We also tested the effects of this allele on the development of alcoholism in adolescents and young adults, and demonstrated a significantly protective effect. This variant has the strongest effect on risk for alcohol dependence compared with any other tested variant in European populations.

Published
2012

7. Polygenic Risk Score Prediction of Alcohol Dependence Symptoms Across Population‐Based and Clinically Ascertained Samples

Author

Savage, Jeanne E., Salvatore, Jessica E., Aliev, Fazil, Edwards, Alexis C., Hickman, Matthew, Kendler, Kenneth S., Macleod, John, Latvala, Antti, Loukola, Anu, Kaprio, Jaakko, Rose, Richard J., Chan, Grace, Hesselbrock, Victor, Webb, Bradley T., Adkins, Amy, Bigdeli, Tim B., Riley, Brien P., Dick, Danielle M., Porjesz, B., Edenberg, H., Bierut, L., Nurnberger, J., Foroud, T., Kuperman, S., Kramer, J., Rice, J., Bucholz, K., Agrawal, A., Schuckit, M., Tischfield, J., Brooks, A., Almasy, L., Goate, A., Taylor, R., Bauer, L., McClintick, J., Wetherill, L., Xuei, X., Liu, Y., Lai, D., OʼConnor, S., Plawecki, M., Lourens, S., Meyers, J., Chorlian, D., Kamarajan, C., Pandey, A., Zhang, J., Wang, J.‐C., Kapoor, M., Bertelsen, S., Anokhin, A., McCutcheon, V., Saccone, S., Cho, B., Parsian, A., and Reilly, M.

Published
2018
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8. Collaborative meta-analysis finds no evidence of a strong interaction between stress and 5-HTTLPR genotype contributing to the development of depression

Author

Culverhouse, R C, Saccone, N L, Horton, A C, Ma, Y, Anstey, K J, Banaschewski, T, Burmeister, M, Cohen-Woods, S, Etain, B, Fisher, H L, Goldman, N, Guillaume, S, Horwood, J, Juhasz, G, Lester, K J, Mandelli, L, Middeldorp, C M, Olié, E, Villafuerte, S, Air, T M, Araya, R, Bowes, L, Burns, R, Byrne, E M, Coffey, C, Coventry, W L, Gawronski, K AB, Glei, D, Hatzimanolis, A, Hottenga, J-J, Jaussent, I, Jawahar, C, Jennen-Steinmetz, C, Kramer, J R, Lajnef, M, Little, K, zu Schwabedissen, H M, Nauck, M, Nederhof, E, Petschner, P, Peyrot, W J, Schwahn, C, Sinnamon, G, Stacey, D, Tian, Y, Toben, C, Van der Auwera, S, Wainwright, N, Wang, J-C, Willemsen, G, Anderson, I M, Arolt, V, Åslund, C, Bagdy, G, Baune, B T, Bellivier, F, Boomsma, D I, Courtet, P, Dannlowski, U, de Geus, E JC, Deakin, J FW, Easteal, S, Eley, T, Fergusson, D M, Goate, A M, Gonda, X, Grabe, H J, Holzman, C, Johnson, E O, Kennedy, M, Laucht, M, Martin, N G, Munafò, M R, Nilsson, K W, Oldehinkel, A J, Olsson, C A, Ormel, J, Otte, C, Patton, G C, Penninx, B WJH, Ritchie, K, Sarchiapone, M, Scheid, J M, Serretti, A, Smit, J H, Stefanis, N C, Surtees, P G, Völzke, H, Weinstein, M, Whooley, M, Nurnberger, J I, Jr, Breslau, N, and Bierut, L J

Published
2018
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9. Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations

Author

Mathies, Laura D., Aliev, Fazil, Davies, Andrew G., Dick, Danielle M., Bettinger, Jill C., Porjesz, B., Hesselbrock, V., Edenberg, H., Bierut, L., Nurnberger, J., Jr., Foroud, T., Kuperman, S., Kramer, J., Porjesz, B., Bierut, L., Rice, J., Bucholz, K., Agrawal, A., Schuckit, M., Tischfield, J., Brooks, A., Almasy, L., Goate, A., Taylor, R., Bauer, L., McClintick, J., Wetherill, L., Xuei, X., Liu, Y., Lai, D., OʼConnor, S., Plawecki, M., Lourens, S., Chan, G., Meyers, J., Chorlian, D., Kamarajan, C., Pandey, A., Zhang, J., Wang, J.‐C., Kapoor, M., Bertelsen, S., Anokhin, A., McCutcheon, V., Saccone, S., Salvatore, J., Cho, B., Kos, M., Parsian, A., and Reilly, M.

Published
2017
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11. Strategies and foundations for scientific discovery in longitudinal studies of bipolar disorder

Author

McInnis, MG, Andreassen, OA, Andreazza, AC, Alon, U, Berk, M, Brister, T, Burdick, KE, Cui, D, Frye, M, Leboyer, M, Mitchell, PB, Merikangas, K, Nierenberg, AA, Nurnberger, J, Pham, D, Vieta, E, Yatham, LN, Young, AH, McInnis, MG, Andreassen, OA, Andreazza, AC, Alon, U, Berk, M, Brister, T, Burdick, KE, Cui, D, Frye, M, Leboyer, M, Mitchell, PB, Merikangas, K, Nierenberg, AA, Nurnberger, J, Pham, D, Vieta, E, Yatham, LN, and Young, AH

Abstract

Bipolar disorder (BD) is a complex and dynamic condition with a typical onset in late adolescence or early adulthood followed by an episodic course with intervening periods of subthreshold symptoms or euthymia. It is complicated by the accumulation of comorbid medical and psychiatric disorders. The etiology of BD remains unknown and no reliable biological markers have yet been identified. This is likely due to lack of comprehensive ontological framework and, most importantly, the fact that most studies have been based on small nonrepresentative clinical samples with cross-sectional designs. We propose to establish large, global longitudinal cohorts of BD studied consistently in a multidimensional and multidisciplinary manner to determine etiology and help improve treatment. Herein we propose collection of a broad range of data that reflect the heterogenic phenotypic manifestations of BD that include dimensional and categorical measures of mood, neurocognitive, personality, behavior, sleep and circadian, life-story, and outcomes domains. In combination with genetic and biological information such an approach promotes the integrating and harmonizing of data within and across current ontology systems while supporting a paradigm shift that will facilitate discovery and become the basis for novel hypotheses.

Published
2022

12. The Impact of Peer Substance Use and Polygenic Risk on Trajectories of Heavy Episodic Drinking Across Adolescence and Emerging Adulthood

Author

Li, James J., Cho, Seung Bin, Salvatore, Jessica E., Edenberg, Howard J., Agrawal, Arpana, Chorlian, David B., Porjesz, Bernice, Hesselbrock, Victor, Dick, Danielle M., Edenberg, H., Bierut, L., Nurnberger, J., Jr., Foroud, T., Kuperman, S., Kramer, J., Goate, A., Rice, J., Bucholz, K., Schuckit, M., Tischfield, J., Almasy, L., Taylor, R., Dick, D., Bauer, L., Koller, D., OʼConnor, S., Wetherill, L., Xuei, X., Chan, Grace, Kang, S., Manz, N., Wang, JC, Brooks, A., Aliev, F., Parsian, A., and Reilly, M.

Published
2017
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14. 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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15. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author

Mullins, N, Forstner, AJ, O'Connell, KS, Coombes, B, Coleman, JR, Qiao, Z, Als, TD, Bigdeli, TB, Borte, S, Bryois, J, Charney, AW, Drange, OK, Gandal, MJ, Hagenaars, SP, Ikeda, M, Kamitaki, N, Kim, M, Krebs, K, Panagiotaropoulou, G, Schilder, BM, Sloofman, LG, Steinberg, S, Trubetskoy, V, Winsvold, BS, Won, H-H, Abramova, L, Adorjan, K, Agerbo, E, Al Eissa, M, Albani, D, Alliey-Rodriguez, N, Anjorin, A, Antilla, V, Antoniou, A, Awasthi, S, Baek, JH, Baekvad-Hansen, M, Bass, N, Bauer, M, Beins, EC, Bergen, SE, Birner, A, Pedersen, CB, Boen, E, Boks, MP, Bosch, R, Brum, M, Brumpton, BM, Brunkhorst-Kanaan, N, Budde, M, Bybjerg-Grauholm, J, Byerley, W, Cairns, M, Casas, M, Cervantes, P, Clarke, T-K, Cruceanu, C, Cuellar-Barboza, A, Cunningham, J, Curtis, D, Czerski, PM, Dale, AM, Dalkner, N, David, FS, Degenhardt, F, Djurovic, S, Dobbyn, AL, Douzenis, A, Elvsashagen, T, Escott-Price, V, Ferrier, IN, Fiorentino, A, Foroud, TM, Forty, L, Frank, J, Frei, O, Freimer, NB, Frisen, L, Gade, K, Garnham, J, Gelernter, J, Pedersen, MG, Gizer, IR, Gordon, SD, Gordon-Smith, K, Greenwood, TA, Grove, J, Guzman-Parra, J, Ha, K, Haraldsson, M, Hautzinger, M, Heilbronner, U, Hellgren, D, Herms, S, Hoffmann, P, Holmans, PA, Huckins, L, Jamain, S, Johnson, JS, Kalman, JL, Kamatani, Y, Kennedy, JL, Kittel-Schneider, S, Knowles, JA, Kogevinas, M, Koromina, M, Kranz, TM, Kranzler, HR, Kubo, M, Kupka, R, Kushner, SA, Lavebratt, C, Lawrence, J, Leber, M, Lee, H-J, Lee, PH, Levy, SE, Lewis, C, Liao, C, Lucae, S, Lundberg, M, MacIntyre, DJ, Maier, W, Maihofer, A, Malaspina, D, Maratou, E, Martinsson, L, Mattheisen, M, McCarroll, SA, McGregor, NW, McGuffin, P, McKay, JD, Medeiros, H, Medland, SE, Millischer, V, Montgomery, GW, Moran, JL, Morris, DW, Muhleisen, TW, O'Brien, N, O'Donovan, C, Loohuis, LMO, Oruc, L, Papiol, S, Pardinas, AF, Perry, A, Pfennig, A, Porichi, E, Potash, JB, Quested, D, Raj, T, Rapaport, MH, DePaulo, JR, Regeer, EJ, Rice, JP, Rivas, F, Rivera, M, Roth, J, Roussos, P, Ruderfer, DM, Sanchez-Mora, C, Schulte, EC, Senner, F, Sharp, S, Shilling, PD, Sigurdsson, E, Sirignano, L, Slaney, C, Smeland, OB, Sobell, JL, Hansen, CS, Artigas, MS, Spijker, AT, Stein, DJ, Strauss, JS, Swiatkowska, B, Terao, C, Thorgeirsson, TE, Toma, C, Tooney, P, Tsermpini, E-E, Vawter, MP, Vedder, H, Walters, JTR, Witt, SH, Xi, S, Xu, W, Yang, JMK, Young, AH, Young, H, Zandi, PP, Zhou, H, Zillich, L, Adolfsson, R, Agartz, I, Alda, M, Alfredsson, L, Babadjanova, G, Backlund, L, Baune, BT, Bellivier, F, Bengesser, S, Berrettini, WH, Blackwood, DHR, Boehnke, M, Borglum, AD, Breen, G, Carr, VJ, Catts, S, Corvin, A, Craddock, N, Dannlowski, U, Dikeos, D, Esko, T, Etain, B, Ferentinos, P, Frye, M, Fullerton, JM, Gawlik, M, Gershon, ES, Goes, F, Green, MJ, Grigoroiu-Serbanescu, M, Hauser, J, Henskens, F, Hillert, J, Hong, KS, Hougaard, DM, Hultman, CM, Hveem, K, Iwata, N, Jablensky, A, Jones, I, Jones, LA, Kahn, RS, Kelsoe, JR, Kirov, G, Landen, M, Leboyer, M, Lewis, CM, Li, QS, Lissowska, J, Lochner, C, Loughland, C, Martin, NG, Mathews, CA, Mayoral, F, McElroy, SL, McIntosh, AM, McMahon, FJ, Melle, I, Michie, P, Milani, L, Mitchell, PB, Morken, G, Mors, O, Mortensen, PB, Mowry, B, Muller-Myhsok, B, Myers, RM, Neale, BM, Nievergelt, CM, Nordentoft, M, Nothen, MM, ODonovan, MC, Oedegaard, KJ, Olsson, T, Owen, MJ, Paciga, SA, Pantelis, C, Pato, C, Pato, MT, Patrinos, GP, Perlis, RH, Posthuma, D, Ramos-Quiroga, JA, Reif, A, Reininghaus, EZ, Ribases, M, Rietschel, M, Ripke, S, Rouleau, GA, Saito, T, Schall, U, Schalling, M, Schofield, PR, Schulze, TG, Scott, LJ, Scott, RJ, Serretti, A, Weickert, CS, Smoller, JW, Stefansson, H, Stefansson, K, Stordal, E, Streit, F, Sullivan, PF, Turecki, G, Vaaler, AE, Vieta, E, Vincent, JB, Waldman, ID, Weickert, TW, Werge, T, Wray, NR, Zwart, J, Biernacka, JM, Nurnberger, J, Cichon, S, Edenberg, HJ, Stahl, EA, McQuillin, A, Di Florio, A, Ophoff, RA, Andreassen, OA, Mullins, N, Forstner, AJ, O'Connell, KS, Coombes, B, Coleman, JR, Qiao, Z, Als, TD, Bigdeli, TB, Borte, S, Bryois, J, Charney, AW, Drange, OK, Gandal, MJ, Hagenaars, SP, Ikeda, M, Kamitaki, N, Kim, M, Krebs, K, Panagiotaropoulou, G, Schilder, BM, Sloofman, LG, Steinberg, S, Trubetskoy, V, Winsvold, BS, Won, H-H, Abramova, L, Adorjan, K, Agerbo, E, Al Eissa, M, Albani, D, Alliey-Rodriguez, N, Anjorin, A, Antilla, V, Antoniou, A, Awasthi, S, Baek, JH, Baekvad-Hansen, M, Bass, N, Bauer, M, Beins, EC, Bergen, SE, Birner, A, Pedersen, CB, Boen, E, Boks, MP, Bosch, R, Brum, M, Brumpton, BM, Brunkhorst-Kanaan, N, Budde, M, Bybjerg-Grauholm, J, Byerley, W, Cairns, M, Casas, M, Cervantes, P, Clarke, T-K, Cruceanu, C, Cuellar-Barboza, A, Cunningham, J, Curtis, D, Czerski, PM, Dale, AM, Dalkner, N, David, FS, Degenhardt, F, Djurovic, S, Dobbyn, AL, Douzenis, A, Elvsashagen, T, Escott-Price, V, Ferrier, IN, Fiorentino, A, Foroud, TM, Forty, L, Frank, J, Frei, O, Freimer, NB, Frisen, L, Gade, K, Garnham, J, Gelernter, J, Pedersen, MG, Gizer, IR, Gordon, SD, Gordon-Smith, K, Greenwood, TA, Grove, J, Guzman-Parra, J, Ha, K, Haraldsson, M, Hautzinger, M, Heilbronner, U, Hellgren, D, Herms, S, Hoffmann, P, Holmans, PA, Huckins, L, Jamain, S, Johnson, JS, Kalman, JL, Kamatani, Y, Kennedy, JL, Kittel-Schneider, S, Knowles, JA, Kogevinas, M, Koromina, M, Kranz, TM, Kranzler, HR, Kubo, M, Kupka, R, Kushner, SA, Lavebratt, C, Lawrence, J, Leber, M, Lee, H-J, Lee, PH, Levy, SE, Lewis, C, Liao, C, Lucae, S, Lundberg, M, MacIntyre, DJ, Maier, W, Maihofer, A, Malaspina, D, Maratou, E, Martinsson, L, Mattheisen, M, McCarroll, SA, McGregor, NW, McGuffin, P, McKay, JD, Medeiros, H, Medland, SE, Millischer, V, Montgomery, GW, Moran, JL, Morris, DW, Muhleisen, TW, O'Brien, N, O'Donovan, C, Loohuis, LMO, Oruc, L, Papiol, S, Pardinas, AF, Perry, A, Pfennig, A, Porichi, E, Potash, JB, Quested, D, Raj, T, Rapaport, MH, DePaulo, JR, Regeer, EJ, Rice, JP, Rivas, F, Rivera, M, Roth, J, Roussos, P, Ruderfer, DM, Sanchez-Mora, C, Schulte, EC, Senner, F, Sharp, S, Shilling, PD, Sigurdsson, E, Sirignano, L, Slaney, C, Smeland, OB, Sobell, JL, Hansen, CS, Artigas, MS, Spijker, AT, Stein, DJ, Strauss, JS, Swiatkowska, B, Terao, C, Thorgeirsson, TE, Toma, C, Tooney, P, Tsermpini, E-E, Vawter, MP, Vedder, H, Walters, JTR, Witt, SH, Xi, S, Xu, W, Yang, JMK, Young, AH, Young, H, Zandi, PP, Zhou, H, Zillich, L, Adolfsson, R, Agartz, I, Alda, M, Alfredsson, L, Babadjanova, G, Backlund, L, Baune, BT, Bellivier, F, Bengesser, S, Berrettini, WH, Blackwood, DHR, Boehnke, M, Borglum, AD, Breen, G, Carr, VJ, Catts, S, Corvin, A, Craddock, N, Dannlowski, U, Dikeos, D, Esko, T, Etain, B, Ferentinos, P, Frye, M, Fullerton, JM, Gawlik, M, Gershon, ES, Goes, F, Green, MJ, Grigoroiu-Serbanescu, M, Hauser, J, Henskens, F, Hillert, J, Hong, KS, Hougaard, DM, Hultman, CM, Hveem, K, Iwata, N, Jablensky, A, Jones, I, Jones, LA, Kahn, RS, Kelsoe, JR, Kirov, G, Landen, M, Leboyer, M, Lewis, CM, Li, QS, Lissowska, J, Lochner, C, Loughland, C, Martin, NG, Mathews, CA, Mayoral, F, McElroy, SL, McIntosh, AM, McMahon, FJ, Melle, I, Michie, P, Milani, L, Mitchell, PB, Morken, G, Mors, O, Mortensen, PB, Mowry, B, Muller-Myhsok, B, Myers, RM, Neale, BM, Nievergelt, CM, Nordentoft, M, Nothen, MM, ODonovan, MC, Oedegaard, KJ, Olsson, T, Owen, MJ, Paciga, SA, Pantelis, C, Pato, C, Pato, MT, Patrinos, GP, Perlis, RH, Posthuma, D, Ramos-Quiroga, JA, Reif, A, Reininghaus, EZ, Ribases, M, Rietschel, M, Ripke, S, Rouleau, GA, Saito, T, Schall, U, Schalling, M, Schofield, PR, Schulze, TG, Scott, LJ, Scott, RJ, Serretti, A, Weickert, CS, Smoller, JW, Stefansson, H, Stefansson, K, Stordal, E, Streit, F, Sullivan, PF, Turecki, G, Vaaler, AE, Vieta, E, Vincent, JB, Waldman, ID, Weickert, TW, Werge, T, Wray, NR, Zwart, J, Biernacka, JM, Nurnberger, J, Cichon, S, Edenberg, HJ, Stahl, EA, McQuillin, A, Di Florio, A, Ophoff, RA, and Andreassen, OA

Abstract

Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies.

Published
2021

16. 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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17. 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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18. A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53

Author

Wang, J-C, Foroud, T, Hinrichs, A L, Le, N XH, Bertelsen, S, Budde, J P, Harari, O, Koller, D L, Wetherill, L, Agrawal, A, Almasy, L, Brooks, A l, Bucholz, K, Dick, D, Hesselbrock, V, Johnson, E O, Kang, S, Kapoor, M, Kramer, J, Kuperman, S, Madden, P AF, Manz, N, Martin, N G, McClintick, J N, Montgomery, G W, Nurnberger, J I, Jr, Rangaswamy, M, Rice, J, Schuckit, M, Tischfield, J A, Whitfield, J B, Xuei, X, Porjesz, B, Heath, A C, Edenberg, H J, Bierut, L J, and Goate, A M

Published
2013
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42. Association of the κ-opioid system with alcohol dependence

Author

Xuei, X, Dick, D, Flury-Wetherill, L, Tian, H-J, Agrawal, A, Bierut, L, Goate, A, Bucholz, K, Schuckit, M, Nurnberger, J, Jr, Tischfield, J, Kuperman, S, Porjesz, B, Begleiter, H, Foroud, T, and Edenberg, H J

Published
2006

46. Salivary melatonin onset in youth at familial risk for bipolar disorder

Author

Ghaziuddin, N, Shamseddeen, W, Bertram, H, McInnis, M, Wilcox, HC, Mitchell, PB, Fullerton, JM, Roberts, GMP, Glowinski, AL, Kamali, M, Stapp, E, Hulvershorn, LA, Nurnberger, J, Armitage, R, Ghaziuddin, N, Shamseddeen, W, Bertram, H, McInnis, M, Wilcox, HC, Mitchell, PB, Fullerton, JM, Roberts, GMP, Glowinski, AL, Kamali, M, Stapp, E, Hulvershorn, LA, Nurnberger, J, and Armitage, R

Abstract

Melatonin secretion and polysomnography (PSG) were compared among a group of healthy adolescents who were at high familial risk for bipolar disorder (HR) and a second group at low familial risk (LR). Adolescent participants (n = 12) were a mean age 14 ± 2.3 years and included 8 females and 4 males. Saliva samples were collected under standardized condition light (red light) and following a 200 lux light exposure over two consecutive nights in a sleep laboratory. Red Light Melatonin onset (RLMO) was defined as saliva melatonin level exceeding the mean of the first 3 readings plus 2 standard deviations. Polysomnography was also completed during each night. HR youth, relative to LR, experienced a significantly earlier melatonin onset following 200 lux light exposure. Polysomnography revealed that LR youth, relative to HR, spent significantly more time in combined stages 3 and 4 (deep sleep) following red light exposure. Additionally, regardless of the group status (HR or LR), there was no significant difference in Red Light Melatonin Onset recorded at home or in the laboratory, implying its feasibility and reliability.

Published
2019

50. Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

Author

Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS, Tempo team, Gross P, Schulze B, Bichet D, Chauveau D, Peeters P, Voiculescu M, Manunta P, Tuazon J, Watnick T, Goral S, Horie S, Nutahara K, Torres V, Chapman A, Gansevoort R, Perrone R, Czerwiec F, Goldstein S, Cowley B, Fukagawa M, Torra R, Wei LJ, Cook T, Toto R, Agarwal R, August P, Bakris G, Beddhu S, Corwin H, Ruilope L, Rosa-Diez G, De La Fuente J, Martin R, Massari P, Novoa P, Rial M, Wasserman A, Faull R, Fraser I, Johnson D, Pedagagos E, Lian M, Pollock C, Cooper B, Rangan G, Russ G, McDonald S, Thomas M, Khoo D, Walker R, Pirson Y, Laecke V, Van der Niepen P, Sennesael J, Barre P, Alam A, Soroka S, Dieperink H, Strandgaard S, Petersen L, Berthoux F, Canaud B, Gontiers-Picard A, Huart A, Combe C, Delmas Y, Dussol B, Laville M, Guebre-Egziabher F, Mignon F, Michel C, Rieu P, Noel N, Ryckelynck J, Lobbedez T, Dellanna F, Kleophas W, Feldkamp T, Witzke O, Nurnberger J, Zeltner R, Walz G, Zeier M, Sommerer C, Bianchi S, Capasso G, Miranda N, Magistroni R, Bracale M, Remuzzi G, Rota S, Villa G, Tilocca P, Asahi K, Kato T, Endo M, Umezono T, Fujigaki Y, Kato A, Fukatsu A, Hasegawa H, Tayama Y, Hasegawa M, Hosoya T, Hanaoka K, Iehara N, Iino Y, Tsuruoka S, Imai E, Isaka Y, Ishimura E, Ito S, Sato H, Kamata K, Sakamoto H, Kamura K, Kusano E, Muto S, Kuwahara M, Matsubara A, Yorioka N, Mochizuki T, Narita I, Naya Y, Nihei N, Yukio N, Nishio S, Nitta K, Tsuchiya K, Okamura M, Sasaki S, Rai T, Seta K, Sugawara A, Shibazaki S, Sugiyama S, Tabei K, Takaichi K, Tomita K, Kitamura K, Tsukamoto Y, Tsuruya K, Nakano T, Ubara Y, Watanabe T, Yamamoto T, Yoshida K, Ishii D, Yuzawa Y, Meijer E, Vervloet M, Ciechanowski K, Wisniewska M, Gutowska-Jablonska M, Marcinkowska-Królewicz M, Klatko W, Wiśniewski T, Klinger M, Krajewska M, Ksiazek A, Orłowska G, Malecki R, Gontarek-Kacprzak J, Nowicki M, Makówka A, Rutkowski B, Wołyniec W, Rydzewski A, Sulowicz W, Jasik P, Covic A, Volovat C, Mircescu G, Petrescu L, Bobeica R, Barbarash O, Chesnokova L, Borovoy S, Demina L, Shostka G, Idovu M, Tkalich L, Geynits O, Tomilina N, Foggensteiner L, Holt S, Kingswood J, Lambie S, Peel R, MacDougall I, Tucker B, MacPhee I, Maxwell A, Brown H, Mikhail A, Bastin L, Turner N, Neary J, Wheeler D, Maxwell P, Wilkie M, Ong A, Zehnder D, Aldridge N, Adler S, Klein M, Battle D, Bennett W, Berger B, Dell K, Blumenfeld J, Donahue S, Bolin P, Browder R, Perry A, Oskoui F, Culpepper M, Dahl N, Edelstein C, Clegg L, Fischer D, Kaplan M, Kaveh K, Pankhaniya R, Koren M, Mansur K, Lafayette R, Lamar W, Lee J, Mahnensmith R, Nachman P, Mottl A, Miskulin D, Petersen J, Radhakrishnan J, Roppolo M, Basireddy M, Rosner M, Bolton W, Schulman G, Steed L, Steinman T, Hogan M, Venuto R, Turban S, Winklhofer F., Cardiovascular Centre (CVC), Groningen Kidney Center (GKC), Torres, Ve, Chapman, Ab, Devuyst, O, Gansevoort, Rt, Grantham, Jj, Higashihara, E, Perrone, Rd, Krasa, Hb, Ouyang, J, Czerwiec, F, Tempo, Team, Gross, P, Schulze, B, Bichet, D, Chauveau, D, Peeters, P, Voiculescu, M, Manunta, P, Tuazon, J, Watnick, T, Goral, S, Horie, S, Nutahara, K, Torres, V, Chapman, A, Gansevoort, R, Perrone, R, Goldstein, S, Cowley, B, Fukagawa, M, Torra, R, Wei, Lj, Cook, T, Toto, R, Agarwal, R, August, P, Bakris, G, Beddhu, S, Corwin, H, Ruilope, L, Rosa-Diez, G, De La Fuente, J, Martin, R, Massari, P, Novoa, P, Rial, M, Wasserman, A, Faull, R, Fraser, I, Johnson, D, Pedagagos, E, Lian, M, Pollock, C, Cooper, B, Rangan, G, Russ, G, Mcdonald, S, Thomas, M, Khoo, D, Walker, R, Pirson, Y, Laecke, V, Van der Niepen, P, Sennesael, J, Barre, P, Alam, A, Soroka, S, Dieperink, H, Strandgaard, S, Petersen, L, Berthoux, F, Canaud, B, Gontiers-Picard, A, Huart, A, Combe, C, Delmas, Y, Dussol, B, Laville, M, Guebre-Egziabher, F, Mignon, F, Michel, C, Rieu, P, Noel, N, Ryckelynck, J, Lobbedez, T, Dellanna, F, Kleophas, W, Feldkamp, T, Witzke, O, Nurnberger, J, Zeltner, R, Walz, G, Zeier, M, Sommerer, C, Bianchi, S, Capasso, G, Miranda, N, Magistroni, R, Bracale, M, Remuzzi, G, Rota, S, Villa, G, Tilocca, P, Asahi, K, Kato, T, Endo, M, Umezono, T, Fujigaki, Y, Kato, A, Fukatsu, A, Hasegawa, H, Tayama, Y, Hasegawa, M, Hosoya, T, Hanaoka, K, Iehara, N, Iino, Y, Tsuruoka, S, Imai, E, Isaka, Y, Ishimura, E, Ito, S, Sato, H, Kamata, K, Sakamoto, H, Kamura, K, Kusano, E, Muto, S, Kuwahara, M, Matsubara, A, Yorioka, N, Mochizuki, T, Narita, I, Naya, Y, Nihei, N, Yukio, N, Nishio, S, Nitta, K, Tsuchiya, K, Okamura, M, Sasaki, S, Rai, T, Seta, K, Sugawara, A, Shibazaki, S, Sugiyama, S, Tabei, K, Takaichi, K, Tomita, K, Kitamura, K, Tsukamoto, Y, Tsuruya, K, Nakano, T, Ubara, Y, Watanabe, T, Yamamoto, T, Yoshida, K, Ishii, D, Yuzawa, Y, Meijer, E, Vervloet, M, Ciechanowski, K, Wisniewska, M, Gutowska-Jablonska, M, Marcinkowska-Królewicz, M, Klatko, W, Wiśniewski, T, Klinger, M, Krajewska, M, Ksiazek, A, Orłowska, G, Malecki, R, Gontarek-Kacprzak, J, Nowicki, M, Makówka, A, Rutkowski, B, Wołyniec, W, Rydzewski, A, Sulowicz, W, Jasik, P, Covic, A, Volovat, C, Mircescu, G, Petrescu, L, Bobeica, R, Barbarash, O, Chesnokova, L, Borovoy, S, Demina, L, Shostka, G, Idovu, M, Tkalich, L, Geynits, O, Tomilina, N, Foggensteiner, L, Holt, S, Kingswood, J, Lambie, S, Peel, R, Macdougall, I, Tucker, B, Macphee, I, Maxwell, A, Brown, H, Mikhail, A, Bastin, L, Turner, N, Neary, J, Wheeler, D, Maxwell, P, Wilkie, M, Ong, A, Zehnder, D, Aldridge, N, Adler, S, Klein, M, Battle, D, Bennett, W, Berger, B, Dell, K, Blumenfeld, J, Donahue, S, Bolin, P, Browder, R, Perry, A, Oskoui, F, Culpepper, M, Dahl, N, Edelstein, C, Clegg, L, Fischer, D, Kaplan, M, Kaveh, K, Pankhaniya, R, Koren, M, Mansur, K, Lafayette, R, Lamar, W, Lee, J, Mahnensmith, R, Nachman, P, Mottl, A, Miskulin, D, Petersen, J, Radhakrishnan, J, Roppolo, M, Basireddy, M, Rosner, M, Bolton, W, Schulman, G, Steed, L, Steinman, T, Hogan, M, Venuto, R, Turban, S, Winklhofer, F., University of Zurich, Torres, Vicente E, Feldkamp, Thorsten (Beitragende*r), and Witzke, Oliver (Beitragende*r)

Subjects
Male, Tolvaptan, Medizin, 2700 General Medicine, SIROLIMUS, Kidney, V2 RECEPTOR ANTAGONIST, 10052 Institute of Physiology, Aquaretic, VASOPRESSIN V-2-RECEPTOR ANTAGONIST, Polycystic Kidney, 10035 Clinic for Nephrology, Medicine (all), General Medicine, Organ Size, Middle Aged, Adolescent, Adult, Benzazepines, Double-Blind Method, Female, Glomerular Filtration Rate, Humans, Polycystic Kidney, Autosomal Dominant, Sodium, Young Adult, Antidiuretic Hormone Receptor Antagonists, LONG-ACTING SOMATOSTATIN, Autosomal Dominant, 10076 Center for Integrative Human Physiology, OPC-41061, medicine.symptom, medicine.drug, medicine.medical_specialty, RENAL-FUNCTION, CYST GROWTH, Autosomal dominant polycystic kidney disease, Urology, Renal function, Kidney Volume, 610 Medicine & health, Placebo, Article, VOLUME PROGRESSION, Cystic kidney disease, Internal medicine, medicine, HYPONATREMIA, business.industry, urogenital system, ORAL TOLVAPTAN, medicine.disease, Endocrinology, Albuminuria, 570 Life sciences, biology, business
Abstract

BACKGROUND: The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V 2 -receptor antagonists inhibit cyst growth and slow the decline of kidney function. METHODS: In this phase 3, multicenter, double-blind, placebo-controlled, 3-year trial, we randomly assigned 1445 patients, 18 to 50 years of age, who had ADPKD with a total kidney volume of 750 ml or more and an estimated creatinine clearance of 60 ml per minute or more, in a 2:1 ratio to receive tolvaptan, a V 2 -receptor antagonist, at the highest of three twice-daily dose regimens that the patient found tolerable, or placebo. The primary outcome was the annual rate of change in the total kidney volume. Sequential secondary end points included a composite of time to clinical progression (defined as worsening kidney function, kidney pain, hypertension, and albuminuria) and rate of kidney-function decline. RESULTS: Over a 3-year period, the increase in total kidney volume in the tolvaptan group was 2.8% per year (95% confidence interval [CI], 2.5 to 3.1), versus 5.5% per year in the placebo group (95% CI, 5.1 to 6.0; P

Published
2012

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