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1. Cohort profile:SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders

Author: Lähteenvuo, M. (Markku), Ahola-Olli, A. (Ari), Suokas, K. (Kimmo), Holm, M. (Minna), Misiewicz, Z. (Zuzanna), Jukuri, T. (Tuomas), Männynsalo, T. (Teemu), Wegelius, A. (Asko), Haaki, W. (Willehard), Kajanne, R. (Risto), Kyttälä, A. (Aija), Tuulio-Henriksson, A. (Annamari), Lahdensuo, K. (Kaisla), Häkkinen, K. (Katja), Hietala, J. (Jarmo), Paunio, T. (Tiina), Niemi-Pynttäri, J. (Jussi), Kieseppä, T. (Tuula), Veijola, J. (Juha), Lönnqvist, J. (Jouko), Isometsä, E. (Erkki), Kampman, O. (Olli), Tiihonen, J. (Jari), Hyman, S. (Steven), Neale, B. (Benjamin), Daly, M. (Mark), Suvisaari, J. (Jaana), Palotie, A. (Aarno), Lähteenvuo, M. (Markku), Ahola-Olli, A. (Ari), Suokas, K. (Kimmo), Holm, M. (Minna), Misiewicz, Z. (Zuzanna), Jukuri, T. (Tuomas), Männynsalo, T. (Teemu), Wegelius, A. (Asko), Haaki, W. (Willehard), Kajanne, R. (Risto), Kyttälä, A. (Aija), Tuulio-Henriksson, A. (Annamari), Lahdensuo, K. (Kaisla), Häkkinen, K. (Katja), Hietala, J. (Jarmo), Paunio, T. (Tiina), Niemi-Pynttäri, J. (Jussi), Kieseppä, T. (Tuula), Veijola, J. (Juha), Lönnqvist, J. (Jouko), Isometsä, E. (Erkki), Kampman, O. (Olli), Tiihonen, J. (Jari), Hyman, S. (Steven), Neale, B. (Benjamin), Daly, M. (Mark), Suvisaari, J. (Jaana), and Palotie, A. (Aarno)
Abstract: Purpose: SUPER-Finland is a large Finnish collection of psychosis cases. This cohort also represents the Finnish contribution to the Stanley Global Neuropsychiatric Genetics Initiative, which seeks to diversify genetic sample collection to include Asian, Latin American and African populations in addition to known population isolates, such as Finland. Participants: 10 474 individuals aged 18 years or older were recruited throughout the country. The subjects have been genotyped with a genome-wide genotyping chip and exome sequenced. A subset of 897 individuals selected from known population sub-isolates were selected for whole-genome sequencing. Recruitment was done between November 2015 and December 2018. Findings to date: 5757 (55.2%) had a diagnosis of schizophrenia, 944 (9.1%) schizoaffective disorder, 1612 (15.5%) type I or type II bipolar disorder, 532 (5.1 %) psychotic depression, 1047 (10.0%) other psychosis and for 530 (5.1%) self-reported psychosis at recruitment could not be confirmed from register data. Mean duration of schizophrenia was 22.0 years at the time of the recruitment. By the end of the year 2018, 204 of the recruited individuals had died. The most common cause of death was cardiovascular disease (n=61) followed by neoplasms (n=40). Ten subjects had psychiatric morbidity as the primary cause of death. Future plans: Compare the effects of common variants, rare variants and copy number variations (CNVs) on severity of psychotic illness. In addition, we aim to track longitudinal course of illness based on nation-wide register data to estimate how phenotypic and genetic differences alter it.
Published: 2023

2. Myötätunto ja itsemyötätunto lääkärin työssä

Author: Vikki, H. (Hetastiina), Lehto, E. (Eerika), Kulmala, P. (Petri), Hurtig, T. (Tuula), Paunio, T. (Tiina), Repo, S. (Saara), Korhonen, T. (Tuula), Kaisti, I. (Ilona), Hintsanen, M. (Mirka), Jääskeläinen, E. (Erika), Vikki, H. (Hetastiina), Lehto, E. (Eerika), Kulmala, P. (Petri), Hurtig, T. (Tuula), Paunio, T. (Tiina), Repo, S. (Saara), Korhonen, T. (Tuula), Kaisti, I. (Ilona), Hintsanen, M. (Mirka), and Jääskeläinen, E. (Erika)
Abstract: Tiivistelmä Myötätunto tarkoittaa toisen ihmisen kärsimyksen havaitsemista ja sen synnyttämää halua lievittää toisen kärsimystä. Itsemyötätunto on nimensä mukaisesti myötätuntoa itseä kohtaan. Myötätunto itseä ja potilaita kohtaan kuuluvat suomalaisiin valmistuvan lääkärin osaamistavoitteisiin. Vahva itsemyötätunto on lääkäreillä ja lääketieteen opiskelijoilla liittynyt vähäisempään työuupumukseen ja suurempaan työhön tai opintoihin sitoutumiseen. Myötätuntouupumus on lääkärien keskuudessa yleistä.
Published: 2022

3. Substance use and sleep problems in patients with psychotic disorders

Author: Cederlöf, E. (Erik), Holm, M. (Minna), Ahti, J. (Johan), Lähteenvuo, M. (Markku), Hietala, J. (Jarmo), Häkkinen, K. (Katja), Isometsä, E. (Erkki), Kampman, O. (Olli), Lahdensuo, K. (Kaisla), Lönnqvist, J. (Jouko), Suvisaari, J. (Jaana), Tiihonen, J. (Jari), Wegelius, A. (Asko), Veijola, J. (Juha), Palotie, A. (Aarno), Kieseppä, T. (Tuula), Niemelä, S. (Solja), Paunio, T. (Tiina), Cederlöf, E. (Erik), Holm, M. (Minna), Ahti, J. (Johan), Lähteenvuo, M. (Markku), Hietala, J. (Jarmo), Häkkinen, K. (Katja), Isometsä, E. (Erkki), Kampman, O. (Olli), Lahdensuo, K. (Kaisla), Lönnqvist, J. (Jouko), Suvisaari, J. (Jaana), Tiihonen, J. (Jari), Wegelius, A. (Asko), Veijola, J. (Juha), Palotie, A. (Aarno), Kieseppä, T. (Tuula), Niemelä, S. (Solja), and Paunio, T. (Tiina)
Abstract: Background: Substance use and sleep problems are common in patients with psychotic disorders, but their associations in these patients have not been evaluated. We aimed to investigate associations between substance use and sleep problems in a large nationwide cohort of patients with a psychotic disorder. Study Design: This study is part of the Finnish SUPER study, which belongs to the Stanley Global Neuropsychiatric Genomics Initiative. In this cross-sectional, multicenter study, participants (N = 8616) were recruited from primary and specialized healthcare. Patients with schizophrenia, schizoaffective disorder, bipolar disorder, and psychotic depression were included. Information on current alcohol (Alcohol Use Disorders Identification Test-Concise) and cigarette use as well as on lifetime illicit drug use, including cannabis, benzodiazepines, amphetamines, and opioids, was collected using questionnaires. The sleep outcomes in our logistic regression analysis were short (≤6 h) and long sleep (≥10 h) duration, difficulties initiating asleep, early morning awakenings, fatigue, and poor sleep quality (SQ). Results: Self-reported substance use was associated with a higher prevalence of sleep problems. After adjustments with age, gender, diagnostic group, and living status, hazardous alcohol use (eg, poor SQ odds ratio [OR] = 1.80, 95% CI: 1.49 to 2.16, P < .001), current smoking (short sleep duration OR = 1.28, 95% CI: 1.08 to 1.52, P = .005), and lifetime benzodiazepine misuse (difficulties initiating sleep OR = 2.00, 95% CI: 1.55 to 2.48, P < .001) were associated with sleep problems. Conclusions: Substance use was associated with sleep problems. Our findings underline the potential benefits of screening substance use when treating sleep problems in patients with psychotic disorders.
Published: 2022

4. Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

Author: Häkkinen, K. (Katja), Kiiski, J. I. (Johanna I.), Lähteenvuo, M. (Markku), Jukuri, T. (Tuomas), Suokas, K. (Kimmo), Niemi-Pynttäri, J. (Jussi), Kieseppä, T. (Tuula), Männynsalo, T. (Teemu), Wegelius, A. (Asko), Haaki, W. (Willehard), Lahdensuo, K. (Kaisla), Kajanne, R. (Risto), Kaunisto, M. A. (Mari A.), Tuulio-Henriksson, A. (Annamari), Kampman, O. (Olli), Hietala, J. (Jarmo), Veijola, J. (Juha), Lönnqvist, J. (Jouko), Isometsä, E. (Erkki), Paunio, T. (Tiina), Suvisaari, J. (Jaana), Kalso, E. (Eija), Niemi, M. (Mikko), Tiihonen, J. (Jari), Daly, M. (Mark), Palotie, A. (Aarno), Ahola-Olli, A. V. (Ari V.), Häkkinen, K. (Katja), Kiiski, J. I. (Johanna I.), Lähteenvuo, M. (Markku), Jukuri, T. (Tuomas), Suokas, K. (Kimmo), Niemi-Pynttäri, J. (Jussi), Kieseppä, T. (Tuula), Männynsalo, T. (Teemu), Wegelius, A. (Asko), Haaki, W. (Willehard), Lahdensuo, K. (Kaisla), Kajanne, R. (Risto), Kaunisto, M. A. (Mari A.), Tuulio-Henriksson, A. (Annamari), Kampman, O. (Olli), Hietala, J. (Jarmo), Veijola, J. (Juha), Lönnqvist, J. (Jouko), Isometsä, E. (Erkki), Paunio, T. (Tiina), Suvisaari, J. (Jaana), Kalso, E. (Eija), Niemi, M. (Mikko), Tiihonen, J. (Jari), Daly, M. (Mark), Palotie, A. (Aarno), and Ahola-Olli, A. V. (Ari V.)
Abstract: We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked population of Finland. We combined GWAS chip and CYP2D6 CNV data from the Breast Cancer Pain Genetics study to construct an imputation panel (n = 902) for CYP2D6 CNV. The resulting data set was used as a CYP2D6 CNV imputation panel in 9262 non-related individuals from the SUPER-Finland study. Based on imputation of 9262 individuals we confirm the higher frequency of CYP2D6 ultrarapid metabolizers and a 22-fold enrichment of the UGT1A1 decreased function variant rs4148323 (UGT1A1*6) in Finland compared with non-Finnish Europeans. Similarly, the NUDT15 variant rs116855232 was highly enriched in Finland. We demonstrate that imputation of CYP2D6 CNV is possible and the methodology enables studying CYP2D6 in large biobanks with genome-wide data.
Published: 2022

5. Sleep in psychotic disorders:results from nationwide SUPER Finland study

Author: Cederlöf, E. (Erik), Holm, M. (Minna), Lähteenvuo, M. (Markku), Haaki, W. (Willehard), Hietala, J. (Jarmo), Häkkinen, K. (Katja), Isometsä, E. (Erkki), Jukuri, T. (Tuomas), Kajanne, R. (Risto), Kampman, O. (Olli), Kieseppä, T. (Tuula), Lahdensuo, K. (Kaisla), Lönnqvist, J. (Jouko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Suvisaari, J. (Jaana), Tiihonen, J. (Jari), Turunen, H. (Hannu), Wegelius, A. (Asko), Veijola, J. (Juha), Palotie, A. (Aarno), Paunio, T. (Tiina), Cederlöf, E. (Erik), Holm, M. (Minna), Lähteenvuo, M. (Markku), Haaki, W. (Willehard), Hietala, J. (Jarmo), Häkkinen, K. (Katja), Isometsä, E. (Erkki), Jukuri, T. (Tuomas), Kajanne, R. (Risto), Kampman, O. (Olli), Kieseppä, T. (Tuula), Lahdensuo, K. (Kaisla), Lönnqvist, J. (Jouko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Suvisaari, J. (Jaana), Tiihonen, J. (Jari), Turunen, H. (Hannu), Wegelius, A. (Asko), Veijola, J. (Juha), Palotie, A. (Aarno), and Paunio, T. (Tiina)
Abstract: Objective: Characterizing sleep in patients with schizophrenia, schizoaffective disorder, bipolar disorder, and psychotic depression. Methods: This cross-sectional questionnaire study is based on the SUPER study sample, which is part of the Stanley Global Neuropsychiatric Genomics Initiative. The study is a multicentre, nationwide Finnish study consisting of patients (N = 8 623) both in primary and specialized health care. The main measurements were sleep duration, difficulties initiating sleep, early morning awakenings, and fatigue. These results were compared with a nationally representative sample of the Finnish population from the Health 2000 survey (N = 7 167) with frequency and logistic regression analyses. Results: Patients had more sleep problems compared with the general population, especially young and middle-aged patients (Difficulties initiating sleep in young patients odds ratio = 12.3, 95% CI 9.8–15.4). Long sleep duration was the most deviating property of the sleep characteristics, being particularly common among young patients with schizophrenia (odds ratio = 27.9, 95% CI 22.1–35.2, 47.4% vs 3.3% prevalence). All sleep problems were associated with worse subjective health. We also conducted a latent class analysis, resulting in a cluster relatively free of sleep problems (58% of patients), an insomnia symptom cluster (26%), and a hypersomnia symptom cluster (15%). Conclusions: In our sample, patients with psychotic disorders have more sleep problems—especially long sleep duration but also insomnia symptoms—compared with the general population. The patients can in a latent class analysis of their sleep symptoms be divided into groups with differing sleep profiles.
Published: 2022

6. Reaction time and visual memory in connection to alcohol use in persons with bipolar disorder

Author: Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Isometsä, E. T. (Erkki Tapio), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Ahola-Olli, A. (Ari), Hietala, J. (Jarmo), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Tiihonen, J. (Jari), Paunio, T. (Tiina), Vainio, S. J. (Seppo Juhani), Palotie, A. (Aarno), Niemelä, S. (Solja), Suvisaari, J. (Jaana), Veijola, J. (Juha), Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Isometsä, E. T. (Erkki Tapio), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Ahola-Olli, A. (Ari), Hietala, J. (Jarmo), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Tiihonen, J. (Jari), Paunio, T. (Tiina), Vainio, S. J. (Seppo Juhani), Palotie, A. (Aarno), Niemelä, S. (Solja), Suvisaari, J. (Jaana), and Veijola, J. (Juha)
Abstract: The purpose of this study was to explore the association of cognition with hazardous drinking and alcohol-related disorder in persons with bipolar disorder (BD). The study population included 1268 persons from Finland with bipolar disorder. Alcohol use was assessed through hazardous drinking and alcohol-related disorder including alcohol use disorder (AUD). Hazardous drinking was screened with the Alcohol Use Disorders Identification Test for Consumption (AUDIT-C) screening tool. Alcohol-related disorder diagnoses were obtained from the national registrar data. Participants performed two computerized tasks from the Cambridge Automated Neuropsychological Test Battery (CANTAB) on A tablet computer: the 5-choice serial reaction time task, or reaction time (RT) test and the Paired Associative Learning (PAL) test. Depressive symptoms were assessed with the Mental Health Inventory with five items (MHI-5). However, no assessment of current manic symptoms was available. Association between RT-test and alcohol use was analyzed with log-linear regression, and eβ with 95% confidence intervals (CI) are reported. PAL first trial memory score was analyzed with linear regression, and β with 95% CI are reported. PAL total errors adjusted was analyzed with logistic regression and odds ratios (OR) with 95% CI are reported. After adjustment of age, education, housing status and depression, hazardous drinking was associated with lower median and less variable RT in females while AUD was associated with a poorer PAL test performance in terms of the total errors adjusted scores in females. Our findings of positive associations between alcohol use and cognition in persons with bipolar disorder are difficult to explain because of the methodological flaw of not being able to separately assess only participants in euthymic phase.
Published: 2021

7. Reaction time and visual memory in connection to hazardous drinking polygenic scores in schizophrenia, schizoaffective disorder and bipolar disorder

Author: Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Isometsä, E. T. (Erkki Tapio), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Ahola-Olli, A. (Ari), Hietala, J. (Jarmo), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Tiihonen, J. (Jari), Paunio, T. (Tiina), Vainio, S. J. (Seppo Juhani), Palotie, A. (Aarno), Niemelä, S. (Solja), Suvisaari, J. (Jaana), Veijola, J. (Juha), Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Isometsä, E. T. (Erkki Tapio), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Ahola-Olli, A. (Ari), Hietala, J. (Jarmo), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Tiihonen, J. (Jari), Paunio, T. (Tiina), Vainio, S. J. (Seppo Juhani), Palotie, A. (Aarno), Niemelä, S. (Solja), Suvisaari, J. (Jaana), and Veijola, J. (Juha)
Abstract: The purpose of this study was to explore the association of cognition with hazardous drinking Polygenic Scores (PGS) in 2649 schizophrenia, 558 schizoaffective disorder, and 1125 bipolar disorder patients in Finland. Hazardous drinking PGS was computed using the LDPred program. Participants performed two computerized tasks from the Cambridge Automated Neuropsychological Test Battery (CANTAB) on a tablet computer: the 5-choice serial reaction time task, or Reaction Time (RT) test, and the Paired Associative Learning (PAL) test. The association between hazardous drinking PGS and cognition was measured using four cognition variables. Log-linear regression was used in Reaction Time (RT) assessment, and logistic regression was used in PAL assessment. All analyses were conducted separately for males and females. After adjustment of age, age of onset, education, household pattern, and depressive symptoms, hazardous drinking PGS was not associated with reaction time or visual memory in male or female patients with schizophrenia, schizoaffective, and bipolar disorder.
Published: 2021

8. Reaction time and visual memory in connection with alcohol use in schizophrenia and schizoaffective disorder

Author: Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Hietala, J. (Jarmo), Isometsä, E. T. (Erkki Tapio), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Niemelä, S. (Solja), Tiihonen, J. (Jari), Paunio, T. (Tiina), Palotie, A. (Aarno), Suvisaari, J. (Jaana), Veijola, J. (Juha), Mazumder, A. H. (Atiqul Haq), Barnett, J. (Jennifer), Lindberg, N. (Nina), Torniainen-Holm, M. (Minna), Lähteenvuo, M. (Markku), Lahdensuo, K. (Kaisla), Kerkelä, M. (Martta), Hietala, J. (Jarmo), Isometsä, E. T. (Erkki Tapio), Kampman, O. (Olli), Kieseppä, T. (Tuula), Jukuri, T. (Tuomas), Häkkinen, K. (Katja), Cederlöf, E. (Erik), Haaki, W. (Willehard), Kajanne, R. (Risto), Wegelius, A. (Asko), Männynsalo, T. (Teemu), Niemi-Pynttäri, J. (Jussi), Suokas, K. (Kimmo), Lönnqvist, J. (Jouko), Niemelä, S. (Solja), Tiihonen, J. (Jari), Paunio, T. (Tiina), Palotie, A. (Aarno), Suvisaari, J. (Jaana), and Veijola, J. (Juha)
Abstract: The purpose of this study was to explore the association between cognition and hazardous drinking and alcohol use disorder in schizophrenia and schizoaffective disorder. Cognition is more or less compromised in schizophrenia, and schizoaffective disorder and alcohol use might aggravate this phenomenon. The study population included 3362 individuals from Finland with diagnoses of schizophrenia or schizoaffective disorder. Hazardous drinking was screened with the AUDIT-C (Alcohol Use Disorders Identification Test for Consumption) screening tool. Alcohol use disorder (AUD) diagnoses were obtained from national registrar data. Participants performed two computerized tasks from the Cambridge Automated Neuropsychological Test Battery (CANTAB) on a tablet computer: The Five-Choice Serial Reaction Time Task (5-CSRTT) or the reaction time (RT) test and the Paired Associative Learning (PAL) test. The association between alcohol use and the RT and PAL tests was analyzed with log-linear regression and logistic regression, respectively. After adjustment for age, education, housing status, and the age at which the respondents had their first psychotic episodes, hazardous drinking was associated with a lower median RT in females and less variable RT in males, while AUD was associated with a poorer PAL test performance in terms of the total errors adjusted scores (TEASs) in females. Our findings of positive associations between alcohol and cognition in schizophrenia and schizoaffective disorder are unique.
Published: 2021

9. Age at first birth in women is genetically associated with increased risk of schizophrenia

Author: Ni, G. (Guiyan), Gratten, J. (Jacob), Wray, N.R. (Naomi R.), Lee, S.H. (Sang Hong), Ripke, S. (Stephan), Neale, B.M. (Benjamin), Corvin, A. (Aiden), Walters, J.T. (James), Farh, K.-H. (Kai-How), Holmans, P.A. (Peter A.), Lee, P.H. (Phil H.), Bulik-Sullivan, B.K. (Brendan), Collier, D.A. (David), Huang, H. (Hailiang), Pers, T.H. (Tune), Agartz, I. (Ingrid), Agerbo, E. (Esben), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Bacanu, S.A. (Silviu), Begemann, M. (Martin), Belliveau, R.A. (Richard A.), Bene, J. (Judit), Bergen, S.E. (Sarah), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan J.), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Chan, R.C.K. (Raymond C. K.), Chen, R.Y.L. (Ronald Y.), Chen, E.Y.H. (Eric Y. H.), Cheng, W. (Wei), Cheung, E.F.C. (Eric F. C.), Chong, S.A. (Siow Ann), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cohen, N. (Nadine), Cormican, P. (Paul), Craddock, N.J. (Nick), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Demontis, D. (Ditte), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Durmishi, N. (Naser), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedl, M., Friedman, J.I. (Joseph), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Golimbet, V. (Vera), Gopal, R. (Robin), Haan, L. (Lieuwe) de, Hammer, C. (Christian), Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M.), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Hollegaard, M.V. (Mads V), Hougaard, D.M. (David), Ikeda, M. (Masashi), Joa, I. (Inge), Juliá, A. (Antonio), Kahn, R. (René), Kalaydjieva, L. (Luba), Karachanak-Yankova, S. (Sena), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kennedy, J.L., Khrunin, A. (Andrey), Kim, Y. (Yunjung), Klovins, J. (Janis), Knowles, J.A. (James A), Konte, B. (Bettina), Kučinskas, V. (Vaidutis), Kucinskiene, Z.A. (Zita Ausrele), Kuzelova-Ptackova, H. (Hana), Kähler, J. (Jan), Laurent, C. (Camille), Keong, J.L.C. (Jimmy Lee Chee), Legge, S.E. (Sophie), Lerer, B. (Bernard), Li, M. (Miaoxin), Li, T. (Tao), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Limborska, S. (Svetlana), Loughland, C.M. (Carmel), Lubinski, J. (Jan), Lönnqvist, J. (Jouko), Macek, M. (Milan MI), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Marsal, S. (Sara), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melegh, B. (Bela), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W.), Mors, O., Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Müller-Myhsok, B. (B.), Nelis, M. (Mari), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nikitina-Zake, L. (Liene), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), O'neill, F.A. (F. Anthony), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), Os, J.V. (Jim Van), Pantelis, C. (Christos), Papadimitriou, G.N. (George), Papiol, S. (Sergi), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Pejovic-Milovancevic, M. (Milica), Perkins, D.O. (Diana O.), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Schall, J.D. (Jeffrey), Schubert, C.R. (Christian R.), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney J.), Seidman, L.J. (Larry), Shi, J. (Jianxin), Sigurdsson, E. (Engilbert), Silagadze, T. (Teimuraz), Silverman, J.M. (Jeremy M.), Sim, K. (Kang), Slominsky, P. (Petr), Smoller, J.W., So, H.-C. (Hon-Cheong), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Stogmann, E. (Elisabeth), Straub, R.E. (Richard), Strengman, E. (Eric), Strohmaier, J. (Jana), Stroup, T.S. (T. Scott), Subramaniam, V. (Venkat), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Söderman, E. (Erik), Thirumalai, S. (Srinivasa), Toncheva, D. (Draga), Tosato, S. (Sarah), Veijola, J. (Juha), Waddington, J. (John), Walsh, D. (Dermot), Wang, D. (Dai), Wang, Q. (Qiang), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wong, E.H.M. (Emily H.M.), Wormley, B.K. (Brandon K.), Xi, H.S. (Hualin Simon), Zai, C.C. (Clement C.), Zheng, X. (Xuebin), Zimprich, F. (Fritz), Zwart, J-A. (John-Anker), Visscher, P.M. (Peter), Adolfsson, R., Andreassen, O.A. (Ole), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D.), Borglum, A.D. (Anders), Cichon, S. (Sven), Darvasi, A. (Ariel), Domenici, E. (Enrico), Ehrenreich, H. (Hannelore), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Lencz, T. (Todd), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), Liu, J. (Jianjun), Malhotra, A.K. (Anil K), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L.), Mortensen, P.B., Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey L.), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sham, P.C. (Pak C.), Sklar, P. (Pamela), Clair, D.S., Weinberger, D.R. (Daniel), Wendland, A. (Annika), Werge, T.M. (Thomas), Daly, M.J. (Mark J.), Sullivan, P.F. (Patrick), O'donovan, M.C. (Michael), Ni, G. (Guiyan), Gratten, J. (Jacob), Wray, N.R. (Naomi R.), Lee, S.H. (Sang Hong), Ripke, S. (Stephan), Neale, B.M. (Benjamin), Corvin, A. (Aiden), Walters, J.T. (James), Farh, K.-H. (Kai-How), Holmans, P.A. (Peter A.), Lee, P.H. (Phil H.), Bulik-Sullivan, B.K. (Brendan), Collier, D.A. (David), Huang, H. (Hailiang), Pers, T.H. (Tune), Agartz, I. (Ingrid), Agerbo, E. (Esben), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Bacanu, S.A. (Silviu), Begemann, M. (Martin), Belliveau, R.A. (Richard A.), Bene, J. (Judit), Bergen, S.E. (Sarah), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan J.), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Chan, R.C.K. (Raymond C. K.), Chen, R.Y.L. (Ronald Y.), Chen, E.Y.H. (Eric Y. H.), Cheng, W. (Wei), Cheung, E.F.C. (Eric F. C.), Chong, S.A. (Siow Ann), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cohen, N. (Nadine), Cormican, P. (Paul), Craddock, N.J. (Nick), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Demontis, D. (Ditte), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Durmishi, N. (Naser), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedl, M., Friedman, J.I. (Joseph), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Golimbet, V. (Vera), Gopal, R. (Robin), Haan, L. (Lieuwe) de, Hammer, C. (Christian), Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M.), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Hollegaard, M.V. (Mads V), Hougaard, D.M. (David), Ikeda, M. (Masashi), Joa, I. (Inge), Juliá, A. (Antonio), Kahn, R. (René), Kalaydjieva, L. (Luba), Karachanak-Yankova, S. (Sena), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kennedy, J.L., Khrunin, A. (Andrey), Kim, Y. (Yunjung), Klovins, J. (Janis), Knowles, J.A. (James A), Konte, B. (Bettina), Kučinskas, V. (Vaidutis), Kucinskiene, Z.A. (Zita Ausrele), Kuzelova-Ptackova, H. (Hana), Kähler, J. (Jan), Laurent, C. (Camille), Keong, J.L.C. (Jimmy Lee Chee), Legge, S.E. (Sophie), Lerer, B. (Bernard), Li, M. (Miaoxin), Li, T. (Tao), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Limborska, S. (Svetlana), Loughland, C.M. (Carmel), Lubinski, J. (Jan), Lönnqvist, J. (Jouko), Macek, M. (Milan MI), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Marsal, S. (Sara), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melegh, B. (Bela), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W.), Mors, O., Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Müller-Myhsok, B. (B.), Nelis, M. (Mari), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nikitina-Zake, L. (Liene), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), O'neill, F.A. (F. Anthony), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), Os, J.V. (Jim Van), Pantelis, C. (Christos), Papadimitriou, G.N. (George), Papiol, S. (Sergi), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Pejovic-Milovancevic, M. (Milica), Perkins, D.O. (Diana O.), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Schall, J.D. (Jeffrey), Schubert, C.R. (Christian R.), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney J.), Seidman, L.J. (Larry), Shi, J. (Jianxin), Sigurdsson, E. (Engilbert), Silagadze, T. (Teimuraz), Silverman, J.M. (Jeremy M.), Sim, K. (Kang), Slominsky, P. (Petr), Smoller, J.W., So, H.-C. (Hon-Cheong), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Stogmann, E. (Elisabeth), Straub, R.E. (Richard), Strengman, E. (Eric), Strohmaier, J. (Jana), Stroup, T.S. (T. Scott), Subramaniam, V. (Venkat), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Söderman, E. (Erik), Thirumalai, S. (Srinivasa), Toncheva, D. (Draga), Tosato, S. (Sarah), Veijola, J. (Juha), Waddington, J. (John), Walsh, D. (Dermot), Wang, D. (Dai), Wang, Q. (Qiang), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wong, E.H.M. (Emily H.M.), Wormley, B.K. (Brandon K.), Xi, H.S. (Hualin Simon), Zai, C.C. (Clement C.), Zheng, X. (Xuebin), Zimprich, F. (Fritz), Zwart, J-A. (John-Anker), Visscher, P.M. (Peter), Adolfsson, R., Andreassen, O.A. (Ole), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D.), Borglum, A.D. (Anders), Cichon, S. (Sven), Darvasi, A. (Ariel), Domenici, E. (Enrico), Ehrenreich, H. (Hannelore), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Lencz, T. (Todd), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), Liu, J. (Jianjun), Malhotra, A.K. (Anil K), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L.), Mortensen, P.B., Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey L.), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sham, P.C. (Pak C.), Sklar, P. (Pamela), Clair, D.S., Weinberger, D.R. (Daniel), Wendland, A. (Annika), Werge, T.M. (Thomas), Daly, M.J. (Mark J.), Sullivan, P.F. (Patrick), and O'donovan, M.C. (Michael)
Abstract: Previous studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia
Published: 2018
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10. Interaction between compound genetic risk for schizophrenia and high birth weight contributes to social anhedonia and schizophrenia in women

Author: Liuhanen, J. (Johanna), Suvisaari, J. (Jaana), Kajantie, E. (Eero), Miettunen, J. (Jouko), Sarin, A.-P. (Antti-Pekka), Järvelin, M.-R. (Marjo-Riitta), Lönnqvist, J. (Jouko), Veijola, J. (Juha), Paunio, T. (Tiina), Liuhanen, J. (Johanna), Suvisaari, J. (Jaana), Kajantie, E. (Eero), Miettunen, J. (Jouko), Sarin, A.-P. (Antti-Pekka), Järvelin, M.-R. (Marjo-Riitta), Lönnqvist, J. (Jouko), Veijola, J. (Juha), and Paunio, T. (Tiina)
Abstract: Schizophrenia is a highly heritable disease, but despite extensive study, its genetic background remains unresolved. The lack of environmental measures in genetic studies may offer some explanation. In recent Finnish studies, high birth weight was found to increase the risk for familial schizophrenia. We examined the interaction between a polygenic risk score for schizophrenia and high birth weight on social anhedonia and schizophrenia in a general population birth cohort. The study sample included 4223 participants from the 1966 Northern Finland Birth Cohort. As a replication sample we used 256 participants from a systematically collected sample of Finnish schizophrenia families. The polygenic risk score comprised of variants published in the large genome-wide meta-analysis for schizophrenia. We found the association between the polygenic risk score and social anhedonia stronger among those with high birth weight, and the same phenomenon was seen for schizophrenia among women, suggesting a gene-environment interaction. Similar results were found within the replication sample. Our results suggest a role for gene-environment interactions in assessing the risk of schizophrenia. Failure to take environmental effects into account may be one of the reasons why identifying significant SNPs for schizophrenia in genome-wide studies has been challenging.
Published: 2018

11. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Author: Marshall, C.R. (Christian), Howrigan, D.P. (Daniel P.), Merico, D. (Daniele), Thiruvahindrapuram, B. (Bhooma), Wu, W. (Wenting), Greer, D.S. (Douglas S.), Antaki, D. (Danny), Shetty, A. (Aniket), Holmans, P.A. (Peter A.), Pinto, D. (Duane), Gujral, M. (Madhusudan), Brandler, W.M. (William M.), Malhotra, D. (Dheeraj), Wang, Z. (Zhouzhi), Fuentes Fajarado, K.V. (Karin V.), Maile, M.S. (Michelle S.), Ripke, S. (Stephan), Agartz, I. (Ingrid), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Atkins, J. (Joshua), Bacanu, S.A. (Silviu), Belliveau, R.A. (Richard A.), Bergen, S.E. (Sarah), Bertalan, M. (Marcelo), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Bulik-Sullivan, B.K. (Brendan), Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Cairns, M.J. (Murray J.), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Cheng, W. (Wei), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cormican, P. (Paul), Craddock, N.J. (Nick), Crespo-Facorro, B. (Benedicto), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Delisi, L.E. (Lynn), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farh, K.-H. (Kai-How), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedman, J.I. (Joseph), Forstner, A.J. (Andreas), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Gershon, E.S. (Elliot S.), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Gratten, J. (Jacob), Haan, L. (Lieuwe) de, Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Huang, H. (Hailiang), Ikeda, M. (Masashi), Joa, I. (Inge), Kähler, J. (Jan), Kahn, R. (René), Kalaydjieva, L. (Luba), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kelly, B.J. (Brian J.), Kennedy, J.L., Kim, Y. (Yunjung), Knowles, J.A. (James A), Konte, B. (Bettina), Laurent, C. (Camille), Lee, P.H. (Phil), Lee, S.U. (Seung), Legge, S.E. (Sophie), Lerer, B. (Bernard), Levy, D.L. (Deborah L.), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Lönnqvist, J. (Jouko), Loughland, C.M. (Carmel), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W), Müller-Myhsok, B. (B.), Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), O'Neill, F.A. (Francis), Os, J. (Jim) van, Pantelis, C. (Christos), Papadimitriou, G.N. (George), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Perkins, D.O. (Diana O.), Pers, T.H. (Tune), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Savitz, A. (Adam), Schall, J.D. (Jeffrey), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney), Seidman, L.J. (Larry), Shi, J. (Jianxin), Silverman, J.M. (Jeremy M.), Smoller, J.W., Söderman, E. (Erik), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Strengman, E. (Eric), Strohmaier, J., Stroup, T.S. (T. Scott), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Thirumalai, S. (Srinivasa), Tooney, P.A. (Paul A.), Veijola, J. (Juha), Visscher, P.M. (Peter), Waddington, J. (Joanne), Walsh, D. (Dermot), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wormley, B.K. (Brandon K.), Wray, N.R. (Naomi), Wu, J.Q. (Jing Qin), Zai, C.C. (Clement), Adolfsson, R., Andreassen, O.A. (Ole A.), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D), Cichon, S. (Sven), Collier, D.A. (David), Corvin, A. (Aiden), Daly, M.J. (Mark J.), Darvasi, A. (Ariel), Domenici, E. (Enrico), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L), Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel A.), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sklar, P. (Pamela), St Clair, D. (David), Walters, J.T. (James), Werge, T.M. (Thomas), Sullivan, P.F. (Patrick), O'donovan, M.C. (Michael), Scherer, S.W. (Stephen), Neale, B.M. (Benjamin), Sebat, J. (Jonathan), Marshall, C.R. (Christian), Howrigan, D.P. (Daniel P.), Merico, D. (Daniele), Thiruvahindrapuram, B. (Bhooma), Wu, W. (Wenting), Greer, D.S. (Douglas S.), Antaki, D. (Danny), Shetty, A. (Aniket), Holmans, P.A. (Peter A.), Pinto, D. (Duane), Gujral, M. (Madhusudan), Brandler, W.M. (William M.), Malhotra, D. (Dheeraj), Wang, Z. (Zhouzhi), Fuentes Fajarado, K.V. (Karin V.), Maile, M.S. (Michelle S.), Ripke, S. (Stephan), Agartz, I. (Ingrid), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Atkins, J. (Joshua), Bacanu, S.A. (Silviu), Belliveau, R.A. (Richard A.), Bergen, S.E. (Sarah), Bertalan, M. (Marcelo), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Bulik-Sullivan, B.K. (Brendan), Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Cairns, M.J. (Murray J.), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Cheng, W. (Wei), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cormican, P. (Paul), Craddock, N.J. (Nick), Crespo-Facorro, B. (Benedicto), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Delisi, L.E. (Lynn), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farh, K.-H. (Kai-How), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedman, J.I. (Joseph), Forstner, A.J. (Andreas), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Gershon, E.S. (Elliot S.), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Gratten, J. (Jacob), Haan, L. (Lieuwe) de, Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Huang, H. (Hailiang), Ikeda, M. (Masashi), Joa, I. (Inge), Kähler, J. (Jan), Kahn, R. (René), Kalaydjieva, L. (Luba), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kelly, B.J. (Brian J.), Kennedy, J.L., Kim, Y. (Yunjung), Knowles, J.A. (James A), Konte, B. (Bettina), Laurent, C. (Camille), Lee, P.H. (Phil), Lee, S.U. (Seung), Legge, S.E. (Sophie), Lerer, B. (Bernard), Levy, D.L. (Deborah L.), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Lönnqvist, J. (Jouko), Loughland, C.M. (Carmel), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W), Müller-Myhsok, B. (B.), Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), O'Neill, F.A. (Francis), Os, J. (Jim) van, Pantelis, C. (Christos), Papadimitriou, G.N. (George), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Perkins, D.O. (Diana O.), Pers, T.H. (Tune), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Savitz, A. (Adam), Schall, J.D. (Jeffrey), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney), Seidman, L.J. (Larry), Shi, J. (Jianxin), Silverman, J.M. (Jeremy M.), Smoller, J.W., Söderman, E. (Erik), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Strengman, E. (Eric), Strohmaier, J., Stroup, T.S. (T. Scott), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Thirumalai, S. (Srinivasa), Tooney, P.A. (Paul A.), Veijola, J. (Juha), Visscher, P.M. (Peter), Waddington, J. (Joanne), Walsh, D. (Dermot), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wormley, B.K. (Brandon K.), Wray, N.R. (Naomi), Wu, J.Q. (Jing Qin), Zai, C.C. (Clement), Adolfsson, R., Andreassen, O.A. (Ole A.), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D), Cichon, S. (Sven), Collier, D.A. (David), Corvin, A. (Aiden), Daly, M.J. (Mark J.), Darvasi, A. (Ariel), Domenici, E. (Enrico), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L), Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel A.), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sklar, P. (Pamela), St Clair, D. (David), Walters, J.T. (James), Werge, T.M. (Thomas), Sullivan, P.F. (Patrick), O'donovan, M.C. (Michael), Scherer, S.W. (Stephen), Neale, B.M. (Benjamin), and Sebat, J. (Jonathan)
Abstract: Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
Published: 2017
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12. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Author: Huang, J. (Jie), Howie, B. (Bryan), McCarthy, S. (Shane), Memari, Y. (Yasin), Walter, K. (Klaudia), Min, J.L. (Josine L.), Danecek, P. (Petr), Malerba, G. (Giovanni), Trabetti, E. (Elisabetta), Zheng, H.-F. (Hou-Feng), Gambaro, G. (Giovanni), Richards, J.B. (Brent), Durbin, R. (Richard), Timpson, N.J. (Nicholas), Marchini, J. (Jonathan), Soranzo, N. (Nicole), Al Turki, S.H. (Saeed), Amuzu, A. (Antoinette), Anderson, C. (Carl), Anney, R. (Richard), Antony, D. (Dinu), Artigas, M.S., Ayub, M. (Muhammad), Bala, S. (Senduran), Barrett, J.C. (Jeffrey), Barroso, I.E. (Inês), Beales, P.L. (Philip), Benn, M. (Marianne), Bentham, J. (Jamie), Bhattacharya, S. (Shoumo), Birney, E. (Ewan), Blackwood, D.H.R. (Douglas), Bobrow, M. (Martin), Bochukova, E. (Elena), Bolton, P.F. (Patrick F.), Bounds, R. (Rebecca), Boustred, C. (Chris), Breen, G. (Gerome), Calissano, M. (Mattia), Carss, K. (Keren), Casas, J.P. (Juan Pablo), Chambers, J.C. (John C.), Charlton, R. (Ruth), Chatterjee, K. (Krishna), Chen, L. (Lu), Ciampi, A. (Antonio), Cirak, S. (Sebahattin), Clapham, P. (Peter), Clement, G. (Gail), Coates, G. (Guy), Cocca, M. (Massimiliano), Collier, D.A. (David), Cosgrove, C. (Catherine), Cox, T. (Tony), Craddock, N.J. (Nick), Crooks, L. (Lucy), Curran, S. (Sarah), Curtis, D. (David), Daly, A. (Allan), Day, I.N.M. (Ian N.M.), Day-Williams, A.G. (Aaron), Dedoussis, G.V. (George), Down, T. (Thomas), Du, Y. (Yuanping), Duijn, C.M. (Cornelia) van, Dunham, I. (Ian), Edkins, T. (Ted), Ekong, R. (Rosemary), Ellis, P. (Peter), Evans, D.M. (David), Farooqi, I.S. (I. Sadaf), Fitzpatrick, D.R. (David R.), Flicek, P. (Paul), Floyd, J. (James), Foley, A.R. (A. Reghan), Franklin, C.S. (Christopher S.), Futema, M. (Marta), Gallagher, L. (Louise), Gasparini, P. (Paolo), Gaunt, T.R. (Tom), Geihs, M. (Matthias), Geschwind, D. (Daniel), Greenwood, C.M.T. (Celia), Griffin, H. (Heather), Grozeva, D. (Detelina), Guo, X. (Xiaosen), Guo, X. (Xueqin), Gurling, H. (Hugh), Hart, D. (Deborah), Hendricks, A.E. (Audrey E.), Holmans, P.A. (Peter A.), Huang, L. (Liren), Hubbard, T. (Tim), Humphries, S.E. (Steve E.), Hurles, M.E. (Matthew), Hysi, P.G. (Pirro), Iotchkova, V. (Valentina), Isaacs, A. (Aaron), Jackson, D.K. (David K.), Jamshidi, Y. (Yalda), Johnson, J. (Jon), Joyce, C. (Chris), Karczewski, K.J. (Konrad), Kaye, J. (Jane), Keane, T. (Thomas), Kemp, J.P. (John), Kennedy, K. (Karen), Kent, A. (Alastair), Keogh, J. (Julia), Khawaja, F. (Farrah), Kleber, M.E. (Marcus), Van Kogelenberg, M. (Margriet), Kolb-Kokocinski, A. (Anja), Kooner, J.S. (Jaspal S.), Lachance, G. (Genevieve), Langenberg, C. (Claudia), Langford, C. (Cordelia), Lawson, D. (Daniel), Lee, I. (Irene), Leeuwen, E.M. (Elisa) van, Lek, M. (Monkol), Li, R. (Rui), Li, Y. (Yingrui), Liang, J. (Jieqin), Lin, H. (Hong), Liu, R. (Ryan), Lönnqvist, J. (Jouko), Lopes, L.R. (Luis R.), Lopes, M.C. (Margarida), Luan, J., MacArthur, D.G. (Daniel G.), Mangino, M. (Massimo), Marenne, G. (Gaëlle), März, W. (Winfried), Maslen, J. (John), Matchan, A. (Angela), Mathieson, I. (Iain), McGuffin, P. (Peter), McIntosh, A.M. (Andrew), McKechanie, A.G. (Andrew G.), McQuillin, A. (Andrew), Metrustry, S. (Sarah), Migone, N. (Nicola), Mitchison, H.M. (Hannah M.), Moayyeri, A. (Alireza), Morris, J. (James), Morris, R.W. (Richard), Muddyman, D. (Dawn), Muntoni, F., Nordestgaard, B.G. (Børge G.), Northstone, K. (Kate), O'donovan, M.C. (Michael), O'Rahilly, S. (Stephen), Onoufriadis, A. (Alexandros), Oualkacha, K. (Karim), Owen, M.J. (Michael J.), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Parker, V. (Victoria), Parr, J.R. (Jeremy R.), Paternoster, L. (Lavinia), Paunio, T. (Tiina), Payne, F. (Felicity), Payne, S.J. (Stewart J.), Perry, J.R.B. (John), Pietiläinen, O.P.H. (Olli), Plagnol, V. (Vincent), Pollitt, R.C. (Rebecca C.), Povey, S. (Sue), Quail, M.A. (Michael A.), Quaye, L. (Lydia), Raymond, L. (Lucy), Rehnström, K. (Karola), Ridout, C.K. (Cheryl K.), Ring, S.M. (Susan), Ritchie, G.R.S. (Graham R.S.), Roberts, N. (Nicola), Robinson, R.L. (Rachel L.), Savage, D.B. (David), Scambler, P.J. (Peter), Schiffels, S. (Stephan), Schmidts, M. (Miriam), Schoenmakers, N. (Nadia), Scott, R.H. (Richard H.), Scott, R.A. (Robert), Semple, R.K. (Robert K.), Serra, E. (Eva), Sharp, S.I. (Sally I.), Shaw, A.C. (Adam C.), Shihab, H.A. (Hashem A.), Shin, S.-Y. (So-Youn), Skuse, D. (David), Small, K.S. (Kerrin), Smee, C. (Carol), Smith, A.V. (Davey), Southam, L. (Lorraine), Spasic-Boskovic, O. (Olivera), Spector, T.D. (Timothy), St. Clair, D. (David), St Pourcain, B. (Beate), Stalker, J. (Jim), Stevens, E. (Elizabeth), Sun, J. (Jianping), Surdulescu, G. (Gabriela), Suvisaari, J. (Jaana), Syrris, P. (Petros), Tachmazidou, I. (Ioanna), Taylor, R. (Rohan), Tian, J. (Jing), Tobin, M.D. (Martin), Toniolo, D. (Daniela), Traglia, M. (Michela), Tybjaerg-Hansen, A. (Anne), Valdes, A.M., Vandersteen, A.M. (Anthony M.), Varbo, A. (Anette), Vijayarangakannan, P. (Parthiban), Visscher, P.M. (Peter), Wain, L.V. (Louise), Walters, J.T. (James), Wang, G. (Guangbiao), Wang, J. (Jun), Wang, Y. (Yu), Ward, K. (Kirsten), Wheeler, E. (Eleanor), Whincup, P.H. (Peter), Whyte, T. (Tamieka), Williams, H.J. (Hywel J.), Williamson, K.A. (Kathleen), Wilson, C. (Crispian), Wilson, S.G. (Scott), Wong, K. (Kim), Xu, C. (Changjiang), Yang, J. (Jian), Zaza, G. (Gianluigi), Zeggini, E. (Eleftheria), Zhang, F. (Feng), Zhang, P. (Pingbo), Zhang, W. (Weihua), Huang, J. (Jie), Howie, B. (Bryan), McCarthy, S. (Shane), Memari, Y. (Yasin), Walter, K. (Klaudia), Min, J.L. (Josine L.), Danecek, P. (Petr), Malerba, G. (Giovanni), Trabetti, E. (Elisabetta), Zheng, H.-F. (Hou-Feng), Gambaro, G. (Giovanni), Richards, J.B. (Brent), Durbin, R. (Richard), Timpson, N.J. (Nicholas), Marchini, J. (Jonathan), Soranzo, N. (Nicole), Al Turki, S.H. (Saeed), Amuzu, A. (Antoinette), Anderson, C. (Carl), Anney, R. (Richard), Antony, D. (Dinu), Artigas, M.S., Ayub, M. (Muhammad), Bala, S. (Senduran), Barrett, J.C. (Jeffrey), Barroso, I.E. (Inês), Beales, P.L. (Philip), Benn, M. (Marianne), Bentham, J. (Jamie), Bhattacharya, S. (Shoumo), Birney, E. (Ewan), Blackwood, D.H.R. (Douglas), Bobrow, M. (Martin), Bochukova, E. (Elena), Bolton, P.F. (Patrick F.), Bounds, R. (Rebecca), Boustred, C. (Chris), Breen, G. (Gerome), Calissano, M. (Mattia), Carss, K. (Keren), Casas, J.P. (Juan Pablo), Chambers, J.C. (John C.), Charlton, R. (Ruth), Chatterjee, K. (Krishna), Chen, L. (Lu), Ciampi, A. (Antonio), Cirak, S. (Sebahattin), Clapham, P. (Peter), Clement, G. (Gail), Coates, G. (Guy), Cocca, M. (Massimiliano), Collier, D.A. (David), Cosgrove, C. (Catherine), Cox, T. (Tony), Craddock, N.J. (Nick), Crooks, L. (Lucy), Curran, S. (Sarah), Curtis, D. (David), Daly, A. (Allan), Day, I.N.M. (Ian N.M.), Day-Williams, A.G. (Aaron), Dedoussis, G.V. (George), Down, T. (Thomas), Du, Y. (Yuanping), Duijn, C.M. (Cornelia) van, Dunham, I. (Ian), Edkins, T. (Ted), Ekong, R. (Rosemary), Ellis, P. (Peter), Evans, D.M. (David), Farooqi, I.S. (I. Sadaf), Fitzpatrick, D.R. (David R.), Flicek, P. (Paul), Floyd, J. (James), Foley, A.R. (A. Reghan), Franklin, C.S. (Christopher S.), Futema, M. (Marta), Gallagher, L. (Louise), Gasparini, P. (Paolo), Gaunt, T.R. (Tom), Geihs, M. (Matthias), Geschwind, D. (Daniel), Greenwood, C.M.T. (Celia), Griffin, H. (Heather), Grozeva, D. (Detelina), Guo, X. (Xiaosen), Guo, X. (Xueqin), Gurling, H. (Hugh), Hart, D. (Deborah), Hendricks, A.E. (Audrey E.), Holmans, P.A. (Peter A.), Huang, L. (Liren), Hubbard, T. (Tim), Humphries, S.E. (Steve E.), Hurles, M.E. (Matthew), Hysi, P.G. (Pirro), Iotchkova, V. (Valentina), Isaacs, A. (Aaron), Jackson, D.K. (David K.), Jamshidi, Y. (Yalda), Johnson, J. (Jon), Joyce, C. (Chris), Karczewski, K.J. (Konrad), Kaye, J. (Jane), Keane, T. (Thomas), Kemp, J.P. (John), Kennedy, K. (Karen), Kent, A. (Alastair), Keogh, J. (Julia), Khawaja, F. (Farrah), Kleber, M.E. (Marcus), Van Kogelenberg, M. (Margriet), Kolb-Kokocinski, A. (Anja), Kooner, J.S. (Jaspal S.), Lachance, G. (Genevieve), Langenberg, C. (Claudia), Langford, C. (Cordelia), Lawson, D. (Daniel), Lee, I. (Irene), Leeuwen, E.M. (Elisa) van, Lek, M. (Monkol), Li, R. (Rui), Li, Y. (Yingrui), Liang, J. (Jieqin), Lin, H. (Hong), Liu, R. (Ryan), Lönnqvist, J. (Jouko), Lopes, L.R. (Luis R.), Lopes, M.C. (Margarida), Luan, J., MacArthur, D.G. (Daniel G.), Mangino, M. (Massimo), Marenne, G. (Gaëlle), März, W. (Winfried), Maslen, J. (John), Matchan, A. (Angela), Mathieson, I. (Iain), McGuffin, P. (Peter), McIntosh, A.M. (Andrew), McKechanie, A.G. (Andrew G.), McQuillin, A. (Andrew), Metrustry, S. (Sarah), Migone, N. (Nicola), Mitchison, H.M. (Hannah M.), Moayyeri, A. (Alireza), Morris, J. (James), Morris, R.W. (Richard), Muddyman, D. (Dawn), Muntoni, F., Nordestgaard, B.G. (Børge G.), Northstone, K. (Kate), O'donovan, M.C. (Michael), O'Rahilly, S. (Stephen), Onoufriadis, A. (Alexandros), Oualkacha, K. (Karim), Owen, M.J. (Michael J.), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Parker, V. (Victoria), Parr, J.R. (Jeremy R.), Paternoster, L. (Lavinia), Paunio, T. (Tiina), Payne, F. (Felicity), Payne, S.J. (Stewart J.), Perry, J.R.B. (John), Pietiläinen, O.P.H. (Olli), Plagnol, V. (Vincent), Pollitt, R.C. (Rebecca C.), Povey, S. (Sue), Quail, M.A. (Michael A.), Quaye, L. (Lydia), Raymond, L. (Lucy), Rehnström, K. (Karola), Ridout, C.K. (Cheryl K.), Ring, S.M. (Susan), Ritchie, G.R.S. (Graham R.S.), Roberts, N. (Nicola), Robinson, R.L. (Rachel L.), Savage, D.B. (David), Scambler, P.J. (Peter), Schiffels, S. (Stephan), Schmidts, M. (Miriam), Schoenmakers, N. (Nadia), Scott, R.H. (Richard H.), Scott, R.A. (Robert), Semple, R.K. (Robert K.), Serra, E. (Eva), Sharp, S.I. (Sally I.), Shaw, A.C. (Adam C.), Shihab, H.A. (Hashem A.), Shin, S.-Y. (So-Youn), Skuse, D. (David), Small, K.S. (Kerrin), Smee, C. (Carol), Smith, A.V. (Davey), Southam, L. (Lorraine), Spasic-Boskovic, O. (Olivera), Spector, T.D. (Timothy), St. Clair, D. (David), St Pourcain, B. (Beate), Stalker, J. (Jim), Stevens, E. (Elizabeth), Sun, J. (Jianping), Surdulescu, G. (Gabriela), Suvisaari, J. (Jaana), Syrris, P. (Petros), Tachmazidou, I. (Ioanna), Taylor, R. (Rohan), Tian, J. (Jing), Tobin, M.D. (Martin), Toniolo, D. (Daniela), Traglia, M. (Michela), Tybjaerg-Hansen, A. (Anne), Valdes, A.M., Vandersteen, A.M. (Anthony M.), Varbo, A. (Anette), Vijayarangakannan, P. (Parthiban), Visscher, P.M. (Peter), Wain, L.V. (Louise), Walters, J.T. (James), Wang, G. (Guangbiao), Wang, J. (Jun), Wang, Y. (Yu), Ward, K. (Kirsten), Wheeler, E. (Eleanor), Whincup, P.H. (Peter), Whyte, T. (Tamieka), Williams, H.J. (Hywel J.), Williamson, K.A. (Kathleen), Wilson, C. (Crispian), Wilson, S.G. (Scott), Wong, K. (Kim), Xu, C. (Changjiang), Yang, J. (Jian), Zaza, G. (Gianluigi), Zeggini, E. (Eleftheria), Zhang, F. (Feng), Zhang, P. (Pingbo), and Zhang, W. (Weihua)
Abstract: Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this
Published: 2015
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12 results on '"Paunio, T. (Tiina)"'

1. Cohort profile:SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders

2. Myötätunto ja itsemyötätunto lääkärin työssä

3. Substance use and sleep problems in patients with psychotic disorders

4. Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

5. Sleep in psychotic disorders:results from nationwide SUPER Finland study

6. Reaction time and visual memory in connection to alcohol use in persons with bipolar disorder

7. Reaction time and visual memory in connection to hazardous drinking polygenic scores in schizophrenia, schizoaffective disorder and bipolar disorder

8. Reaction time and visual memory in connection with alcohol use in schizophrenia and schizoaffective disorder

9. Age at first birth in women is genetically associated with increased risk of schizophrenia

10. Interaction between compound genetic risk for schizophrenia and high birth weight contributes to social anhedonia and schizophrenia in women

11. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

12. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

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12 results on '"Paunio, T. (Tiina)"'

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