Psychiatric Genomics Consortium summary statistics for major psychiatric disorders
English
United States, Graham
PGC
数据描述
The Psychiatric Genomics Consortium (PGC) dataset provides summary statistics from genomic analyses designed to increase understanding of the fundamental basis of major psychiatric disorders. Provided on an "as-is" basis, the data is intended strictly for scientific research, with any commercial or for-profit applications requiring prior permission from the PGC Data Access Committee. The dataset prohibits attempts to identify contributing participants, cross-posting of the data to other platforms, and the development of risk or predictive tests for unborn individuals. Predictive tests for children or adults must acknowledge that the application is experimental and that psychiatric disorders possess significant non-genetic etiological components. Investigators are required to cite relevant PGC publications and adhere to the Fort Lauderdale principles regarding data use prior to publication.
pgc.unc.edu
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Two decades of genetic studies in autism spectrum disorder (ASD) have identified more than 100 genes harbouring rare risk mutations1–13. Despite this substantial heterogeneity, transcriptomic and epigenetic analyses have identified convergent patterns of dysregulation across the ASD postmortem ...
Cellular neuroscienceDisease model
10.1038/S41586-025-10047-5
ISSN:0028-0836
Divergent biological pathways linking short and long sleep durations to mental and physical health
Yuzhu Li•Weikang Gong•Barbara J. Sahakian•Shuyi Huang•Wei Zhang等 12 人
Nature Mental Health
2025
•2025/3/3
•00 p.1-15
Short and long sleep durations are associated with multiple physical, psychiatric and neurodegenerative diseases, yet their potentially shared and distinct biological mechanisms remain unclear. Here, using data from UK Biobank participants aged 38–73 years, we have characterized the in-depth genetic...
Genetic association studyPsychiatric disordersSleep
10.1038/S44220-025-00395-6
ISSN:2731-6076
Investigating the effects of genetic risk of schizophrenia on behavioural traits
Adam Socrates•Jessye Maxwell•Kylie P. Glanville•Marta Di Forti•Robin M. Murray等 7 人
Npj Schizophrenia
2021
•2021/1/22
•Vol.7 No.1 p.1-9
To characterise the trait-effects of increased genetic risk for schizophrenia, and highlight potential risk mediators, we test the association between schizophrenia polygenic risk scores (PRSs) and 529 behavioural traits (personality, psychological, lifestyle, nutritional) in the UK Biobank. Our pri...
BiomarkersSchizophrenia
10.1038/S41537-020-00131-2
ISSN:2334-265X
The impact of genetic risk for schizophrenia on eating disorder clinical presentations
Ruyue Zhang•Ralf Kuja-Halkola•Stina Borg•Virpi Leppä•Laura M. Thornton等 8 人
Translational Psychiatry
2023
•2023/11/29
•Vol.13 No.1 p.1-7
A growing body of literature recognizes associations between eating disorders (EDs) and schizophrenia and suggests that familial liability to schizophrenia in individuals with anorexia nervosa (AN) reveals distinct patterns of clinical outcomes. To further investigate the influence of schizophrenia ...
Clinical geneticsHuman behaviour
10.1038/S41398-023-02672-3
ISSN:2158-3188
Examining the source of increased bipolar disorder and major depressive disorder common risk variation burden in multiplex schizophrenia families
Ahangari Mohammad•Kirkpatrick Robert•Nguyen Tan-Hoang•Gillespie Nathan•Kendler Kenneth S.等 9 人
Schizophrenia
2022
•2022/11/25
•Vol.8 No.1 p.1-9
Psychotic and affective disorders often aggregate in the relatives of probands with schizophrenia, and genetic studies show substantial genetic correlation among schizophrenia, bipolar disorder, and major depressive disorder. In this study, we examined the polygenic risk burden of bipolar disorder a...
PsychosisSchizophrenia
10.1038/S41537-022-00317-W
ISSN:2754-6993
The brain structure, immunometabolic and genetic mechanisms underlying the association between lifestyle and depression
Yujie Zhao•Liu Yang•Barbara J. Sahakian•Christelle Langley•Wei Zhang等 13 人
Nature Mental Health
2023
•2023/9/11
•00 p.1-15
Lifestyle factors have been acknowledged to be modifiable targets that can be used to counter the increasing prevalence of depression. This study aims to investigate combining an extensive range of lifestyle factors, including alcohol consumption, diet, physical activity, sleep, smoking, sedentary b...
Brain imagingDepressionLifestyle modificationRisk factors
10.1038/S44220-023-00120-1
ISSN:2731-6076
Exploring the causal effects of genetic liability to ADHD and Autism on Alzheimer’s disease
Pagoni Panagiota•Dardani Christina•Leppert Beate•Korologou-Linden Roxanna•Smith George Davey等 8 人
Translational Psychiatry
2022
•2022/10/1
•Vol.12 No.1 p.1-7
Few studies suggest possible links between attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and Alzheimer’s disease but they have been limited by small sample sizes, diagnostic and recall bias. We used two-sample Mendelian randomization (MR) to estimate the bidirection...
ADHDAutism spectrum disorders
10.1038/S41398-022-02150-2
ISSN:2158-3188
Evaluating the role of common risk variation in the recurrence risk of schizophrenia in multiplex schizophrenia families
Ahangari Mohammad•Gentry Amanda E.•Nguyen Tan-Hoang•Kirkpatrick Robert•Verrelli Brian C.等 9 人
Translational Psychiatry
2022
•2022/7/21
•Vol.12 No.1 p.1-7
Multiplex families have higher recurrence risk of schizophrenia compared to the families of sporadic cases, but the source of this increased recurrence risk is unknown. We used schizophrenia genome-wide association study data (N = 156,509) to construct polygenic risk scores (PRS) in 1005 individuals...
Clinical geneticsSchizophrenia
10.1038/S41398-022-02060-3
ISSN:2158-3188
Cross-ancestry genetic architecture reveals shared biological pathways of major psychiatric disorders
Yu Feng•Ningning Jia•Peng Huang•Shaohua Hu•Sheng Yang
Molecular Psychiatry
2026
•2026/3/17
•00 p.1-13
Psychiatric disorders, including bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), share substantial genetic overlap. We conducted a cross-ancestry multivariate genome-wide association study (GWAS) integrating European and East Asian populations to uncover shared genet...
BiomarkersGeneticsPsychiatric disorders
10.1038/S41380-026-03541-3
ISSN:1359-4184
Polygenic risk of social isolation behavior and its influence on psychopathology and personality
Adam J. Socrates•Niamh Mullins•Ruben C. Gur•Raquel E. Gur•Eli Stahl等 10 人
Molecular Psychiatry
2024
•2024/5/30
•00 p.1-8
Social isolation has been linked to a range of psychiatric issues, but the behavioral component that drives it is not well understood. Here, a genome-wide associations study (GWAS) was carried out to identify genetic variants that contribute specifically to social isolation behavior (SIB) in up to 4...
Autism spectrum disordersGenetics
10.1038/S41380-024-02617-2
ISSN:1359-4184
Smoking is significantly associated with increased risk of COVID-19 and other respiratory infections
Rosoff Daniel B.•Yoo Joyce•Lohoff Falk W.
Communications Biology
2021
•2021/10/28
•Vol.4 No.1 p.1-11
Observational studies suggest smoking, cannabis use, alcohol consumption, and substance use disorders (SUDs) may impact risk for respiratory infections, including coronavirus 2019 (COVID-2019). However, causal inference is challenging due to comorbid substance use. Using summary-level European ances...
AddictionInfluenza virusRisk factors
10.1038/S42003-021-02685-Y
ISSN:2399-3642
Powering the mind: deciphering the shared genetic architecture between mitochondrial DNA copy number and major psychiatric disorders
Hui Xue•Minghuan Lei•Qiyu Zhao•Zhihui Zhang•Zuhao Sun等 15 人
Molecular Psychiatry
2026
•2026/2/3
•00 p.1-12
Mitochondrial DNA copy number (mtDNA-CN) reflects mitochondrial function and has been associated with several psychiatric disorders. However, the shared genetic architecture between mtDNA-CN and psychiatric conditions remains largely unexplored. Utilizing the largest available genome-wide associatio...
Bipolar disorderGeneticsSchizophrenia
10.1038/S41380-026-03463-0
ISSN:1359-4184
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
Brittany L. Mitchell•Michelle K. Lupton•Miguel E. Rentería•Michael A. Simpson•William R. Reay
European Journal Of Human Genetics
2026
•2026/2/4
•Vol.34 No.4 p.565-573
Observational epidemiology suggests a link between the dermatological disorder acne vulgaris and several psychiatric disorders. However, the biological mechanisms that underlie the relationship between acne and mental health are poorly characterised. Here, we employed a genetic approach using large-...
Genome-wide association studiesGenomicsPsychiatric disordersRisk factors
10.1038/S41431-026-02028-7
ISSN:1018-4813
Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain
Arjun Bhattacharya•Daniel D. Vo•Connor Jops•Minsoo Kim•Cindy Wen等 8 人
Nature Genetics
2023
•2023/11/30
•00 p.1-12
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, i...
Gene expressionPsychiatric disorders
10.1038/S41588-023-01560-2
ISSN:1061-4036
Personality traits and brain health: a large prospective cohort study
Ya-Ru Zhang•Yue-Ting Deng•Yu-Zhu Li•Rui-Qi Zhang•Kevin Kuo等 14 人
Nature Mental Health
2023
•2023/9/4
•00 p.1-14
Personality has recently emerged as a critical determinant for multiple health outcomes. However, the evidence is less established for brain health, and the underlying mechanisms remain unclear. Here, utilizing data of 298,259 participants from the UK Biobank, five personality traits, including warm...
Neurological disordersPsychiatric disorders
10.1038/S44220-023-00119-8
ISSN:2731-6076
A genome-wide analysis of the shared genetic risk architecture of complex neurological and psychiatric disorders
Olav B. Smeland•Gleda Kutrolli•Shahram Bahrami•Vera Fominykh•Nadine Parker等 21 人
Nature Neuroscience
2025
•2025/11/11
•00 p.1-12
Although neurological and psychiatric disorders have historically been considered to reflect distinct pathogenic entities, recent findings suggest shared pathophysiological mechanisms. However, the extent to which these heritable disorders share genetic influences remains unclear. Here we performed ...
Genome-wide association studiesNeurological disordersPsychiatric disorders
10.1038/S41593-025-02090-2
ISSN:1097-6256
Genetic regulation of methylation across East Asian and European populations
Ruize Liu•Tzu-Ting Chen•Yan Xia•Shu-Chin Lin•Tian Ge等 9 人
Nature Communications
2026
•2026/2/11
•Vol.17 No.1 p.26160
Methylation quantitative trait loci (mQTL) studies have predominantly focused on European populations (EUR), limiting understanding of the genetic regulation of DNA methylation in other populations. We conduct an East Asian (EAS) mQTL analysis, integrating data from three independent samples compris...
DNA methylationGenetic association study
10.1038/S41467-026-69372-6
ISSN:2041-1723
Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders
Ariadna Cilleros-Portet•Corina Lesseur•Sergi Marí•Marta Cosin-Tomas•Manuel Lozano等 25 人
Nature Communications
2025
•2025/3/14
•Vol.16 No.1 p.1-21
Increasing evidence supports the role of the placenta in neurodevelopment and in the onset of neuropsychiatric disorders. Recently, mQTL and iQTL maps have proven useful in understanding relationships between SNPs and GWAS that are not captured by eQTL. In this context, we propose that part of the g...
DevelopmentDNA methylationEpigenomicsQuantitative traitSchizophrenia
10.1038/S41467-025-57760-3
ISSN:2041-1723
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease
Uellendahl-Werth Florian•Maj Carlo•Borisov Oleg•Juzenas Simonas•Wacker Eike Matthias等 21 人
Communications Biology
2022
•2022/1/20
•Vol.5 No.1 p.1-15
Genetic correlations and an increased incidence of psychiatric disorders in inflammatory-bowel disease have been reported, but shared molecular mechanisms are unknown. We performed cross-tissue and multiple-gene conditioned transcriptome-wide association studies for 23 tissues of the gut-brain-axis ...
Gene expressionGenetic association studyInflammatory bowel diseaseSchizophrenia
10.1038/S42003-022-03031-6
ISSN:2399-3642
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Antaki Danny•Guevara James•Maihofer Adam X.•Klein Marieke•Gujral Madhusudan等 20 人
Nature Genetics
2022
•2022/6/2
•00 p.1-9
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consist...
Autism spectrum disordersBehavioural geneticsGenetics research
10.1038/S41588-022-01064-5
ISSN:1061-4036
Polygenic prediction of major depressive disorder and related traits in African ancestries UK Biobank participants
S. C. Kanjira•M. J. Adams•Y. Jiang•C. Tian•C. M. Lewis等 7 人
Molecular Psychiatry
2024
•2024/7/16
•00 p.1-7
Genome-Wide Association Studies (GWAS) over-represent European ancestries, neglecting all other ancestry groups and low-income nations. Consequently, polygenic risk scores (PRS) more accurately predict complex traits in Europeans than African Ancestries groups. Very few studies have looked at the tr...
DepressionGenetics
10.1038/S41380-024-02662-X
ISSN:1359-4184
Genome-wide gene-environment interaction study uncovers 162 vitamin D status variants using a precise ambient UVB measure
Rasha Shraim•Maria Timofeeva•Cathy Wyse•Jos van Geffen•Michiel van Weele等 16 人
Nature Communications
2025
•2025/11/28
•Vol.16 No.1 p.107740
Vitamin D status is influenced by genetic and environmental factors—primarily sun exposure. Using satellite weather data, we estimated an ambient UVB dose for each participant based on residential address and date of sampling. We conducted genome-wide tests in 338,977 UK Biobank White British partic...
EpidemiologyGenome-wide association studies
10.1038/S41467-025-65820-X
ISSN:2041-1723
Sleep chart of biological ageing clocks in middle and late life
Cliodhna Kate O’Toole•Zhiyuan Song•Filippos Anagnostakis•Zhijian Yang•Ye Ella Tian等 26 人
Nature
2026
•2026/5/13
•00 p.1-11
Optimal sleep has a vital role in promoting healthy ageing and enhancing longevity. Here we propose Sleep Chart to assess the relationship between self-reported sleep duration and 23 biological ageing clocks derived from in vivo imaging1, plasma proteomics2 and metabolomics3. First, a systemic, U-sh...
Computational modelsSystems analysis
10.1038/S41586-026-10524-5
ISSN:0028-0836
The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness
Reay William R.•Geaghan Michael P.•Cairns Murray J.
Nature Communications
2022
•2022/6/29
•Vol.13 No.1 p.1-16
Pneumonia remains one of the leading causes of death worldwide. In this study, we use genome-wide meta-analysis of lifetime pneumonia diagnosis (N = 391,044) to identify four association signals outside of the previously implicated major histocompatibility complex region. Integrative analyses and fi...
Genetic association studyInfectious diseasesPopulation genetics
10.1038/S41467-022-31473-3
ISSN:2041-1723
Child maltreatment as a transdiagnostic risk factor for the externalizing dimension: a Mendelian randomization study
Julian Konzok•Mathias Gorski•Thomas W. Winkler•Sebastian E. Baumeister•Varun Warrier等 7 人
Molecular Psychiatry
2024
•2024/8/22
•00 p.1-7
Observational studies suggest that child maltreatment increases the risk of externalizing spectrum disorders such as attention deficit hyperactivity disorder (ADHD), conduct disorder (CD), antisocial personality disorder (ASPD), and substance use disorder (SUD). Yet, only few of such associations ha...
GeneticsPsychiatric disordersPsychology
10.1038/S41380-024-02700-8
ISSN:1359-4184
Neurobiological correlates of schizophrenia-specific and highly pleiotropic genetic risk scores for neuropsychiatric disorders
Lydia M. Federmann•Lisa Sindermann•Sabrina Primus•Federico Raimondo•Konrad Oexle等 16 人
Translational Psychiatry
2025
•2025/7/5
•Vol.15 No.1 p.1-11
Neuropsychiatric disorders show shared and distinct neurobiological correlates. A cross-disorder genome-wide association study (GWAS) identified 23 highly pleiotropic single-nucleotide polymorphisms (SNPs) that were associated with at least four neuropsychiatric disorders, and 22 SNPs that were asso...
GeneticsNeurosciencePsychiatric disorders
10.1038/S41398-025-03440-1
ISSN:2158-3188
Integrating human brain proteomes with genome-wide association data implicates novel proteins in post-traumatic stress disorder
Wingo Thomas S.•Gerasimov Ekaterina S.•Liu Yue•Duong Duc M.•Vattathil Selina M.等 19 人
Molecular Psychiatry
2022
•2022/4/21
•00 p.1-10
Genome-wide association studies (GWAS) have identified several risk loci for post-traumatic stress disorder (PTSD); however, how they confer PTSD risk remains unclear. We aimed to identify genes that confer PTSD risk through their effects on brain protein abundance to provide new insights into PTSD ...
GeneticsPsychiatric disorders
10.1038/S41380-022-01544-4
ISSN:1359-4184
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes
Camiel M. van der Laan•Hill F. Ip•Marijn Schipper•Jouke-Jan Hottenga•Beate St Pourcain等 129 人
Nature Genetics
2025
•2025/9/17
•00 p.1-9
We performed a genome-wide association meta-analysis (GWAMA) of 290,134 attention-deficit/hyperactivity disorder (ADHD) symptom measures of 70,953 unique individuals from multiple raters, ages and instruments (ADHDSYMP). Next, we meta-analyzed the results with a study of ADHD diagnosis (ADHDOVERALL)...
Behavioural geneticsGenome-wide association studies
10.1038/S41588-025-02295-Y
ISSN:1061-4036
Shared genetic architecture and causal relationship between frailty and schizophrenia
Ming-Gang Deng•Kai Wang•Fang Liu•Xiuxiu Zhou•Jia-Qi Nie等 7 人
Schizophrenia
2025
•2025/2/21
•Vol.11 No.1 p.1-9
The complex relationship between frailty and schizophrenia has yet to be fully understood. This study aims to clarify their relationship by investigating their genetic links. We hypothesize a shared genetic architecture and a bidirectional causal relationship between the two conditions. Utilizing su...
Developmental biologySchizophrenia
10.1038/S41537-024-00550-5
ISSN:2754-6993
Multi-organ metabolome biological age implicates cardiometabolic conditions and mortality risk
Filippos Anagnostakis•Sarah Ko•Mehrshad Saadatinia•Jingyue Wang•Christos Davatzikos等 6 人
Nature Communications
2025
•2025/5/26
•Vol.16 No.1 p.1-14
Multi-organ biological aging clocks across different organ systems have been shown to predict human disease and mortality. Here, we extend this multi-organ framework to plasma metabolomics, developing five organ-specific metabolome-based biological age gaps (MetBAGs) using 107 plasma non-derivatized...
Disease preventionGenome-wide association studiesPredictive markers
10.1038/S41467-025-59964-Z
ISSN:2041-1723
Multi-PGS enhances polygenic prediction by combining 937 polygenic scores
Clara Albiñana•Zhihong Zhu•Andrew J. Schork•Andrés Ingason•Hugues Aschard等 19 人
Nature Communications
2023
•2023/8/5
•Vol.14 No.1 p.1-11
The predictive performance of polygenic scores (PGS) is largely dependent on the number of samples available to train the PGS. Increasing the sample size for a specific phenotype is expensive and takes time, but this sample size can be effectively increased by using genetically correlated phenotypes...
Neurodevelopmental disordersPredictive markersStatistical methods
10.1038/S41467-023-40330-W
ISSN:2041-1723
A phenome-wide association and Mendelian randomization study for suicide attempt within UK Biobank
Meiyan Huang•Xiaoling Zhang•Xiumei Chen•Xinyue Zhang•Bingxin Zhao等 10 人
Molecular Psychiatry
2025
•2025/9/2
•00 p.1-10
Uncertainties persist in the neurological and behavioral risk factors for suicide attempt (SA) due to a lack of data covering multiple phenotypes. Here, the polygenic risk scores (PRSs) for SA samples within the UK Biobank (N = 40,369) were estimated using non-overlapping Psychiatric Genomics Consor...
GeneticsNeurosciencePsychiatric disordersPsychology
10.1038/S41380-025-03214-7
ISSN:1359-4184
Bidirectional genetic overlap between autism spectrum disorder and cognitive traits
Sigrun Hope•Alexey A. Shadrin•Aihua Lin•Shahram Bahrami•Linn Rødevand等 17 人
Translational Psychiatry
2023
•2023/9/14
•Vol.13 No.1 p.1-9
Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitiv...
Autism spectrum disordersClinical geneticsGenetics
10.1038/S41398-023-02563-7
ISSN:2158-3188
A shared genetic contribution to breast cancer and schizophrenia
Donghao Lu•Jie Song•Yi Lu•Katja Fall•Xu Chen等 12 人
Nature Communications
2020
•2020/9/15
•Vol.11 No.1 p.1-10
An association between schizophrenia and subsequent breast cancer has been suggested; however the risk of schizophrenia following a breast cancer is unknown. Moreover, the driving forces of the link are largely unclear. Here, we report the phenotypic and genetic positive associations of schizophreni...
CancerEpidemiologyGenetics researchPopulation geneticsSchizophrenia
10.1038/S41467-020-18492-8
ISSN:2041-1723
Brain–heart–eye axis revealed by multi-organ imaging genetics and proteomics
Aleix Boquet-Pujadas•Filippos Anagnostakis•Michael R. Duggan•Cassandra M. Joynes•Arthur W. Toga等 9 人
Nature Biomedical Engineering
2025
•2025/9/30
•00 p.1-23
Multi-organ research investigates interconnections among multiple human organ systems, enhancing our understanding of human aging and disease mechanisms. Here we use multi-organ imaging, individual- and summary-level genetics, and proteomics data consolidated via the MULTI Consortium to delineate a ...
Genetics researchHeritable quantitative traitMachine learning
10.1038/S41551-025-01506-5
ISSN:2157-846X
An evolutionary perspective on the genetics of anorexia nervosa
Édith Breton•Tobias Kaufmann
Translational Psychiatry
2025
•2025/2/19
•Vol.15 No.1 p.1-10
Anorexia nervosa (AN) typically emerges around adolescence and predominantly affects females. Recent progress has been made in identifying biological correlates of AN, but more research is needed to pinpoint the specific mechanisms that lead to its development and maintenance. There is a known pheno...
GenomicsPsychiatric disorders
10.1038/S41398-025-03270-1
ISSN:2158-3188
Improved genetic prediction of complex traits from individual-level data or summary statistics
Qianqian Zhang•Florian Privé•Bjarni Vilhjálmsson•Doug Speed
Nature Communications
2021
•2021/7/7
•Vol.12 No.1 p.1-9
Most existing tools for constructing genetic prediction models begin with the assumption that all genetic variants contribute equally towards the phenotype. However, this represents a suboptimal model for how heritability is distributed across the genome. Therefore, we develop prediction tools that ...
Genetic association studyHeritable quantitative traitQuantitative traitStatistical methods
10.1038/S41467-021-24485-Y
ISSN:2041-1723
Blood metabolites, neurocognition and psychiatric disorders: a Mendelian randomization analysis to investigate causal pathways
Jing Guo•Ping Yang•Jia-Hao Wang•Shi-Hao Tang•Ji-Zhou Han等 13 人
Translational Psychiatry
2024
•2024/9/16
•Vol.14 No.1 p.1-13
Neurocognitive dysfunction is observationally associated with the risk of psychiatric disorders. Blood metabolites, which are readily accessible, may become highly promising biomarkers for brain disorders. However, the causal role of blood metabolites in neurocognitive function, and the biological p...
GenomicsNeurosciencePsychiatric disorders
10.1038/S41398-024-03095-4
ISSN:2158-3188
Investigating the impact of poverty on mental illness in the UK Biobank using Mendelian randomization
Mattia Marchi•Anne Alkema•Charley Xia•Chris H. L. Thio•Li-Yu Chen等 13 人
Nature Human Behaviour
2024
•2024/7/10
•00 p.1-13
It is unclear whether poverty and mental illness are causally related. Using UK Biobank and Psychiatric Genomic Consortium data, we examined evidence of causal links between poverty and nine mental illnesses (attention deficit and hyperactivity disorder (ADHD), anorexia nervosa, anxiety disorder, au...
EconomicsHuman behaviourPsychiatric disordersRisk factors
10.1038/S41562-024-01919-3
ISSN:2397-3374
Integrating cell-type-specific gene expression and genome-wide associations identifies risk genes for schizophrenia
Wenqi Lou•Xinglun Dang•Xiong-Jian Luo
Molecular Psychiatry
2026
•2026/5/9
•00 p.1-12
Integrative studies such as transcriptome-wide association studies (TWAS) and Mendelian randomization (MR) have identified multiple risk genes whose expression level is associated with schizophrenia (SCZ). However, the vast majority of integrative studies are based on quantitative trait loci (QTL) d...
GeneticsSchizophrenia
10.1038/S41380-026-03652-X
ISSN:1359-4184
The genetic landscape of neuro-related proteins in human plasma
Linda Repetto•Jiantao Chen•Zhijian Yang•Ranran Zhai•Paul R. H. J. Timmers等 52 人
Nature Human Behaviour
2024
•2024/8/29
•00 p.1-13
Understanding the genetic basis of neuro-related proteins is essential for dissecting the molecular basis of human behavioural traits and the disease aetiology of neuropsychiatric disorders. Here the SCALLOP Consortium conducted a genome-wide association meta-analysis of over 12,000 individuals for ...
BiomarkersGenetics researchGenome-wide association studiesProteomics
10.1038/S41562-024-01963-Z
ISSN:2397-3374
Placental genomics mediates genetic associations with complex health traits and disease
Bhattacharya Arjun•Freedman Anastasia N.•Avula Vennela•Harris Rebeca•Liu Weifang等 16 人
Nature Communications
2022
•2022/2/4
•Vol.13 No.1 p.1-15
As the master regulator in utero, the placenta is core to the Developmental Origins of Health and Disease (DOHaD) hypothesis but is historically understudied. To identify placental gene-trait associations (GTAs) across the life course, we perform distal mediator-enriched transcriptome-wide associati...
DevelopmentGene expressionGene regulation
10.1038/S41467-022-28365-X
ISSN:2041-1723
Transformer-based deep learning enhances discovery in migraine GWAS
Ziang Meng•Yingchao Song•Yue Jiang•Xianjin Wang•Yang Zou等 8 人
Nature Communications
2025
•2025/12/10
•Vol.16 No.1 p.110230
Migraine is a complex neurological disorder with substantial heritability, yet genome-wide association studies (GWAS) have explained only a fraction of its genetic component. We developed InsightGWAS, a Transformer-based model, to enhance genetic discovery for migraine by integrating functional anno...
Machine learningMigraine
10.1038/S41467-025-65991-7
ISSN:2041-1723
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Jack Humphrey•Erica Brophy•Roman Kosoy•Biao Zeng•Elena Coccia等 39 人
Nature Genetics
2025
•2025/3/3
•Vol.57 No.3 p.604-615
Microglia, the innate immune cells of the central nervous system, have been genetically implicated in multiple neurodegenerative diseases. Mapping the genetics of gene expression in human microglia has identified several loci associated with disease-associated genetic variants in microglia-specific ...
Functional genomicsNeurodegenerative diseasesRNA sequencingTranscriptomics
10.1038/S41588-025-02099-0
ISSN:1061-4036
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
Xiangrui Meng•Georgina Navoly•Olga Giannakopoulou•Daniel F. Levey•Dora Koller等 78 人
Nature Genetics
2024
•2024/1/4
•00 p.1-12
Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples of European ancestry. Here we report a multi-ancestry GWAS of MD, adding data from 21 cohorts with 88,316 MD cases and 902,757 controls to previously reported data. This analysis used a range of measu...
DepressionGenome-wide association studies
10.1038/S41588-023-01596-4
ISSN:1061-4036
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants
Sanders Bret•D’Andrea Daniel•Collins Mark O.•Rees Elliott•Steward Tom G. J.等 18 人
Nature Communications
2022
•2022/1/14
•Vol.13 No.1 p.1-21
Coordinated programs of gene expression drive brain development. It is unclear which transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such as schizophrenia. Here we integrate human genetics with transcriptomic data from differentiation of human embryonic stem...
Developmental neurogenesisSchizophreniaStem-cell differentiationTranscriptomics
10.1038/S41467-021-27601-0
ISSN:2041-1723
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study
Eleni Friligkou•Solveig Løkhammer•Brenda Cabrera-Mendoza•Jie Shen•Jun He等 15 人
Nature Genetics
2024
•2024/9/18
•00 p.1-10
We leveraged information from more than 1.2 million participants, including 97,383 cases, to investigate the genetics of anxiety disorders across five continental groups. Through ancestry-specific and cross-ancestry genome-wide association studies, we identified 51 anxiety-associated loci, 39 of whi...
Genome-wide association studiesPsychiatric disorders
10.1038/S41588-024-01908-2
ISSN:1061-4036
Polygenic contribution to the relationship of loneliness and social isolation with schizophrenia
Andreu-Bernabeu Álvaro•Díaz-Caneja Covadonga M.•Costas Javier•De Hoyos Lucía•Stella Carol等 20 人
Nature Communications
2022
•2022/1/10
•Vol.13 No.1 p.1-11
Previous research suggests an association of loneliness and social isolation (LNL-ISO) with schizophrenia. Here, we demonstrate a LNL-ISO polygenic score contribution to schizophrenia risk in an independent case-control sample (N = 3,488). We then subset schizophrenia predisposing variation based on...
Behavioural geneticsComparative genomicsGenome-wide association studiesSchizophrenia
10.1038/S41467-021-27598-6
ISSN:2041-1723
Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration
Joana A. Revez•Tian Lin•Zhen Qiao•Angli Xue•Yan Holtz等 21 人
Nature Communications
2020
•2020/4/2
•Vol.11 No.1 p.1-12
Vitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 Europeans we identify 143 independent loci in 112 1-Mb regions, providing insights into the physiology of vitamin D and i...
Calcium and vitamin DGenome-wide association studiesPsychiatric disordersRisk factors
10.1038/S41467-020-15421-7
ISSN:2041-1723
Psychiatric genome-wide association study enrichment shows promise for future psychopharmaceutical discoveries
Alexander S. Hatoum•Aaron J. Gorelik•Lauren Blaydon•Spencer B. Huggett•Tingying Chi等 10 人
Communications Medicine
2025
•2025/5/16
•Vol.5 No.1 p.1-8
Innovation in psychiatric therapeutics has stagnated on known mechanisms. Psychiatric genome-wide association studies (GWAS) have identified hundreds of genome-wide significant (GWS) loci that have rapidly advanced our understanding of disease etiology. However, whether these results can be leverage...
Genetic association studyPsychiatric disorders
10.1038/S43856-025-00877-9
ISSN:2730-664X
Dimensional and transdiagnostic phenotypes in psychiatric genome-wide association studies
Monika A. Waszczuk•Katherine G. Jonas•Marina Bornovalova•Gerome Breen•Cynthia M. Bulik等 14 人
Molecular Psychiatry
2023
•2023/7/4
•00 p.1-11
Genome-wide association studies (GWAS) provide biological insights into disease onset and progression and have potential to produce clinically useful biomarkers. A growing body of GWAS focuses on quantitative and transdiagnostic phenotypic targets, such as symptom severity or biological markers, to ...
GeneticsPredictive markersPsychiatric disordersPsychology
10.1038/S41380-023-02142-8
ISSN:1359-4184
Polygenic score analyses on antidepressant response in late-life depression, results from the IRL-GRey study
Samar S. M. Elsheikh•Victoria S. Marshe•Xiaoyu Men•Farhana Islam•Vanessa F. Gonçalves等 12 人
The Pharmacogenomics Journal
2024
•2024/11/22
•Vol.24 No.6 p.1-7
Late-life depression (LLD) is often accompanied by medical comorbidities such as psychiatric disorders and cardiovascular diseases, posing challenges to antidepressant treatment. Recent studies highlighted significant associations between treatment-resistant depression (TRD) and polygenic risk score...
Genetic association studyPharmacogenetics
10.1038/S41397-024-00351-0
ISSN:1470-269X
Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases
Kai Yuan•Ryan J. Longchamps•Antonio F. Pardiñas•Mingrui Yu•Tzu-Ting Chen等 21 人
Nature Genetics
2024
•2024/8/26
•00 p.1-10
Genome-wide association studies (GWAS) of human complex traits or diseases often implicate genetic loci that span hundreds or thousands of genetic variants, many of which have similar statistical significance. While statistical fine-mapping in individuals of European ancestry has made important disc...
BioinformaticsGenetics researchGenome-wide association studiesPopulation genetics
10.1038/S41588-024-01870-Z
ISSN:1061-4036
Biological underpinnings and genetic predisposition to schizophrenia within microrna-137 regulatory pathways across brain development
Carol Stella•Lucía De Hoyos•Alberto Mora•Covadonga M. Díaz-Caneja•Álvaro Andreu-Bernabeu等 20 人
Translational Psychiatry
2026
•2026/2/11
•Vol.16 No.1 p.910
Previous studies have evaluated the role of the microRNA-137 (miRNA137) regulatory pathway in schizophrenia by using in silico or in vitro predicted target genes. These approaches do not capture the dynamic spatiotemporal nature of the miRNA137 regulatory pathway or tend to overestimate direct miRNA...
Personalized medicineSchizophrenia
10.1038/S41398-026-03859-0
ISSN:2158-3188
Cross-ancestry pleiotropic analysis of imaging-derived phenotypes enhances risk stratification of depression
Yu Feng•Xiaonan Guo•Peng Huang•Ningning Jia•Shaohua Hu等 6 人
Molecular Psychiatry
2026
•2026/7/1
•00 p.1-15
Depression arises from dynamic interactions among genetic predisposition, brain alterations, and environmental stressors. Despite genome-wide association studies (GWAS) identifying risk loci, the mechanisms translating genetic variation into brain changes remain elusive. Imaging-derived phenotypes (...
DepressionGenetics
10.1038/S41380-026-03730-0
ISSN:1359-4184
Identification of risk variants and cross-disorder pleiotropy through multi-ancestry genome-wide analysis of alcohol use disorder
Romain Icick•Alexey Shadrin•Børge Holen•Naz Karadag•Nadine Parker等 20 人
Nature Mental Health
2025
•2025/1/8
•00 p.1-13
Alcohol use disorder (AUD) is highly heritable and burdensome worldwide. Genome-wide association studies can provide new evidence regarding the etiology of AUD. We report a multi-ancestry genome-wide association study focusing on a narrow AUD phenotype, using novel statistical tools in a total sampl...
AddictionGenome-wide association studiesRisk factors
10.1038/S44220-024-00353-8
ISSN:2731-6076
Genomics yields biological and phenotypic insights into bipolar disorder
Kevin S. O’Connell•Maria Koromina•Tracey van der Veen•Toni Boltz•Friederike S. David等 304 人
Nature
2025
•2025/1/22
•00 p.1-12
Bipolar disorder is a leading contributor to the global burden of disease1. Despite high heritability (60–80%), the majority of the underlying genetic determinants remain unknown2. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases w...
Bipolar disorderGenetics of the nervous systemGenetics researchGenome-wide association studies
10.1038/S41586-024-08468-9
ISSN:0028-0836
Multivariate genomic architecture of cortical thickness and surface area at multiple levels of analysis
Grotzinger Andrew D.•Mallard Travis T.•Liu Zhaowen•Seidlitz Jakob•Ge Tian等 6 人
Nature Communications
2023
•2023/2/20
•Vol.14 No.1 p.1-13
Recent work in imaging genetics suggests high levels of genetic overlap within cortical regions for cortical thickness (CT) and surface area (SA). We model this multivariate system of genetic relationships by applying Genomic Structural Equation Modeling (Genomic SEM) and parsimoniously define five ...
Behavioural geneticsFunctional genomicsGenetic variationGenomics
10.1038/S41467-023-36605-X
ISSN:2041-1723
Pharmacologic and genetic evidence converge on mechanisms of psychotic illness
Brian Fennessy•Liam Cotter•Nicole W. Simons•Lora E. Liharska•Girish N. Nadkarni等 7 人
Translational Psychiatry
2025
•2025/7/23
•Vol.15 No.1 p.1-13
Idiopathic and substance-induced forms of psychotic illness afflict millions of people worldwide, and it is largely unknown whether these two forms emerge through the same molecular mechanisms. Though genetic studies have implicated thousands of genes in idiopathic psychotic illnesses (e.g., schizop...
Molecular neurosciencePersonalized medicinePharmacogenomicsPredictive markers
10.1038/S41398-025-03456-7
ISSN:2158-3188
Multi-organ AI endophenotypes chart the heterogeneity of brain, eye and heart pan-disease
Aleix Boquet-Pujadas•Filippos Anagnostakis•Zhijian Yang•Ye Ella Tian•Michael R. Duggan等 14 人
Nature Mental Health
2026
•2026/1/6
•Vol.4 No.2 p.203-230
Disease heterogeneity and commonality pose critical challenges to precision medicine, as traditional approaches frequently focus on single disease entities and overlook shared mechanisms across conditions. Here, inspired by pan-cancer and multi-organ research, we introduce the concept of ‘pan-diseas...
Computational modelsGenetics research
10.1038/S44220-025-00560-X
ISSN:2731-6076
The impact of cannabis use on erectile dysfunction and sex hormones: a Mendelian randomization analysis
Youqian Zhang•Yue Su•Zitian Tang•Lin Li
International Journal Of Impotence Research
2024
•2024/6/4
•00 p.1-8
Previous study has highlighted an association between cannabis use (CU) and an increased risk of erectile dysfunction (ED), potentially due to indirect effects on sex hormonal balance. However, the evidence remains controversial, and the causal relationship is unclear. This study utilized genome-wid...
Risk factorsSexual dysfunction
10.1038/S41443-024-00925-3
ISSN:0955-9930
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa
Zheng-An Lu•Alexander Ploner•Andreas Birgegård•Mikael Landén•Cynthia M. Bulik等 6 人
Molecular Psychiatry
2025
•2025/9/23
•00 p.1-10
Anorexia nervosa (AN) has extensive genetic correlations with other psychiatric disorders, and genetic risk for different psychiatric disorders was associated with distinct clinical courses in AN. Uncovering associations between transdiagnostic psychiatric genetic liability and AN outcomes can facil...
GeneticsPsychiatric disorders
10.1038/S41380-025-03264-X
ISSN:1359-4184
Molecular regulatory mechanisms of schizophrenia-associated functional non-coding variants
Shan-Shan Dai•Xinglun Dang•Daohua Gong•Danyang Li•Changgai Mu等 7 人
Molecular Psychiatry
2026
•2026/4/2
•00 p.1-13
Genome-wide association studies (GWAS) have identified over 300 risk loci for schizophrenia (SCZ). However, given the vast majority of risk variants identified from GWAS are localized in non-coding regions, identification of functional risk variants from the risk loci and elucidating their molecular...
GeneticsSchizophrenia
10.1038/S41380-026-03566-8
ISSN:1359-4184
Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology
Lam Max•Chen Chia-Yen•Hill W. David•Xia Charley•Tian Ruoyu等 14 人
Nature Communications
2022
•2022/11/11
•Vol.13 No.1 p.1-22
Cognitive deficits are known to be related to most forms of psychopathology. Here, we perform local genetic correlation analysis as a means of identifying independent segments of the genome that show biologically interpretable pleiotropic associations between cognitive dimensions and psychopathology...
Cognitive neuroscienceGenetic association study
10.1038/S41467-022-34418-Y
ISSN:2041-1723
The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities
Ana Luiza Arruda•Ozvan Bocher•Henry J. Taylor•Davis Cammann•Satoshi Yoshiji等 19 人
Nature Communications
2025
•2025/10/10
•Vol.16 No.1 p.1-14
Type 2 diabetes is associated with a range of non-cardiovascular non-oncologic comorbidities. To move beyond associations and evaluate causal effects between type 2 diabetes genetic predisposition and 21 comorbidities, we apply Mendelian randomization analysis using genome-wide association studies a...
EpidemiologyGenetics researchType 2 diabetes
10.1038/S41467-025-64927-5
ISSN:2041-1723
Computation and resource efficient genome-wide association analysis for large-scale imaging studies
Zhiwen Jiang•Jason Stein•Tengfei Li•Ethan Fang•Yun Li等 7 人
Nature Communications
2026
•2026/2/28
•Vol.17 No.1 p.33130
Imaging genetics links genetic variations to brain structures and functions, but the computational challenges posed by high-dimensional imaging and genetic data are significant. In voxel-level genome-wide association studies, we introduce a Representation learning-based Voxel-level Genetic Analysis ...
Genome-wide association studiesImage processingLearning algorithms
10.1038/S41467-026-69816-Z
ISSN:2041-1723
The genetic relationships between brain structure and schizophrenia
Eva-Maria Stauffer•Richard A. I. Bethlehem•Lena Dorfschmidt•Hyejung Won•Varun Warrier等 6 人
Nature Communications
2023
•2023/11/28
•Vol.14 No.1 p.1-15
Genetic risks for schizophrenia are theoretically mediated by genetic effects on brain structure but it has been unclear which genes are associated with both schizophrenia and cortical phenotypes. We accessed genome-wide association studies (GWAS) of schizophrenia (N = 69,369 cases; 236,642 controls...
Development of the nervous systemGenetics of the nervous systemSchizophrenia
10.1038/S41467-023-43567-7
ISSN:2041-1723
Improving polygenic prediction in ancestrally diverse populations
Ruan Yunfeng•Lin Yen-Feng•Feng Yen-Chen Anne•Chen Chia-Yen•Lam Max等 12 人
Nature Genetics
2022
•2022/5/5
•00 p.1-8
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As existing genome-wide association studies (GWAS) have been conducted predominantly in individuals of European descent, the limited transferability of PRS reduces their clinical value in non-European populations, a...
EpidemiologyGenome-wide association studiesPersonalized medicineSchizophreniaSoftware
10.1038/S41588-022-01054-7
ISSN:1061-4036
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Caroline M. Nievergelt•Adam X. Maihofer•Elizabeth G. Atkinson•Chia-Yen Chen•Karmel W. Choi等 235 人
Nature Genetics
2024
•2024/4/18
•00 p.1-17
Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association st...
Genome-wide association studiesPsychiatric disorders
10.1038/S41588-024-01707-9
ISSN:1061-4036
Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions
Rodrigo R. R. Duarte•Oliver Pain•Matthew L. Bendall•Miguel de Mulder Rougvie•Jez L. Marston等 14 人
Nature Communications
2024
•2024/5/22
•Vol.15 No.1 p.1-13
Human endogenous retroviruses (HERVs) are repetitive elements previously implicated in major psychiatric conditions, but their role in aetiology remains unclear. Here, we perform specialised transcriptome-wide association studies that consider HERV expression quantified to precise genomic locations,...
Functional genomicsMedical geneticsPsychiatric disorders
10.1038/S41467-024-48153-Z
ISSN:2041-1723
Distinguishing clinical and genetic risk factors for suicidal ideation and behavior in a diverse hospital population
Sarah M. C. Colbert•Lauren Lepow•Brian Fennessy•Nakao Iwata•Masashi Ikeda等 12 人
Translational Psychiatry
2025
•2025/2/20
•Vol.15 No.1 p.1-9
Suicidal ideation (SI) and behavior (SB) are major public health concerns, but risk factors for their development and progression are poorly understood. We used ICD codes and a natural language processing algorithm to identify individuals in a hospital biobank with SI-only, SB, and controls without ...
GenomicsPsychiatric disorders
10.1038/S41398-025-03287-6
ISSN:2158-3188
Prenatal cannabis exposure, the brain, and psychopathology during early adolescence
David A. A. Baranger•Alex P. Miller•Aaron J. Gorelik•Sarah E. Paul•Alexander S. Hatoum等 12 人
Nature Mental Health
2024
•2024/7/4
•Vol.2 No.8 p.975-986
Prenatal cannabis exposure (PCE) is associated with mental health problems in early adolescence, but the possible neurobiological mechanisms remain unknown. In a large longitudinal sample of adolescents (ages 9–12 years, n = 9,322–10,186), we find that PCE is associated with localized differences in...
ADHDNeurosciencePsychologyRisk factors
10.1038/S44220-024-00281-7
ISSN:2731-6076
Cortical thinning and hippocampal expansion as brain signatures of attention deficit hyperactivity disorder symptom trajectories
Wenjie Hou•Daqian Zhu•Barbara J. Sahakian•Samuele Cortese•Christelle Langley等 34 人
Nature Mental Health
2026
•2026/2/10
•Vol.4 No.2 p.263-278
Clinical heterogeneity in the symptom trajectories of attention deficit hyperactivity disorder (ADHD) is well documented, but their neurodevelopmental mechanisms remain unclear. We used a longitudinal cohort of adolescents (ABCD; n = 7,436) to show that persistent, remitting and emergent ADHD sympto...
ADHDPredictive markersPsychology
10.1038/S44220-025-00578-1
ISSN:2731-6076
A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank
Rocheleau Ghislain•Forrest Iain S.•Duffy Áine•Bafna Shantanu•Dobbyn Amanda等 9 人
Communications Biology
2022
•2022/8/20
•Vol.5 No.1 p.1-9
Phenome-wide association studies identified numerous loci associated with traits and diseases. To help interpret these associations, we constructed a phenome-wide network map of colocalized genes and phenotypes. We generated colocalized signals using the Genotype-Tissue Expression data and genome-wi...
Gene expressionMedical genomics
10.1038/S42003-022-03820-Z
ISSN:2399-3642
Genetic analyses point to alterations in immune-related pathways underpinning the association between psychiatric disorders and COVID-19
Anna Monistrol-Mula•Santiago Diaz-Torres•Mireia Felez-Nobrega•Josep Maria Haro•Sarah E. Medland等 6 人
Molecular Psychiatry
2024
•2024/7/3
•00 p.1-8
Current literature suggests that people with psychiatric disorders have a higher risk of COVID-19 infection and a worse prognosis of the disease. We aimed to study the genetic contribution to these associations across seven psychiatric disorders as well as a general psychopathology factor (P-factor)...
GeneticsPsychiatric disorders
10.1038/S41380-024-02643-0
ISSN:1359-4184
Exploring the genetic overlap between twelve psychiatric disorders
Romero Cato•Werme Josefin•Jansen Philip R.•Gelernter Joel•Stein Murray B.等 11 人
Nature Genetics
2022
•2022/12/5
•Vol.54 No.12 p.1795-1802
The widespread comorbidity among psychiatric disorders demonstrated in epidemiological studies1–5 is mirrored by non-zero, positive genetic correlations from large-scale genetic studies6–10. To identify shared biological processes underpinning this observed phenotypic and genetic covariance and enha...
Genetics researchGenome-wide association studiesPsychiatric disorders
10.1038/S41588-022-01245-2
ISSN:1061-4036
The causes and consequences of Alzheimer’s disease: phenome-wide evidence from Mendelian randomization
Korologou-Linden Roxanna•Bhatta Laxmi•Brumpton Ben M.•Howe Laura D.•Millard Louise A. C.等 12 人
Nature Communications
2022
•2022/8/11
•Vol.13 No.1 p.1-14
Alzheimer’s disease (AD) has no proven causal and modifiable risk factors, or effective interventions. We report a phenome-wide association study (PheWAS) of genetic liability for AD in 334,968 participants of the UK Biobank study, stratified by age. We also examined the effects of AD genetic liabil...
Cognitive ageingDiseases of the nervous systemGenetic variation
10.1038/S41467-022-32183-6
ISSN:2041-1723
MRI-based multi-organ clocks for healthy aging and disease assessment
Huizi Cao•Zhiyuan Song•Michael R. Duggan•Guray Erus•Dhivya Srinivasan等 15 人
Nature Medicine
2025
•2025/10/16
•00 p.1-11
Biological aging clocks across organ systems and tissues have advanced understanding of human aging and disease. In this study, we expand this framework to develop seven magnetic resonance imaging-based multi-organ biological age gaps (MRIBAGs), including the brain, heart, liver, adipose tissue, spl...
Data miningGenetics researchPredictive markers
10.1038/S41591-025-03999-8
ISSN:1078-8956
Genome-wide meta-analysis of quantitatively measured generalized anxiety symptoms in individuals of European ancestry
Megan Skelton•Brittany L. Mitchell•Elham Assary•Danyang Li•Genevieve Morneau-Vaillancourt等 53 人
Nature Human Behaviour
2026
•2026/6/9
•00 p.1-15
Anxiety is heritable and exists on a continuum, with symptoms ranging from adaptive threat response to clinical disorder. Here we performed a genome-wide association meta-analysis of generalized anxiety symptom severity in 693,869 individuals of European ancestry from 14 cohorts. We identified 80 in...
AnxietyQuantitative trait
10.1038/S41562-026-02476-7
ISSN:2397-3374
Genome-Wide Association Study of Obsessive-Compulsive Symptoms including 33,943 individuals from the general population
Nora I. Strom•Christie L. Burton•Conrad Iyegbe•Talisa Silzer•Lilit Antonyan等 24 人
Molecular Psychiatry
2024
•2024/3/28
•00 p.1-10
While 1–2% of individuals meet the criteria for a clinical diagnosis of obsessive-compulsive disorder (OCD), many more (~13–38%) experience subclinical obsessive-compulsive symptoms (OCS) during their life. To characterize the genetic underpinnings of OCS and its genetic relationship to OCD, we cond...
GeneticsPsychiatric disordersPsychology
10.1038/S41380-024-02489-6
ISSN:1359-4184
The overlapping genetic architecture of psychiatric disorders and cortical brain structure
Zhiqiang Sha•Varun Warrier•Richard A. I. Bethlehem•Laura M. Schultz•Alison Merikangas等 14 人
Nature Mental Health
2025
•2025/8/11
•00 p.1-17
Both psychiatric vulnerability and cortical structure are shaped by the cumulative effect of common genetic variants across the genome. However, the shared genetic underpinnings between psychiatric disorders and brain structural phenotypes, such as thickness and surface area of the cerebral cortex, ...
Genome-wide association studiesMagnetic resonance imagingPsychiatric disorders
10.1038/S44220-025-00475-7
ISSN:2731-6076
Immunological drivers and potential novel drug targets for major psychiatric, neurodevelopmental, and neurodegenerative conditions
Christina Dardani•Jamie W. Robinson•Hannah J. Jones•Dheeraj Rai•Evie Stergiakouli等 14 人
Molecular Psychiatry
2025
•2025/4/25
•00 p.1-10
Immune dysfunction is implicated in the aetiology of psychiatric, neurodevelopmental, and neurodegenerative conditions, but the issue of causality remains unclear impeding attempts to develop new interventions. Using genomic data on protein and gene expression across blood and brain, we assessed evi...
BiomarkersPsychiatric disorders
10.1038/S41380-025-03032-X
ISSN:1359-4184
Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling
Nora I. Strom•Brad Verhulst•Silviu-Alin Bacanu•Rosa Cheesman•Kirstin L. Purves等 134 人
Nature Genetics
2026
•2026/2/3
•Vol.58 No.2 p.275-288
The major anxiety disorders (ANX; including generalized anxiety disorder, panic disorder and phobias) are highly prevalent, often onset early and cause substantial global disability. Although distinct in their clinical presentations, they probably represent differential expressions of a dysregulated...
Genetic association studyPsychiatric disorders
10.1038/S41588-025-02485-8
ISSN:1061-4036