American Journal of Medical Genetics Part B: Neuropsychiatric Genetics最新文献

{"title":"Providing Personalized Genetic Feedback for Psychiatric and Substance Use Disorders: An Urgent Need for Research","authors":"Danielle M. Dick, Jehannine (J9) Austin","doi":"10.1002/ajmg.b.33053","DOIUrl":"10.1002/ajmg.b.33053","url":null,"abstract":"<p>The past several years have been witness to rapid progress in gene identification for psychiatric and substance use disorders (SUDs). Hundreds of loci have been identified (Andreassen et al. <span>2023</span>) through large-scale genome-wide association studies (GWASs), based on hundreds of thousands or millions of individuals. Results from these GWAS can be summed to create polygenic scores (PGSs) that now account for up to 10% of the variance, rivaling or surpassing the effect sizes observed for many socioenvironmental variables that are currently used for prevention and early intervention (Karlsson Linnér et al. <span>2021</span>).</p><p>In parallel, there has been exponential growth in the public's interest in genetic testing, with an estimated 100 million individuals having participated in direct-to-consumer (DTC) genetic testing (Henry <span>2021</span>). Psychiatric disorders are among the conditions for which genetic information is most frequently sought (Folkersen et al. <span>2020</span>). More than 80% of people report they want access to their personalized genetic risk scores for psychiatric and substance use outcomes (Driver et al. <span>2020</span>; Folkersen et al. <span>2020</span>). Relatives of people with psychiatric illness worry about, and are interested in understanding/mitigating their own risk for developing these conditions (Austin et al. <span>2006</span>; DeLisi and Bertisch <span>2006</span>; Erickson et al. <span>2014</span>; Lyus <span>2007</span>; Meiser et al. <span>2008</span>, <span>2005</span>; Quaid et al. <span>2001</span>; Quinn et al. <span>2014</span>; Wilhelm et al. <span>2009</span>). Over the last 2 years, 23andMe has introduced PGSs for depression, anxiety, and ADHD as part of their add-on subscription services (23andMe <span>2023</span>). Before PGS were available through DTC companies, third-party websites allowed individuals to upload raw genetic data obtained from these companies to compute PGS; user data from one of the most popular sites (impute.me, now commercialized) indicated that psychiatric and substance use outcomes comprised half of the Top 12 most requested PGS out of more than 1500 medical outcomes. Whether one holds the position that people should have access to their genetic information whenever they wish, or one believes that access to genetic information should be closely monitored and limited, the reality is that regardless of scientists' varied perspectives, people want access to their genetic information for psychiatric and SUDs, <i>and they are already getting it</i>. This trend is only likely to accelerate as the global genetic testing market is expected to more than double to nearly 45 billion USD within the decade (The Brainy Insights <span>2023</span>). FDA guidance surrounding genetic testing is complex and evolving, and at present, most genetic tests are unregulated (National Human Genome Research Institute <span>2024</span>). Further, many genetic tests are marketed as p","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"201 1","pages":"3-8"},"PeriodicalIF":1.5,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144877847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of the Parental Patterns of Morbidity and Comorbidity in the Cross-Generational Transmission of Risk for Major Depression and Alcohol Use Disorder","authors":"Kenneth S. Kendler,&nbsp;Linda Abrahamsson,&nbsp;Jan Sundquist,&nbsp;Kristina Sundquist","doi":"10.1002/ajmg.b.33052","DOIUrl":"10.1002/ajmg.b.33052","url":null,"abstract":"<p>To further understand the inter-relationship of the familial transmission of major depression (MD) and alcohol use disorder (AUD), we examine, via a multivariable Cox proportional hazards model, risks for AUD and MD in 1,244,516 individuals born in Sweden from 1970 to 1990 to intact mother–father pairs as a function of parental diagnoses of MD and/or AUD. Across the nine possible mating types, we see both direct transmission (MD → MD, AUD → AUD) and also, less strongly, indirect transmission: MD → AUD and AUD → MD. Risks in offspring accumulate with multiple affected parents, which reveals the impact of interactive effects in risk prediction. Interestingly, the risk for comorbid AUD/MD in offspring is higher when one parent has MD and the other AUD rather than when one parent has both disorders. Modest sex effects are seen, with maternal-offspring transmission sometimes significantly stronger than paternal-offspring transmission. In most comparisons, parental-offspring transmission was modestly stronger for same-sex versus opposite-sex parent-offspring pairs. These results suggest that MD/AUD comorbidity in Sweden is due, at least in part, to correlated familial liability transmitted by direct and indirect paths across generations. We could reject the hypothesis that an AUD/MD syndrome was specifically transmitted from parents to offspring.</p>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"201 1","pages":"35-51"},"PeriodicalIF":1.5,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The rs11150601 Intron Variant of SETD1A Is Associated With Female Schizophrenia in the UK Biobank Cohort","authors":"Steven Lehrer,&nbsp;Peter H. Rheinstein","doi":"10.1002/ajmg.b.33054","DOIUrl":"10.1002/ajmg.b.33054","url":null,"abstract":"<div>\u0000 \u0000 <p>Schizophrenia is a complex psychiatric disorder with an estimated heritability of 80%. SETD1A, a gene encoding a histone methyltransferase critical for transcriptional regulation, has been identified as a significant risk factor for schizophrenia. Loss-of-function mutations in SETD1A confer up to a 35-fold increased risk, implicating its role in neurodevelopment and synaptic plasticity. Using data from the UK Biobank cohort (468,998 participants), we investigated the association of SETD1A variants with schizophrenia, obesity, and hypertension. Schizophrenia cases were identified using ICD-10 codes, while obesity and hypertension were assessed using specific data fields. Genome-wide association analysis was performed using PLINK, and statistical analyses utilized SPSS v26. Logistic regression assessed the impact of the SETD1A intron variant (rs11150601) alongside age, obesity, and hypertension on schizophrenia risk. Among 1063 individuals diagnosed with schizophrenia, obesity (<i>p</i> &lt; 0.001) and hypertension (<i>p</i> &lt; 0.001) were significantly more prevalent. The rs11150601 GG genotype was associated with an increased risk of schizophrenia in women (OR 1.6, <i>p</i> &lt; 0.001) but not in men. Logistic regression revealed that obesity, hypertension, and age were independent risk factors for schizophrenia in women. SETD1A genotype exerted a significant sex-specific effect, highlighting its potential role in the biological mechanisms underlying schizophrenia. Our findings emphasize the role of SETD1A in the genetic architecture of schizophrenia and its comorbidities, particularly in women. The sex-specific effects of SETD1A variants underscore the importance of incorporating biological sex into studies of psychiatric genetics. Further research is warranted to elucidate the mechanisms by which SETD1A influences neurodevelopment and identify therapeutic strategies targeting its epigenetic functions.</p>\u0000 </div>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"201 1","pages":"30-34"},"PeriodicalIF":1.5,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Relationship Between Gut Microbiota and Non-Suicidal Self-Injury: A Two-Sample Mendelian Randomization Study","authors":"Jin Gao,&nbsp;Liangke Pan,&nbsp;Xinqi Wang,&nbsp;Jingjing Xu,&nbsp;Wangwang Xu,&nbsp;Yang Zhang,&nbsp;Zhenglun Pan","doi":"10.1002/ajmg.b.33050","DOIUrl":"10.1002/ajmg.b.33050","url":null,"abstract":"<div>\u0000 \u0000 <p>This study aims to determine the causal relationship between gut microbiota (GM) and Non-Suicidal Self-Injury (NSSI) using a two-sample Mendelian Randomization (MR) approach. By identifying Single Nucleotide Polymorphisms (SNPs) linked to both GM and NSSI, we explore bidirectional causal effects to uncover potential therapeutic pathways. A bidirectional MR analysis was conducted using GWAS data. SNPs associated with GM were used as instrumental variables (IVs) to assess the causal impact of GM on NSSI and vice versa. Forward MR analysis applied Inverse Variance Weighted (IVW) and MR-robust adjusted profile score (MR-RAPS) methods to address weak IVs. Sensitivity analyses, including MR-Egger regression, weighted median, and weighted mode methods, were employed to ensure robustness and minimize bias. Reverse MR analysis evaluated the influence of NSSI on GM. Additional tests, such as heterogeneity and leave-one-out analyses, were used for result validation. All analyses were performed using R software (v4.3.2) and the “TwoSampleMR” package. Our analysis identified significant associations between GM and NSSI. In the forward MR analysis, 38 GM taxa at the genus level were linked to NSSI, including Dorea (OR = 1.462, <i>p</i> = 0.023) and Escherichia Shigella (OR = 0.731, <i>p</i> = 0.035), which impacted hospital treatment needs. Notable taxa like Lachnospiraceae UCG001 (OR = 0.755, <i>p</i> = 0.012) and Paraprevotella (OR = 1.229, <i>p</i> = 0.022) were associated with self-injurious behavior. Reverse MR identified 10 significant associations, including Prevotella9 (<i>p</i> = 0.001) linked to inflammation and Faecalibacterium (<i>p</i> = 0.014) with protective effects. Sensitivity analyses confirmed the robustness of findings, with no pleiotropy or bias detected. This study establishes a complex relationship between GM and NSSI, revealing both risk-enhancing and protective associations. These findings suggest that GM may influence NSSI behaviors and could serve as a target for future therapeutic interventions. Further research is needed to explore underlying mechanisms and validate these results.</p>\u0000 </div>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"241-250"},"PeriodicalIF":1.5,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of Brain-Derived Neurotrophic Factor Polymorphism and Stimulation Parameters on the Response to Repetitive Transcranial Magnetic Stimulation: A Systematic Review","authors":"Yi-Ling Kuo,&nbsp;Gracy Lin,&nbsp;Stephen J. Glatt","doi":"10.1002/ajmg.b.33051","DOIUrl":"10.1002/ajmg.b.33051","url":null,"abstract":"<div>\u0000 \u0000 <p>Repetitive transcranial magnetic stimulation (rTMS) has been a common technique used to stimulate neuromodulatory changes, which can induce therapeutic benefits. However, the effects are variable, possibly resulting from personal factors such as genetic contribution and heterogeneous methodologies. The brain-derived neurotrophic factor (BDNF) plays a crucial role in rTMS-dependent neuroplasticity, but it is unclear how BDNF genotypes interact with the stimulation parameters of rTMS and contribute to the variable responses to neuromodulation. This systematic review aimed to (1) examine how BDNF polymorphisms are related to the after-effects of rTMS in humans and (2) investigate the association between BDNF polymorphism and rTMS stimulation parameters as contributing factors to the response to rTMS. Of the 36 studies included in this systematic review, 35 studies had at least one domain of high or unclear risk of bias; 53% of the studies in healthy individuals showed differences in TMS-derived or behavioral measures between Val/Val homozygotes and Met allele carriers. In stroke, neuromodulatory effects on corticospinal excitability and motor deficits were more evident in Val/Val homozygotes than Met allele carriers. Similarly, in depression, Val/Val homozygotes demonstrated more symptom improvement compared with Met allele carriers following rTMS. We discuss methodological considerations and provide suggestions for future research.</p>\u0000 </div>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"201 1","pages":"9-29"},"PeriodicalIF":1.5,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program","authors":"Dee Adedipe,&nbsp;Audrey Thurm,&nbsp;Lisa Joseph,&nbsp;Maria T. Acosta,&nbsp;Ellen F. Macnamara,&nbsp;Colby Chlebowski,&nbsp;Riley Kessler,&nbsp;Precilla D'Souza,&nbsp;Lynne Wolfe,&nbsp;Jean M. Johnson,&nbsp;Tyra Estwick,&nbsp;John Yang,&nbsp;Paul R. Lee,&nbsp;Jennifer Murphy,&nbsp;Camilo Toro,&nbsp;Thomas Markello,&nbsp;Dennis Carter,&nbsp;David R. Adams,&nbsp;William A. Gahl,&nbsp;Cynthia J. Tifft","doi":"10.1002/ajmg.b.33047","DOIUrl":"10.1002/ajmg.b.33047","url":null,"abstract":"<p>The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions. Patients accepted to the program receive a careful review of their medical records and a tailored inpatient evaluation at the NIH Clinical Center in Bethesda, MD. For the pediatric population, systematic neurodevelopmental phenotypic evaluations are included. Here we report neurodevelopmental phenotyping data on pediatric participants enrolled in the NIH UDP from 2009 to 2019, with genetic findings reported through 2025. Results for 219 pediatric participants included a high rate of intellectual disability, with 27% of the sample in the severe-to-profound range. The phenotype often included multisystemic involvement, with motor impairments as well as vision and hearing concerns. For the 46% for whom a genetic diagnosis was made, there was greater impairment, including more severe intellectual disability and more frequent motor impairments as well as minimal verbal status. This study documented that severe neurodevelopmental impairments are frequently present in the unique pediatric undiagnosed patients enrolled in NIH UDP; the diagnosis of a genetic condition was associated with greater impairment.</p>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"230-240"},"PeriodicalIF":1.5,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mental Health Diagnoses Associated With Sex Chromosome Anomalies","authors":"Adaiah Soibi-Harry,&nbsp;Oumaima Kaabi,&nbsp;Doris Fadoju,&nbsp;Melissa D. Gardner,&nbsp;Darios Getahun,&nbsp;Timothy L. Lash,&nbsp;Peter A. Lee,&nbsp;Joshua May,&nbsp;Courtney E. McCracken,&nbsp;Behzad Sorouri Khorashad,&nbsp;Nancy Sokkary,&nbsp;Suma Vupputuri,&nbsp;Rami Yacoub,&nbsp;David E. Sandberg,&nbsp;Michael Goodman","doi":"10.1002/ajmg.b.33046","DOIUrl":"10.1002/ajmg.b.33046","url":null,"abstract":"<div>\u0000 \u0000 <p>Sex chromosome aneuploidy (SCA) is a group of conditions characterized by an atypical number of X and/or Y chromosomes, which are associated with various mental health diagnoses (MHD). Individuals with Klinefelter syndrome (KS), Turner syndrome (TS), or Turner mosaicism (TM) were identified using an electronic health record screening algorithm, followed by a review of karyotype data and clinical notes. Each patient with KS was matched with 10 non-SCA males, and each TS or TM participant was matched with 10 non-SCA females. Poisson regression models accounting for matched design and controlling for enrollment duration were used to calculate prevalence ratios (PR) and 95% confidence intervals (CI) for various MHD categories. When 282 KS patients were compared with male referents, the top three differences in prevalence were observed for feeding and eating disorders (PR = 4.2; 95% CI: 1.6, 11.1), disruptive, impulsive-control, and conduct disorders (PR = 3.4; 95% CI: 2.3, 5.0), and suicidal ideation (PR = 3.5; 95% CI 2.0, 5.9). Among 263 TS/TM patients, the corresponding PR estimates relative to female referents were the highest for neurodevelopmental disorders (3.6; 95% CI: 2.7, 4.8) and disruptive, impulsive-control, and conduct disorders (2.0; 95% CI: 1.2, 3.6). When the data were stratified according to age at the time of MHD linkages, the PR estimates varied across the groups, but the 95% CIs largely overlapped. People with SCA carry a greater burden of MHD than comparable persons without SCA. Management of mental health comorbidities is a relatively neglected healthcare priority in this group of patients.</p>\u0000 </div>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"210-220"},"PeriodicalIF":1.5,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"m6A Methylation-Induced Autophagy Impairment by TFEB Regulation in SOD1-G93A ALS Cell Model","authors":"Di An,&nbsp;Yuhao Wu,&nbsp;Jingzhe Han,&nbsp;Pingping Fang,&nbsp;Yi Bu,&nbsp;Guang Ji,&nbsp;Jinliang Deng,&nbsp;Xueqin Song","doi":"10.1002/ajmg.b.33048","DOIUrl":"10.1002/ajmg.b.33048","url":null,"abstract":"<p>We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT-qPCR, Western blot, MeRIP, RIP, and immunofluorescence. Elevated m6A methylation and reduced TFEB expression were observed in hSOD1-G93A models. METTL3 overexpression suppressed TFEB expression, leading to impaired mitophagy, while METTL3 knockdown alleviated these effects. MeRIP assays confirmed increased m6A modifications on TFEB mRNA, and RIP assays demonstrated direct interaction between METTL3 and TFEB mRNA. Notably, TFEB overexpression rescued mitophagy dysfunction, whereas TFEB knockdown exacerbated the impairment. METTL3-mediated m6A methylation inhibits mitophagy by downregulating TFEB expression, revealing the m6A-TFEB pathway as a promising therapeutic target for ALS.</p>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"221-229"},"PeriodicalIF":1.5,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature","authors":"Maria Francesca Astorino,&nbsp;Marco Calabrò,&nbsp;Carmenrita Infortuna,&nbsp;Maria Rosaria Anna Muscatello,&nbsp;Silvana Briuglia,&nbsp;Nicola Cicero,&nbsp;Chiara Fabbri,&nbsp;Alessandro Serretti,&nbsp;Concetta Crisafulli","doi":"10.1002/ajmg.b.33045","DOIUrl":"10.1002/ajmg.b.33045","url":null,"abstract":"<p>Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental perspectives, with a particular emphasis on the role of trace elements (TrEs). TrEs such as zinc, magnesium, copper, iron, and selenium are essential micronutrients that influence several central nervous system functions, including enzymatic activity, neurotransmitter synthesis, and synaptic plasticity. Both deficiencies and excesses of these elements have been linked to psychiatric disorders. This study explores the associations between TrEs, psychiatric symptoms, and biological pathways due to the Research Domain Criteria (RDoC) framework. We discuss clinical evidence and genetic studies to evaluate possible correlations between TrEs and key RDoC endophenotypes. By elucidating these connections, this review focuses on the potential and current limitations of TrEs in mental health.</p>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"168-189"},"PeriodicalIF":1.5,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Equitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research","authors":"Brenda Cabrera-Mendoza,&nbsp;Margit Burmeister,&nbsp;Marcella Rietschel,&nbsp;David Crepaz-Keay,&nbsp;Yatan Pal Singh Balhara,&nbsp;Soraya Seedat,&nbsp;Victoria Marshe,&nbsp;Sian Hemmings,&nbsp;Roseann Peterson,&nbsp;Ruchika Kaushik,&nbsp;Biju Viswanath,&nbsp;Reeteka Sud,&nbsp;Partha Haldar,&nbsp;Mandy Johnstone,&nbsp;Anish V. Cherian,&nbsp;Todd Lencz,&nbsp;Janneke Zinkstok,&nbsp;Renato Polimanti,&nbsp;Daniel J. Mueller,&nbsp;Gabriel Lázaro-Muñoz,&nbsp;Chunyu Liu,&nbsp;Nurnberger John I,&nbsp;Humberto Nicolini,&nbsp;Consuelo Walss-Bass,&nbsp;Marcos Santoro,&nbsp;Sujata Satapathy,&nbsp;Chittaranjan Behera,&nbsp;Anna R. Docherty","doi":"10.1002/ajmg.b.33042","DOIUrl":"10.1002/ajmg.b.33042","url":null,"abstract":"<p>International collaborations between high-income countries (HICs) and low- and middle-income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant challenges in equity and fairness. Specifically, research partnerships often suffer from imbalances, such as “helicopter” research approaches or the exploitation and marginalization of LMIC researchers. Here, we present a consensus report by members of the International Society for Psychiatric Genetics, outlining key considerations and strategies for planning, implementing, and disseminating equitable collaborative research. Throughout the collaboration process, we identified both challenges and opportunities and provided recommendations to maximize the benefits of these partnerships. Among our considerations, we emphasize that Equitable Collaboration must begin with comprehensive stakeholder engagement, fostering a participatory environment that includes local communities, governments, and institutions from both HICs and LMICs. Among the potential challenges we identify are differences in ethical research and data-sharing frameworks across countries, inequalities in research resources and infrastructure, and reduced visibility of research conducted in LMICs. These factors can significantly impact research outcomes and their applicability. In conclusion, while global collaboration in psychiatric genetics presents complex challenges, it also offers substantial opportunities for impactful research and improved global mental health.</p>","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":"198 8","pages":"154-167"},"PeriodicalIF":1.5,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.b.33042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}