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

Associations of Polygenic Risk for Depression, Traditional Chinese Medicine Constitution, and Depression: A Population‐Based Study in Taiwan 抑郁症多基因风险、中医体质与抑郁症的关联：基于台湾人口的研究

IF 2.8 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-09-11 DOI: 10.1002/ajmg.b.33007

Yu‐Cheng Hsu, Mei‐Hsin Su, Chia‐Yen Chen, Yen‐Feng Lin, Shi‐Heng Wang

{"title":"Associations of Polygenic Risk for Depression, Traditional Chinese Medicine Constitution, and Depression: A Population‐Based Study in Taiwan","authors":"Yu‐Cheng Hsu, Mei‐Hsin Su, Chia‐Yen Chen, Yen‐Feng Lin, Shi‐Heng Wang","doi":"10.1002/ajmg.b.33007","DOIUrl":"https://doi.org/10.1002/ajmg.b.33007","url":null,"abstract":"To comprehensively investigate the risk factors associated with depression, traditional Chinese medicine constitution (TCMC) has been found to be related to depression. However, the underlying mechanism remains unclear. This study examined the association between the concept of unbalanced TCMCs and major depressive disorder (MDD), investigated the overlapping polygenic risks between unbalanced TCMC and MDD, and performed a mediation test to establish potential pathways. In total, 11,030 individuals were recruited from the Taiwan Biobank, and the polygenic risk score (PRS) for MDD for each participant was calculated using the data from the Psychiatric Genomics Consortium. Unbalanced TCMC were classified as yang‐deficiency, yin‐deficiency, and stasis. The MDD PRS was associated with yang‐deficiency odds ratio [OR] per standard deviation increase in standardized (PRS = 1.07, p = 0.0080), yin‐deficiency (OR = 1.07, p = 0.0030), and stasis constitution (OR = 1.06, p = 0.0331). Yang‐deficiency (OR = 2.07, p < 0.0001) and stasis constitutions (OR = 1.65, p = 0.0015) were associated with an increased risk of MDD. A higher number of unbalanced constitutions was associated with MDD (p < 0.0001). The effect of MDD PRS on MDD was partly mediated by yang‐deficiency (10.21%) and stasis (8.41%) constitutions. This study provides evidence for the shared polygenic risk mechanism underlying depression and TCMC and the potential mediating role of TCMC in the polygenic liability for MDD.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142217419","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}

引用次数: 0

The genetic and environmental etiology of novel frequency-driven regional parcellations of abnormal white matter. 新频率驱动的区域性异常白质小片的遗传和环境病因。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-08-16 DOI: 10.1002/ajmg.b.33004

Shu-Ju Lin, Nathan A Gillespie, Randy Notestine, Anthony C Gamst, Anna M Chen, Linda K McEvoy, Matthew S Panizzon, Jeremy A Elman, Stephen J Glatt, Donald J Hagler, Michael C Neale, Carol E Franz, William S Kremen, Christine Fennema-Notestine

{"title":"The genetic and environmental etiology of novel frequency-driven regional parcellations of abnormal white matter.","authors":"Shu-Ju Lin, Nathan A Gillespie, Randy Notestine, Anthony C Gamst, Anna M Chen, Linda K McEvoy, Matthew S Panizzon, Jeremy A Elman, Stephen J Glatt, Donald J Hagler, Michael C Neale, Carol E Franz, William S Kremen, Christine Fennema-Notestine","doi":"10.1002/ajmg.b.33004","DOIUrl":"https://doi.org/10.1002/ajmg.b.33004","url":null,"abstract":"The prevalence of white matter disease increases with age and is associated with cerebrovascular disease, cognitive decline, and risk for dementia. MRI measures of abnormal signal in the white matter (AWM) provide estimates of damage, however, regional patterns of AWM may be differentially influenced by genetic or environmental factors. With our data-driven regional parcellation approach, we created a probability distribution atlas using Vietnam Era Twin Study of Aging (VETSA) data (n = 475, mean age 67.6 years) and applied a watershed algorithm to define separate regional parcellations. We report biometrical twin modeling for five anatomically distinct regions: (1) Posterior, (2) Superior frontal and parietal, (3) Anterior and inferior frontal with deep areas, (4) Occipital, and (5) Anterior periventricular. We tested competing multivariate hypotheses to identify unique influences and to explain sources of covariance among the parcellations. Family aggregation could be entirely explained by additive genetic influences, with additive genetic variance (heritability) ranging from 0.69 to 0.79. Most genetic correlations between parcellations ranged from moderate to high (rg = 0.57-0.85), although two were small (rg = 0.35-0.39), consistent with varying degrees of unique genetic influences. This proof-of-principle investigation demonstrated the value of our novel, data-driven parcellations, with identifiable genetic and environmental differences, for future exploration.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987287","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}

引用次数: 0

A twin analysis to estimate genetic and environmental factors contributing to variation in weighted gene co-expression network module eigengenes. 通过孪生子分析估算导致加权基因共表达网络模块eigengenes变异的遗传和环境因素。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-08-09 DOI: 10.1002/ajmg.b.33003

Nathan A Gillespie, Tyler R Bell, Gentry C Hearn, Jonathan L Hess, Ming T Tsuang, Michael J Lyons, Carol E Franz, William S Kremen, Stephen J Glatt

{"title":"A twin analysis to estimate genetic and environmental factors contributing to variation in weighted gene co-expression network module eigengenes.","authors":"Nathan A Gillespie, Tyler R Bell, Gentry C Hearn, Jonathan L Hess, Ming T Tsuang, Michael J Lyons, Carol E Franz, William S Kremen, Stephen J Glatt","doi":"10.1002/ajmg.b.33003","DOIUrl":"10.1002/ajmg.b.33003","url":null,"abstract":"Multivariate network-based analytic methods such as weighted gene co-expression network analysis are frequently applied to human and animal gene-expression data to estimate the first principal component of a module, or module eigengene (ME). MEs are interpreted as multivariate summaries of correlated gene-expression patterns and network connectivity across genes within a module. As such, they have the potential to elucidate the mechanisms by which molecular genomic variation contributes to individual differences in complex traits. Although increasingly used to test for associations between modules and complex traits, the genetic and environmental etiology of MEs has not been empirically established. It is unclear if, and to what degree, individual differences in blood-derived MEs reflect random variation versus familial aggregation arising from heritable or shared environmental influences. We used biometrical genetic analyses to estimate the contribution of genetic and environmental influences on MEs derived from blood lymphocytes collected on a sample of N = 661 older male twins from the Vietnam Era Twin Study of Aging (VETSA) whose mean age at assessment was 67.7 years (SD = 2.6 years, range = 62-74 years). Of the 26 detected MEs, 14 (56%) had statistically significant additive genetic variation with an average heritability of 44% (SD = 0.08, range = 35%-64%). Despite the relatively small sample size, this demonstration of significant family aggregation including estimates of heritability in 14 of the 26 MEs suggests that blood-based MEs are reliable and merit further exploration in terms of their associations with complex traits and diseases.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141911301","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}

引用次数: 0

Exploring the genetic architecture of brain structure and ADHD using polygenic neuroimaging-derived scores. 利用多基因神经成像衍生评分探索大脑结构和多动症的遗传结构。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-07-17 DOI: 10.1002/ajmg.b.32987

Tim van der Es, Sourena Soheili-Nezhad, Nina Roth Mota, Barbara Franke, Jan Buitelaar, Emma Sprooten

{"title":"Exploring the genetic architecture of brain structure and ADHD using polygenic neuroimaging-derived scores.","authors":"Tim van der Es, Sourena Soheili-Nezhad, Nina Roth Mota, Barbara Franke, Jan Buitelaar, Emma Sprooten","doi":"10.1002/ajmg.b.32987","DOIUrl":"https://doi.org/10.1002/ajmg.b.32987","url":null,"abstract":"Genome-wide association studies (GWAS) have provided valuable insights into the genetic basis of neuropsychiatric disorders and highlighted their complexity. Careful consideration of the polygenicity and complex genetic architecture could aid in the understanding of the underlying brain mechanisms. We introduce an innovative approach to polygenic scoring, utilizing imaging-derived phenotypes (IDPs) to predict a clinical phenotype. We leveraged IDP GWAS data from the UK Biobank, to create polygenic imaging-derived scores (PIDSs). As a proof-of-concept, we assessed genetic variations in brain structure between individuals with ADHD and unaffected controls across three NeuroIMAGE waves (n = 954). Out of the 94 PIDS, 72 exhibited significant associations with their corresponding IDPs in an independent sample. Notably, several global measures, including cerebellum white matter, cerebellum cortex, and cerebral white matter, displayed substantial variance explained for their respective IDPs, ranging from 3% to 5.7%. Conversely, the associations between each IDP and the clinical ADHD phenotype were relatively weak. These findings highlight the growing power of GWAS in structural neuroimaging traits, enabling the construction of polygenic scores that accurately reflect the underlying polygenic architecture. However, to establish robust connections between PIDS and behavioral or clinical traits such as ADHD, larger samples are needed. Our novel approach to polygenic risk scoring offers a valuable tool for researchers in the field of psychiatric genetics.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141625720","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}

引用次数: 0

Independent inheritance of cognition and bipolar disorder in a family sample. 家族样本中认知和躁郁症的独立遗传。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-07-16 DOI: 10.1002/ajmg.b.33001

Alexander D'Amico, Heejong Sung, Alejandro Arbona-Lampaya, Ally Freifeld, Katie Hosey, Joshua Garcia, Ley Lacbawan, Emily Besançon, Layla Kassem, Nirmala Akula, Emma E M Knowles, Dwight Dickinson, Francis J McMahon

{"title":"Independent inheritance of cognition and bipolar disorder in a family sample.","authors":"Alexander D'Amico, Heejong Sung, Alejandro Arbona-Lampaya, Ally Freifeld, Katie Hosey, Joshua Garcia, Ley Lacbawan, Emily Besançon, Layla Kassem, Nirmala Akula, Emma E M Knowles, Dwight Dickinson, Francis J McMahon","doi":"10.1002/ajmg.b.33001","DOIUrl":"https://doi.org/10.1002/ajmg.b.33001","url":null,"abstract":"Cognitive deficits in people with bipolar disorder (BD) may be the result of the illness or its treatment, but they could also reflect genetic risk factors shared between BD and cognition. We investigated this question using empirical genetic relationships within a sample of patients with BD and their unaffected relatives. Participants with bipolar I, II, or schizoaffective disorder (\"narrow\" BD, n = 69), related mood disorders (\"broad\" BD, n = 135), and their clinically unaffected relatives (n = 227) completed five cognitive tests. General cognitive function (g) was quantified via principal components analysis (PCA). Heritability and genetic correlations were estimated with SOLAR-Eclipse. Participants with \"narrow\" or \"broad\" diagnoses showed deficits in g, although affect recognition was unimpaired. Cognitive performance was significantly heritable (h2 = 0.322 for g, p < 0.005). Coheritability between psychopathology and g was small (0.0184 for narrow and 0.0327 for broad) and healthy relatives of those with BD were cognitively unimpaired. In this family sample, cognitive deficits were present in participants with BD but were not explained by substantial overlaps in genetic determinants of mood and cognition. These findings support the view that cognitive deficits in BD are largely the result of the illness or its treatment.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619013","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}

引用次数: 0

Polygene by environment interactions predicting depressive outcomes. 多基因与环境的相互作用可预测抑郁的结果。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-07-16 DOI: 10.1002/ajmg.b.33000

Alessandra R Grillo

{"title":"Polygene by environment interactions predicting depressive outcomes.","authors":"Alessandra R Grillo","doi":"10.1002/ajmg.b.33000","DOIUrl":"https://doi.org/10.1002/ajmg.b.33000","url":null,"abstract":"Depression is a major public health problem with a continued need to uncover its etiology. Current models of depression contend that gene-by-environment (G × E) interactions influence depression risk, and further, that depression is polygenic. Thus, recent models have emphasized two polygenic approaches: a hypothesis-driven multilocus genetic profile score (MGPS; \"MGPS × E\") and a polygenic risk score (PRS; \"PRS × E\") derived from genome-wide association studies (GWAS). This review for the first time synthesizes current knowledge on polygene by environment \"P × E\" interaction research predicting primarily depression-related outcomes, and in brief, neurobiological outcomes. The \"environment\" of focus in this project is stressful life events. It further discusses findings in the context of differential susceptibility and diathesis-stress theories-two major theories guiding G × E work. This synthesis indicates that, within the MGPS literature, polygenic scores based on the serotonin system, the HPA axis, or across multiple systems, interact with environmental stress exposure to predict outcomes at multiple levels of analyses and most consistently align with differential susceptibility theory. Depressive outcomes are the most studied, but neuroendocrine, and neuroimaging findings are observed as well. By contrast, vast methodological differences between GWAS-based PRS studies contribute to mixed findings that yield inconclusive results.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619014","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}

引用次数: 0

Meet the Editors. An interview with Marta Ribasés, Vall d'Hebron Research Institute (VHIR), Barcelona Spain. 与编辑见面。采访西班牙巴塞罗那 Vall d'Hebron 研究所（VHIR）的 Marta Ribasés。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-07-05 DOI: 10.1002/ajmg.b.33002

Paul Trevorrow, Marta Ribasés

引用次数: 0

Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study. 家族性腺瘤性息肉病青少年的自闭症特征：一项荷兰-加拿大病例对照研究。

IF 1.6 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-07-05 DOI: 10.1002/ajmg.b.32999

Polina Perlman Danieli, Ny Hoang, Thanuja Selvanayagam, Alvin Yang, Elemi Breetvelt, Merit Tabbers, Christine Cohen, Arthur S Aelvoet, Brett Trost, Thomas Ward, Kara Semotiuk, Carol Durno, Melyssa Aronson, Zane Cohen, Evelien Dekker, Jacob Vorstman

{"title":"Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study.","authors":"Polina Perlman Danieli, Ny Hoang, Thanuja Selvanayagam, Alvin Yang, Elemi Breetvelt, Merit Tabbers, Christine Cohen, Arthur S Aelvoet, Brett Trost, Thomas Ward, Kara Semotiuk, Carol Durno, Melyssa Aronson, Zane Cohen, Evelien Dekker, Jacob Vorstman","doi":"10.1002/ajmg.b.32999","DOIUrl":"https://doi.org/10.1002/ajmg.b.32999","url":null,"abstract":"This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli (APC) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain pathogenic APC variants result in behavioral-cognitive challenges. We compared 66 FAP patients (cases) and 34 unaffected siblings (controls) to explore associations between APC variants and behavioral and cognitive challenges. Our findings indicate that FAP patients exhibited higher Social Responsiveness Scale (SRS) scores, suggesting a greater prevalence of autistic traits when compared to unaffected siblings (mean 53.8 vs. 47.4, Wilcoxon p = 0.018). The distribution of SRS scores in cases suggested a bimodal pattern, potentially linked to the location of the APC variant, with scores increasing from the 5' to 3' end of the gene (Pearson's r = 0.33, p = 0.022). While we observed a trend toward lower educational attainment in cases, this difference was not statistically significant. This study is the first to explore the connection between APC variant location and neurodevelopmental traits in FAP, expanding our understanding of the genotype-phenotype correlation. Our results emphasize the importance of clinical assessment for autistic traits in FAP patients, shedding light on the potential role of APC gene variants in these behavioral and cognitive challenges.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141533357","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}

引用次数: 0

Interview with Stephen Glatt. Editor‐in‐Chief, American Journal of Medical Genetics: Neuropsychiatric Genetics 采访斯蒂芬-格拉特（Stephen Glatt）。美国医学遗传学杂志》主编：神经精神遗传学

IF 2.8 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-06-22 DOI: 10.1002/ajmg.b.32998

Paul Trevorrow, Stephen J. Glatt

引用次数: 0

Network‐based artificial intelligence approaches for advancing personalized psychiatry 基于网络的人工智能方法促进个性化精神病学的发展

IF 2.8 3区医学

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-06-21 DOI: 10.1002/ajmg.b.32997

Sivanesan Rajan, Emanuel Schwarz

{"title":"Network‐based artificial intelligence approaches for advancing personalized psychiatry","authors":"Sivanesan Rajan, Emanuel Schwarz","doi":"10.1002/ajmg.b.32997","DOIUrl":"https://doi.org/10.1002/ajmg.b.32997","url":null,"abstract":"Psychiatric disorders have a complex biological underpinning likely involving an interplay of genetic and environmental risk contributions. Substantial efforts are being made to use artificial intelligence approaches to integrate features within and across data types to increase our etiological understanding and advance personalized psychiatry. Network science offers a conceptual framework for exploring the often complex relationships across different levels of biological organization, from cellular mechanistic to brain‐functional and phenotypic networks. Utilizing such network information effectively as part of artificial intelligence approaches is a promising route toward a more in‐depth understanding of illness biology, the deciphering of patient heterogeneity, and the identification of signatures that may be sufficiently predictive to be clinically useful. Here, we present examples of how network information has been used as part of artificial intelligence within psychiatry and beyond and outline future perspectives on how personalized psychiatry approaches may profit from a closer integration of psychiatric research, artificial intelligence development, and network science.","PeriodicalId":7673,"journal":{"name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141552629","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}

引用次数: 0