Psychiatric Genetics最新文献

{"title":"Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.","authors":"Marie-Noëlle Babinet,&nbsp;Nadine Thomas,&nbsp;Linda Pons,&nbsp;Caroline Schluth-Bolard,&nbsp;Damien Sanlaville,&nbsp;Caroline Demily","doi":"10.1097/YPG.0000000000000351","DOIUrl":"10.1097/YPG.0000000000000351","url":null,"abstract":"<p><p>Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multiple congenital disorders. These rearrangements are involved in syndromes that share some phenotypic similarities. To date, 22q11.2 triplication remains very rare, with few cases described in the literature. Here, we report for the first time the clinical, neurocognitive, social cognition and psychiatric properties of a 6-year-old child with 22q11.2 triplication, in comparison with a patient with 22q11.2 duplication and 16 cases of patients with 22q11.2 deletion. Chromosomal region 22q11.2 seems to be a critical locus for sociability and attentional skills and rearrangements could be interpreted as a predisposing factor for the development of psychotic symptoms (22q11.2 deletion), a protective factor (22q11.2 duplication) or a tendency factor for hypersociability (22q11.2 triplication).</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 5","pages":"202-205"},"PeriodicalIF":0.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10316505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis.","authors":"Diana Shamsutdinova, Olesya Ajnakina, Angus Roberts, Daniel Stahl","doi":"10.1097/YPG.0000000000000349","DOIUrl":"10.1097/YPG.0000000000000349","url":null,"abstract":"<p><strong>Objectives: </strong>An association between type 2 diabetes (T2DM) and schizophrenia has long been observed, and recent research revealed presence of shared genetic factors. However, epidemiological evidence was inconsistent, some reported insignificant contribution of genetic factors to T2DM-schizophrenia comorbidity. Prior works studied people with schizophrenia, particularly, antipsychotic-naive patients, or those during the first psychotic experience to limit schizophrenia-related environmental factors. In contrast, we controlled such factors by utilizing a general population sample of individuals undiagnosed with schizophrenia. We hypothesized that if schizophrenia genetics impact T2DM development and such impact is not fully mediated by schizophrenia-related environment, people with high polygenic schizophrenia risk would exhibit elevated T2DM incidence.</p><p><strong>Methods: </strong>Using a population-representative sample of adults aged ≥50 from English Longitudinal Study of Ageing ( n  = 5968, 493 T2DM cases, average follow-up 8.7 years), we investigated if schizophrenia polygenic risk score (PGS-SZ) is associated with T2DM onset. A proportional hazards model with interval censoring was adjusted for age and sex (Model 1), and age, sex, BMI, hypertension, cardiovascular diseases, exercise, smoking, depressive symptoms and T2DM polygenic risk score (Model 2). According to the power calculations, hazard rates > 1.14 per standard deviation in PGS-SZ could be detected.</p><p><strong>Results: </strong>We did not observe a significant association between PGS-SZ and T2DM incidence (hazard ratio 1.04; 95% CI 0.93-1.15; and 1.01, 95% CI 0.94-1.09).</p><p><strong>Conclusion: </strong>Our results suggest low contribution of the intrinsic biological mechanisms driven by the polygenic risk of schizophrenia on future T2DM onset. Further research is needed.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 5","pages":"191-201"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10256948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.","authors":"Xiaoyun Guo, Shibin Wang, Xiandong Lin, Zuxing Wang, Yikai Dou, Yuping Cao, Yong Zhang, Xinqun Luo, Longli Kang, Ting Yu, Zhiren Wang, Yunlong Tan, Shenshen Gao, Hangxiao Zheng, Fen Zhao, Huifen Wang, Kesheng Wang, Fan Xie, Wenzhong Chen, Xingguang Luo","doi":"10.1097/YPG.0000000000000344","DOIUrl":"10.1097/YPG.0000000000000344","url":null,"abstract":"<p><strong>Objectives: </strong>Numerous genome-wide association studies have identified CACNA1C as one of the top risk genes for schizophrenia. As a necessary post-genome-wide association study (GWAS) follow-up, here, we focused on this risk gene, carefully investigated its novel risk variants for schizophrenia, and explored their potential functions.</p><p><strong>Methods: </strong>We analyzed four independent samples (including three European and one African-American) comprising 5648 cases and 6936 healthy subjects to identify replicable single nucleotide polymorphism-schizophrenia associations. The potential regulatory effects of schizophrenia-risk alleles on CACNA1C mRNA expression in 16 brain regions (n = 348), gray matter volumes (GMVs) of five subcortical structures (n = 34 431), and surface areas and thickness of 34 cortical regions (n = 36 936) were also examined.</p><p><strong>Results: </strong>A novel 17-variant block across introns 36-45 of CACNA1C was significantly associated with schizophrenia in the same effect direction across at least two independent samples (1.8 × 10-4 ≤ P ≤ 0.049). Most risk variants within this block showed significant associations with CACNA1C mRNA expression (1.6 × 10-3 ≤ P ≤ 0.050), GMVs of subcortical structures (0.016 ≤ P ≤ 0.048), cortical surface areas (0.010 ≤ P ≤ 0.050), and thickness (0.004 ≤ P ≤ 0.050) in multiple brain regions.</p><p><strong>Conclusion: </strong>We have identified a novel and functional risk variant block at CACNA1C for schizophrenia, providing further evidence for the important role of this gene in the pathogenesis of schizophrenia.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 5","pages":"182-190"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10268511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"White matter volume and myelin oligodendrocyte glycoprotein (MOG) microsatellites in pediatric obsessive-compulsive disorder.","authors":"Gwyneth Zai, Clement C Zai, Paul D Arnold, Margaret A Richter, Gregory L Hanna, David Rosenberg, James L Kennedy","doi":"10.1097/YPG.0000000000000343","DOIUrl":"10.1097/YPG.0000000000000343","url":null,"abstract":"<p><p>The myelin oligodendrocyte glycoprotein ( MOG ) gene plays an important role in myelination and has been implicated in the genetics of white matter changes in obsessive-compulsive disorder (OCD). We examined the association between variations of two microsatellite markers across MOG for association and total white matter volume as measured using volumetric MRI in 37 pediatric OCD patients 7-18 years. We compared white matter volumes between microsatellite allele groups using analysis of covariance with covariates of age, gender, and total intracranial volume. After controlling for multiple comparisons, a significant relationship was detected between MOG (TAAA)n and increased total white matter volume ( P  = 0.018-0.028). Although preliminary, our findings provide further support for the involvement of MOG in OCD.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"160-163"},"PeriodicalIF":1.5,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10218893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The therapygenetics of anxiety disorders.","authors":"Srishti Vashishtha,&nbsp;Stefan Kloiber,&nbsp;Gwyneth Zai","doi":"10.1097/YPG.0000000000000342","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000342","url":null,"abstract":"<p><p>Treatment of anxiety disorders primarily includes pharmacological treatment and psychotherapy, yet a substantial portion of patients do not experience sufficient clinical response. Given the significant impact of anxiety disorders on well-being and quality of life, it is pertinent to strive to ensure available treatments are of paramount efficacy. This review aimed to identify genetic variants and genes that may moderate the outcome of psychotherapy in patients with anxiety disorders, termed 'therapygenetics.' A comprehensive search of the current literature following relevant guidelines was conducted. Eighteen records were included in the review. Seven studies reported significant associations between genetic variants and response to psychotherapy. The most investigated polymorphisms were the serotonin transporter-linked polymorphic region (5-HTTLPR), nerve growth factor rs6330, catechol-O-methyltransferase Val158Met, and brain-derived neurotrophic factor Val166Met. However, current findings are inconsistent and thus do not support the use of genetic variants for the prediction of psychotherapy response in anxiety disorders.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"123-133"},"PeriodicalIF":0.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9914834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Depression and sarcopenia: a Mendelian randomization analysis.","authors":"Yehong Lu,&nbsp;Ruijie Zhang,&nbsp;Qiang Zheng","doi":"10.1097/YPG.0000000000000346","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000346","url":null,"abstract":"<p><strong>Background: </strong>The association between depression and sarcopenia has been reported in observational studies but the causality of depression on sarcopenia remained unknown. We aimed to assess the causal effect between major depressive disorder (MDD) and sarcopenia using the two-sample Mendelian randomization (MR) method.</p><p><strong>Methods: </strong>A set of genetics instruments were used for analysis, derived from publicly available genetic summary data. Clinically, appendicular lean mass (ALM) and low hand grip strength (LHGS) have been widely used for the diagnosis of sarcopenia. Inverse-variance weighted method, weighted median method, MR-Egger, MR Pleiotropy RESidual Sum and Outlier test were used for the bidirectional MR analyses.</p><p><strong>Results: </strong>No evidence for an effect of MDD on sarcopenia risk was found. MDD was not associated with ALM [effect = -0.17 (-0.60 to 0.27), P = 0.449] and LHGS [effect = 0.24 (-0.46 to 0.93), P = 0.506]. Sarcopenia was not associated with MDD [ALM: odds ratio (OR) = 0.999 (0.996-1.001), P = 0.374; LHGS: OR = 0.999 (0.996-1.002), P = 0.556].</p><p><strong>Conclusion: </strong>MDD and Sarcopenia might mutually have no causal effect on each other.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"145-151"},"PeriodicalIF":0.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10220310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.","authors":"Berna Aygün,&nbsp;Nur Seda Gülcü Üstün","doi":"10.1097/YPG.0000000000000348","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000348","url":null,"abstract":"<p><p>Malpuech-Michels-Mingarelli-Carnevale (3MC) syndrome, is a rare genetic condition resulting from the combination of four autosomal recessive syndromes which were classified as separate syndromes earlier. 3MC syndrome may be accompanied by a range of other conditions including cleft lips and palate, blepharophimosis, blepharoptosis, downward-sloping palpebral fissures, hypertelorism, facial dysmorphism such as high arched eyebrows, growth retardation, hearing impairment, genital anomalies, elongated coccyx, caudal appendage, radioulnar synostosis and skeletal conditions such as craniosynostosis. The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3MC syndrome have been reported in the literature. Here we present a case of 11-year-old girl with 3 MC syndrome in comorbidity with attention deficit hyperactivity disorder, oppositional defiant disorder, and major depressive disorder.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"164-B2"},"PeriodicalIF":0.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10239542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress.","authors":"Erik Fransen,&nbsp;Laura L M Cassiers,&nbsp;Viktoriia Chubar,&nbsp;Annick Gilles,&nbsp;Vincent Van Rompaey,&nbsp;Ilse van der Werf,&nbsp;Paul Van de Heyning,&nbsp;Stephan Claes,&nbsp;Bernard Sabbe,&nbsp;Frank R Kooy,&nbsp;Filip Van Den Eede","doi":"10.1097/YPG.0000000000000339","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000339","url":null,"abstract":"<p><strong>Objective: </strong>Tinnitus can be regarded as a chronic stressor, leading to dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis. There is important comorbidity with anxiety, particularly panic, potentially associated with differences in HPA axis functioning and methylation patterns of HPA axis-related genes. This study examines DNA methylation of the glucocorticoid receptor gene ( NR3C1 ) exon 1F in adults with chronic subjective tinnitus and the possible differential effect of panic.</p><p><strong>Methods: </strong>In a well characterized tinnitus sample ( n  = 22, half of which had co-occurring panic attacks), and unaffected controls ( n  = 31) methylation patterns of the CpG sites were determined using pyrosequencing and compared between groups through linear mixed models. Gene expression was determined using quantitative PCR on mRNA.</p><p><strong>Results: </strong>Comparing the combined tinnitus groups to the control group, no DNA methylation differences were observed; however, the tinnitus group with panic attacks showed consistently higher mean methylation values across all CpGs compared to the tinnitus-only and the control group ( P  = 0.03 following Tukey correction), which became even more pronounced when accounting for childhood trauma ( P  = 0.012). Moreover, a significant positive correlation was found between methylation of the CpG7 site and the Beck Anxiety Inventory total score ( P  = 0.001) in the total population. NR3C1 -1F expression was not significantly different between the three groups.</p><p><strong>Conclusion: </strong>Panic is associated with higher DNA methylation of the NR3C1 exon 1F in adults with chronic subjective tinnitus, consistent with the reduced negative glucocorticoid feedback and HPA axis hyperfunction observed in individuals with panic disorder.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"134-144"},"PeriodicalIF":0.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c6/49/pg-33-134.PMC10325559.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10192698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank.","authors":"Huimei Huang,&nbsp;Li Liu,&nbsp;Fenling Feng,&nbsp;Hongli Sun,&nbsp;Fei Li,&nbsp;Haibin Wu,&nbsp;Chujun Liang,&nbsp;Xiaomeng Chu,&nbsp;Yujie Ning,&nbsp;Feng Zhang","doi":"10.1097/YPG.0000000000000347","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000347","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the associations between maternal smoking (MS) and education score in adult offspring.</p><p><strong>Methods: </strong>To better understand this link, we performed a two-stage genome-wide by environment interaction studies (GWEIS) of MS and offspring education score in UK Biobank cohort. Specifically, 276 996 subjects from England were enrolled in the discovery study, while 24 355 subjects from Scotland and 14 526 subjects from Wales were enrolled in the replication study. GWEIS were conducted by PLINK 2.0 with MS used as an environmental risk factor.</p><p><strong>Results: </strong>Significant GWEIS associations ( P  < 0.0001) between MS and offspring education score in both the discovery cohort and two replicate cohorts (Scotland population and Wales population) were identified. GWEIS identified 2 independent significant single nucleotide polymorphism-MS interaction, with one variant located in the chromosomal 16 (rs72768988, Position: 22,768,798, P  = 1.22 × 10 -8 , β = 6.7662) and the other one located in 2q32.3 region (2 : 196424612_GT_G, Position: 196 424 612, 3.60 × 10 -9 , β = -0.4721).</p><p><strong>Conclusion: </strong>Our results suggested 2q32.3 region and HECW2 gene could negatively moderate the influence of MS on offspring's educational status.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 4","pages":"152-159"},"PeriodicalIF":0.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/81/7f/pg-33-152.PMC10325563.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10218899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging trends in gene and bipolar disorder research: a bibliometric analysis and network visualisation.","authors":"Wan Nur Amalina Zakaria,&nbsp;Adi Wijaya,&nbsp;Badriya Al-Rahbi,&nbsp;Asma Hayati Ahmad,&nbsp;Rahimah Zakaria,&nbsp;Zahiruddin Othman","doi":"10.1097/YPG.0000000000000338","DOIUrl":"10.1097/YPG.0000000000000338","url":null,"abstract":"<p><p>This study aims to use a bibliometric technique to evaluate the scientific output of gene and bipolar disorder research. The search query related to gene and bipolar disorder from the Scopus database identified 1848 documents from 1951 to 2020. The growth in the publications increased since early 1990, peaked in 2011, and started to decline thereafter. High occurrence in author keywords suggests that some research topics, such as \"polymorphism\", \"linkage\" and \"association study\" have waned over time, whereas others, such as \"DNA methylation,\" \"circadian rhythm,\" \"\" and \"meta-analysis,\" are now the emerging trends in gene and bipolar disorder research. The USA was the country with the highest production followed by the UK, Canada, Italy and Germany. The leading institutions were Cardiff University in the UK, the National Institute of Mental Health (NIMH) in the USA, King's College London in the UK and the University of California, San Diego in the USA. The leading journals publishing gene and bipolar literature were the American Journal of Medical Genetics Neuropsychiatric Genetics, Molecular Psychiatry and Psychiatric Genetics. The top authors in the number of publications were Craddock N, Serretti A and Rietschel M. According to the co-authorship network analysis of authors, the majority of the authors in the same clusters were closely linked together and originated from the same or neighbouring country. The findings of this study may be useful in identifying emerging topics for future research and promoting research collaboration in the field of genetic studies related to bipolar disorder.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 3","pages":"102-112"},"PeriodicalIF":0.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}