Psychiatric Genetics最新文献

{"title":"A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.","authors":"Aysel Kalayci, Deniz Agirbasli, Nihal Serdengecti, Mustafa Tarik Alay, Mahmut Cem Tarakcioglu, Mehmet Seven","doi":"10.1097/YPG.0000000000000378","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000378","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial. The index case is a 3-year-old male, whose family applied to the child psychiatry outpatient clinic due to failure to speak at 30 months. He had mild dysmorphic features. He is diagnosed with ASD according to DSM-V criteria. Chromosomal analysis revealed mos 48,XYYY[28]/47,XYY[72] karyotype. In FISH analysis, nuc ish (DXZ1x1, DYZ1x3)[44]/(DXZ1x1, DYZ1x2)[156] was detected. WES results displayed a heterozygous missense variant of uncertain significance c.3545G>A in the CACNA1E gene. XYY syndrome is one of the most common sex chromosome aneuploidies, and ASD is detected 20 times more likely than males in general population. To the best of our knowledge, the first case with the coexistence of mosaic 48,XYYY/47,XYY karyotype and CACNA1E variant together may contribute to phenotypic heterogeneity. Further investigation into the functionality of the variant in CACNA1E is needed.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 6","pages":"134-139"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626718","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":"Association of NTRK2 gene with suicidality: a meta-analysis.","authors":"Wenzhu Ye, Ruo Su Zhang, Georgina M Hosang, Chiara Fabbri, Nicole King, John Strauss, Ian Jones, Lisa Jones, Gerome Breen, James L Kennedy, John B Vincent, Clement C Zai","doi":"10.1097/YPG.0000000000000373","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000373","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that genes in brain development pathways may have important roles in affecting risk of suicidal behaviors, with our previous meta-analysis supporting a role of the brain-derived neurotrophic factor (BDNF) gene. NTRK2 is a gene that encodes the neurotrophic receptor tyrosine kinase 2, which is a receptor for BDNF. In the current study, we aim to examine the potential association between NTRK2 single nucleotide polymorphism (SNPs) and suicidal ideation/behaviors.</p><p><strong>Methods: </strong>We first conducted a literature search using keywords like 'NTRK2', 'TRKB', and 'suicid*' to identify papers on NTRK2 SNPs and suicidal ideation/behaviors. In addition, we have individual-level genotype data for all the identified SNPs in literature search. We used the R meta package to perform meta-analyses on both the genotype count and the allele count data. Moreover, we performed meta-analyses on specific haplotypes within each haplotype block.</p><p><strong>Main results: </strong>Following our literature search and meta-analyses on 20 NTRK2 SNPs across up to 8467 samples, we found three SNPs, rs10868235 [N = 5,318, odds ratio (OR) = 1.34, P = 0.02], rs1867283 (N = 5,134, OR = 0.73, P = 0.04), and rs1147198 (N = 5,132, OR = 1.36, P = 0.03) to be nominally associated with suicidal attempts. Those three findings, however, did not survive multiple-testing corrections. Also, none of the haplotype blocks showed significant involvement in suicidality.</p><p><strong>Conclusion: </strong>Our results suggest that the NTRK2 gene may not have a major role in suicidality. Future efforts, however, should explore gene-gene interaction and pathway analyses.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 6","pages":"124-133"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626652","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":"The association among multiple-site chronic pain, sedentary behavior, and major depressive disorders: a mendelian randomization study.","authors":"Nan-Xi Li, Cheng-Feng Chen, Bin Zhang","doi":"10.1097/YPG.0000000000000376","DOIUrl":"10.1097/YPG.0000000000000376","url":null,"abstract":"<p><strong>Objective: </strong>Observational studies have reported that major depressive disorder (MDD) is associated with sedentary behavior (SB) and multiple chronic pain (MCP), but their associations remain unclear. Mendelian randomization analysis was used to assess the association.</p><p><strong>Methods: </strong>Single nucleotide polymorphisms (SNPs) associated with MCP, SB [time spent watching television (Tel), using a computer (Com), or driving (Dri)], and MDD were collected from genome-wide association studies and screened as instrumental variants with a threshold of 1 × 10 -5 . Mendelian randomization was performed to examine their associations. Sensitivity analyses were conducted to evaluate robustness.</p><p><strong>Results: </strong>MCP was associated with a higher risk of MDD [odds ratio (OR) inverse variance weighting (IVW)  = 1.88; 95% confidence interval (CI), 1.64-2.15; P  = 4.26 × 10 -8 ), and causally related to SB (Tel: OR IVW  = 1.23; 95% CI, 1.19-1.26; P  = 6.02 × 10 -38 ) (Dri: OR IVW  = 1.05; 95% CI, 1.03-1.08; P  = 3.92 × 10 -5 ). Causality of SB on MCP was detected for Tel (OR IVW  = 1.46; 95% CI, 1.39-1.53; P  = 1.40 × 10 -54 ) and Com (OR IVW  = 0.88; 95% CI, 0.83-0.93; P  = 2.50 × 10 -6 ). No association was observed for SB on MDD. There is currently insufficient evidence to support that leisure activities are a mediating factor in MCP-induced MDD.</p><p><strong>Conclusion: </strong>There are complex relationships among MCP, SB, and MDD. More research and learning about potential relationships and mechanisms among these phenotypes should be supplied.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"115-123"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154815","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":"Genomics and pharmacogenomics of cluster headache: implications for personalized management? A systematic review.","authors":"Ulker Isayeva, Pasquale Paribello, Enrico Ginelli, Claudia Pisanu, Stefano Comai, Bernardo Carpiniello, Alessio Squassina, Mirko Manchia","doi":"10.1097/YPG.0000000000000380","DOIUrl":"10.1097/YPG.0000000000000380","url":null,"abstract":"<p><p>The role of genetic factors in cluster headache etiology, suggested by familial and twin studies, remains ill-defined, with the exact pathophysiological mechanisms still largely elusive. This systematic review aims to synthesize current knowledge on cluster headache genetics and explore its implications for personalized treatment and prediction of treatment response. Thus, we searched PubMed, Scopus, and the Cochrane Library databases and reference lists of identified research articles, meta-analyses, and reviews to identify relevant studies up to 10 July 2024. The quality of the evidence was assessed using Newcastle-Ottawa Scale for case control studies and NIH Quality Assessment tool for Observational Cohort and Cross-Sectional Studies. The protocol of this study was registered via the Open Science Framework (https://osf.io/cd4s3). Fifty-one studies were selected for the qualitative synthesis: 34 candidate gene studies, 5 GWAS, 7 gene expression studies, 4 pharmacogenetic association studies, and 1 whole genome sequencing study. The bulk of genetic evidence in cluster headache underscores the involvement of genes associated with chronobiological regulation. The most studied gene in cluster headache is the HCRTR2, which is expressed in the hypothalamus; however, findings across studies continue to be inconclusive. Recent GWAS have uncovered novel risk loci for cluster headache, marking a significant advancement for the field. Nevertheless, there remains a need to investigate various genes involved in specific mechanisms and pathways.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668894","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":"Further evidence of the role of microRNA in schizophrenia: a case report.","authors":"Cecilia Sanjuan-Ortiz, Luis M Rojo-Bofill, Monica Rosello, Carmen Orellana, Carmen Iranzo-Tatay","doi":"10.1097/YPG.0000000000000374","DOIUrl":"10.1097/YPG.0000000000000374","url":null,"abstract":"<p><p>According to the neurodevelopmental hypothesis of schizophrenia, genetic predisposing factors cause abnormalities in neural functions, leading to the disease. A 2-year follow-up of a young woman with schizophrenia is presented. Karyotype, Affymetrix CytoScan TM 750K SNP array, and optical genome mapping ultra-high molecular weight were carried out. The case presented a severe and resistant to treatment schizophrenia. A 404 kbp microduplication in 2q13 (chr2 : 112088944-112492811; Hg19) was revealed, which includes an only gene ( MIR4435-2HG , OMIM 617144). The Positive and Negative Syndrome Scale of Schizophrenia questionnaire showed a moderate improvement after 2 years, but functioning was still poor. The presented case had a microduplication of copy number variants at 2q13, previously linked to schizophrenia, but it only involved one gene, encoding a microRNA, which regulates the expression of candidate genes associated to neurodevelopment. This case provides further evidence of the importance of microRNA in the pathogenesis of schizophrenia.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"111-114"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141620788","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":"Prenatal diagnosis and molecular cytogenetic analyses of a homozygous Robertsonian translocation family with novel mosaic Robertsonian fission karyotype.","authors":"Zhen Xu, Huili Luo, Manman Li, Liu OuYang, Zhi Xia","doi":"10.1097/YPG.0000000000000377","DOIUrl":"10.1097/YPG.0000000000000377","url":null,"abstract":"<p><strong>Background: </strong>Approximately one person in 1000 is a Robertsonian translocation carrier. Errors in the formation of eggs (or more rarely of sperms) may be the cause of Robertsonian translocation. Most Robertsonian translocation carriers are healthy and have a normal lifespan, but do have an increased risk of offsprings with trisomies and pregnancy loss. The fitness of Robertsonian translocation carriers is reduced, but can provide material for evolution.</p><p><strong>Materials and methods: </strong>We have done prenatal diagnosis and molecular cytogenetic analyses on this homozygous Robertson translocation family. We report a homozygous Robertson translocation family with previously undescribed mosaic Robertsonian fission karyotype.</p><p><strong>Results: </strong>We identified six Robertsonian translocation carriers in this family. Four were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10), one was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10), and one was a previously undescribed Robertsonian fission carrier of 45,XN,der(14;15)(q10;q10)[42]/46,XN[58] with normal phenotype.</p><p><strong>Conclusion: </strong>We reported a previously undescribed mosaic Robertsonian fission karyotype. The homozygosity of Robertsonian translocation for speciation may be a potential mechanism of speciation in humans. In theory, the carriers of homologous Robertsonian translocation cannot produce normal gametes, but Robertson fission made it possible for them to produce normal gametes.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"106-110"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154795","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":"Genetic association of SLC6A3 (dopamine transporter) gene polymorphisms with personality disorders and substance abuse disorders: a systematic review and meta-analysis.","authors":"Angeliki V Vogiatzoglou, Panagiota I Kontou, Pantelis G Bagos, Georgia G Braliou","doi":"10.1097/YPG.0000000000000375","DOIUrl":"10.1097/YPG.0000000000000375","url":null,"abstract":"<p><strong>Introduction: </strong>Personality disorders (PD) are characterized by socially dysfunctional behavioral patterns that affect patients and show higher incidence rates within families. Substance abuse disorders (SAD) are exemplified by extensive and prolonged use of substances, including alcohol, nicotine, or illegal drugs. Genetic predisposition for both PD and SAD has been reported to involve gene variants regulating dopaminergic pathways. Yet, discrepancy among reported results necessitates further elucidation of potential hereditary-related risk factors. Because both disorders impose a societal burden, knowledge on the impact of certain genetic backgrounds on these diseases could help develop evidence-based strategies for efficacious treatment approaches.</p><p><strong>Materials and methods: </strong>In the present study a systematic review was performed, and the association between dopamine transporter gene polymorphism (SLC6A3), particularly rs28363170 entailing a 40-bp variable number tandem repeat, and PD as well as SAD was investigated recruiting meta-analysis approach.</p><p><strong>Results: </strong>Initial literature search for PD yielded 1577, from which nine fulfilled eligibility criteria to be used in a meta-analysis including 729 cases and 2113 controls. From the 934 studies retrieved for SAD, only 29 articles with 5221 cases and 4822 controls were used for meta-analysis. A statistically significant association was seen between rs28363170 (for the 9-repeat allele) and PD in European populations according to the co-dominant mode of inheritance. For SAD no statistically significant correlation under any mode of inheritance was observed. There was no indication of time-trend phenomena.</p><p><strong>Conclusion: </strong>Our findings demonstrate the association of SLC6A3 gene polymorphism with PD, thus underling the need to understand neurobiological mechanisms inherent to the above disorders to guide treatment strategies under the perspective of personalized medicine.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 5","pages":"93-105"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293963","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":"Comparison of microRNA expression levels in patients with schizophrenia before and after electroconvulsive therapy.","authors":"Nazife Gamze Usta Saglam, Mehmet Bugrahan Duz, Seda Salman Yilmaz, Mustafa Ozen, Ibrahim Balcioglu","doi":"10.1097/YPG.0000000000000371","DOIUrl":"10.1097/YPG.0000000000000371","url":null,"abstract":"<p><strong>Objective: </strong>Exploring the role of microRNAs in the antipsychotic efficacy of electroconvulsive therapy (ECT) will contribute to understanding the underlying mechanism through which ECT exerts its therapeutic effects. The primary objective of this study was to identify microRNA alterations before and after ECT in patients with schizophrenia.</p><p><strong>Methods: </strong>We compared microarray-based microRNA profiles in peripheral blood from eight patients with schizophrenia before and after ECT and eight healthy controls. Then, we aimed to validate selected differentially expressed microRNAs in 30 patients with schizophrenia following a course of ECT, alongside 30 healthy controls by using quantitative reverse-transcription PCR.</p><p><strong>Results: </strong>Microarray-based expression profiling revealed alterations in 681 microRNAs when comparing pre- and post-ECT samples. Subsequent quantitative reverse-transcription PCR analysis of the selected microRNAs (miR-20a-5p and miR-598) did not reveal any statistical differences between pre- and post-ECT samples nor between pre-ECT samples and those of healthy controls.</p><p><strong>Conclusion: </strong>As neuroepigenetic studies on ECT are still in their infancy, the results reported in this study are best interpreted as exploratory outcomes. Additional studies are required to explore the potential epigenetic mechanisms underlying the therapeutic efficacy of ECT.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"79-85"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262743","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":"Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.","authors":"Kara Tauer, Caroline Theile, Joshua W Owens, Kim M Cecil, Amelle Shillington","doi":"10.1097/YPG.0000000000000372","DOIUrl":"10.1097/YPG.0000000000000372","url":null,"abstract":"<p><p>X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small cohorts have suggested that supplementation of creatine, arginine, and glycine can stop disease progression in males, but only six cases of supplementation in females have been published. Here, we present a female with a de-novo pathogenic SLC6A8 variant who had ongoing weight loss, mild intellectual disability, and neuropsychiatric symptoms. Magnetic resonance spectroscopy of the brain showed reduced creatine on all acquired spectra. The patient was started on creatine-monohydrate, l -arginine, and l -glycine supplementation, and she had significant symptomatic improvement within the following 3 weeks. After 8 months of supplementation, magnetic resonance spectroscopy showed improved creatine concentrations with normalizing semiquantitative ratios with other brain metabolites. Current data supports clinicians trialing creatine, arginine, and glycine supplements for female patients with creatine transporter deficiency.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"86-90"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262735","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":"Whole-exome sequencing implicates 16p13.2 as a risk locus for attention-deficit/hyperactivity disorder in the Faroese population.","authors":"Noomi O Gregersen, Leivur N Lydersen, Marjun Biskopstø, Julia F Zachariasen, Rókur F Jespersen, Tórmóður Stórá, Guðrið Andorsdóttir, August G Wang","doi":"10.1097/YPG.0000000000000370","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000370","url":null,"abstract":"","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 4","pages":"91"},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493178","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}