Pub Date : 2023-08-01Epub Date: 2023-05-08DOI: 10.1097/YPG.0000000000000343
Gwyneth Zai, Clement C Zai, Paul D Arnold, Margaret A Richter, Gregory L Hanna, David Rosenberg, James L Kennedy
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.
{"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":null,"pages":null},"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}
Pub Date : 2023-08-01DOI: 10.1097/YPG.0000000000000342
Srishti Vashishtha, Stefan Kloiber, Gwyneth Zai
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.
焦虑障碍的治疗主要包括药物治疗和心理治疗,但相当一部分患者没有充分的临床反应。鉴于焦虑症对幸福感和生活质量的重大影响,努力确保现有治疗方法具有最高功效是相关的。这篇综述的目的是确定可能调节焦虑障碍患者心理治疗结果的遗传变异和基因,称为“治疗遗传学”。根据相关指南对当前文献进行了全面的检索。18项记录被纳入审查。七项研究报告了基因变异与心理治疗反应之间的显著关联。研究最多的多态性是5-羟色胺转运体相关多态性区(5-HTTLPR)、神经生长因子rs6330、儿茶酚- o -甲基转移酶Val158Met和脑源性神经营养因子Val166Met。然而,目前的研究结果是不一致的,因此不支持使用遗传变异来预测焦虑症的心理治疗反应。
{"title":"The therapygenetics of anxiety disorders.","authors":"Srishti Vashishtha, Stefan Kloiber, 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":null,"pages":null},"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}
Pub Date : 2023-08-01DOI: 10.1097/YPG.0000000000000346
Yehong Lu, Ruijie Zhang, Qiang Zheng
Background: 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.
Methods: 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.
Results: 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].
Conclusion: MDD and Sarcopenia might mutually have no causal effect on each other.
背景:观察性研究已经报道了抑郁症和肌肉减少症之间的关系,但抑郁症与肌肉减少症的因果关系尚不清楚。我们的目的是利用双样本孟德尔随机化(MR)方法来评估重度抑郁症(MDD)和肌肉减少症之间的因果关系。方法:利用公开的遗传汇总资料,采用一套遗传学仪器进行分析。临床上,阑尾瘦质量(ALM)和低握力(LHGS)被广泛用于肌肉减少症的诊断。双向MR分析采用反方差加权法、加权中位数法、MR- egger法、MR多效残差和和离群检验。结果:没有证据表明重度抑郁症对肌肉减少症的风险有影响。MDD与ALM [effect = -0.17 (-0.60 ~ 0.27), P = 0.449]和LHGS [effect = 0.24 (-0.46 ~ 0.93), P = 0.506]无关。肌少症与MDD无相关性[ALM:比值比(OR) = 0.999 (0.996-1.001), P = 0.374;Lhgs: or = 0.999 (0.996-1.002), p = 0.556]。结论:重度抑郁症与肌肉减少症之间可能没有因果关系。
{"title":"Depression and sarcopenia: a Mendelian randomization analysis.","authors":"Yehong Lu, Ruijie Zhang, 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":null,"pages":null},"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}
Pub Date : 2023-08-01DOI: 10.1097/YPG.0000000000000348
Berna Aygün, Nur Seda Gülcü Üstün
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.
{"title":"'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.","authors":"Berna Aygün, 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":null,"pages":null},"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}
Pub Date : 2023-08-01DOI: 10.1097/YPG.0000000000000339
Erik Fransen, Laura L M Cassiers, Viktoriia Chubar, Annick Gilles, Vincent Van Rompaey, Ilse van der Werf, Paul Van de Heyning, Stephan Claes, Bernard Sabbe, Frank R Kooy, Filip Van Den Eede
Objective: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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, Laura L M Cassiers, Viktoriia Chubar, Annick Gilles, Vincent Van Rompaey, Ilse van der Werf, Paul Van de Heyning, Stephan Claes, Bernard Sabbe, Frank R Kooy, 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":null,"pages":null},"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}
Purpose: This study aimed to investigate the associations between maternal smoking (MS) and education score in adult offspring.
Methods: 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.
Results: 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).
Conclusion: Our results suggested 2q32.3 region and HECW2 gene could negatively moderate the influence of MS on offspring's educational status.
{"title":"Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank.","authors":"Huimei Huang, Li Liu, Fenling Feng, Hongli Sun, Fei Li, Haibin Wu, Chujun Liang, Xiaomeng Chu, Yujie Ning, 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":null,"pages":null},"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}
Pub Date : 2023-06-01Epub Date: 2023-02-24DOI: 10.1097/YPG.0000000000000338
Wan Nur Amalina Zakaria, Adi Wijaya, Badriya Al-Rahbi, Asma Hayati Ahmad, Rahimah Zakaria, Zahiruddin Othman
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.
{"title":"Emerging trends in gene and bipolar disorder research: a bibliometric analysis and network visualisation.","authors":"Wan Nur Amalina Zakaria, Adi Wijaya, Badriya Al-Rahbi, Asma Hayati Ahmad, Rahimah Zakaria, 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":null,"pages":null},"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}
Pub Date : 2023-06-01Epub Date: 2023-04-17DOI: 10.1097/YPG.0000000000000341
Ioanna Mpoulimari, Elias Zintzaras
Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although genome-wide linkage studies (GWLS) and [genome-wide association studies (GWAS)] have previously identified hundreds of ASD risk gene loci, the results remain inconclusive. In this study, a genomic convergence approach of GWAS and GWLS for ASD was implemented for the first time in order to identify genomic loci supported by both methods. A database with 32 GWLS and five GWAS for ASD was created. Convergence was quantified as the proportion of significant GWAS markers located within linked regions. Convergence was not found to be significantly higher than expected by chance (z-test = 1,177, P = 0,239). Although convergence is supportive of genuine effects, the lack of agreement between GWLS and GWAS is also indicative that these studies are designed to answer different questions and are not equally well suited for deciphering the genetics of complex traits.
{"title":"Analysis of convergence of linkage and association studies in autism spectrum disorders.","authors":"Ioanna Mpoulimari, Elias Zintzaras","doi":"10.1097/YPG.0000000000000341","DOIUrl":"10.1097/YPG.0000000000000341","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although genome-wide linkage studies (GWLS) and [genome-wide association studies (GWAS)] have previously identified hundreds of ASD risk gene loci, the results remain inconclusive. In this study, a genomic convergence approach of GWAS and GWLS for ASD was implemented for the first time in order to identify genomic loci supported by both methods. A database with 32 GWLS and five GWAS for ASD was created. Convergence was quantified as the proportion of significant GWAS markers located within linked regions. Convergence was not found to be significantly higher than expected by chance (z-test = 1,177, P = 0,239). Although convergence is supportive of genuine effects, the lack of agreement between GWLS and GWAS is also indicative that these studies are designed to answer different questions and are not equally well suited for deciphering the genetics of complex traits.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9630965","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}
Pub Date : 2023-06-01Epub Date: 2022-12-20DOI: 10.1097/YPG.0000000000000335
Giovanni Castellini, Giuseppe Pierpaolo Merola, Ottone Baccaredda Boy, Vincenzo Pecoraro, Bernardo Bozza, Emanuele Cassioli, Eleonora Rossi, Valentina Bessi, Sandro Sorbi, Benedetta Nacmias, Valdo Ricca
Neuroticism, alexithymia and emotion dysregulation are key traits and known risk factors for several psychiatric conditions. In this systematic review, the aim is to evaluate the genetic contribution to these psychological phenotypes. A systematic review of articles found in PubMed was conducted. Search terms included 'genetic', 'GWAS', 'neuroticism', 'alexithymia' and 'emotion dysregulation'. Risk of bias was assessed utilizing the STREGA checklist. Two hundred two papers were selected from existing literature based on the inclusion and exclusion criteria. Among these, 27 were genome-wide studies and 175 were genetic association studies. Single gene association studies focused on selected groups of genes, mostly involved in neurotransmission, with conflicting results. GWAS studies on neuroticism, on the other hand, found several relevant and replicated intergenic and intronic loci affecting the expression and regulation of crucial and well-known genes (such as DRD2 and CRHR1). Mutations in genes coding for trascriptional factors were also found to be associated with neuroticism (DCC, XKR6, TCF4, RBFOX1), as well as a noncoding regulatory RNA (LINC00461). On the other hand, little GWAS data are available on alexythima and emotional dysregulation.
{"title":"Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits.","authors":"Giovanni Castellini, Giuseppe Pierpaolo Merola, Ottone Baccaredda Boy, Vincenzo Pecoraro, Bernardo Bozza, Emanuele Cassioli, Eleonora Rossi, Valentina Bessi, Sandro Sorbi, Benedetta Nacmias, Valdo Ricca","doi":"10.1097/YPG.0000000000000335","DOIUrl":"10.1097/YPG.0000000000000335","url":null,"abstract":"<p><p>Neuroticism, alexithymia and emotion dysregulation are key traits and known risk factors for several psychiatric conditions. In this systematic review, the aim is to evaluate the genetic contribution to these psychological phenotypes. A systematic review of articles found in PubMed was conducted. Search terms included 'genetic', 'GWAS', 'neuroticism', 'alexithymia' and 'emotion dysregulation'. Risk of bias was assessed utilizing the STREGA checklist. Two hundred two papers were selected from existing literature based on the inclusion and exclusion criteria. Among these, 27 were genome-wide studies and 175 were genetic association studies. Single gene association studies focused on selected groups of genes, mostly involved in neurotransmission, with conflicting results. GWAS studies on neuroticism, on the other hand, found several relevant and replicated intergenic and intronic loci affecting the expression and regulation of crucial and well-known genes (such as DRD2 and CRHR1). Mutations in genes coding for trascriptional factors were also found to be associated with neuroticism (DCC, XKR6, TCF4, RBFOX1), as well as a noncoding regulatory RNA (LINC00461). On the other hand, little GWAS data are available on alexythima and emotional dysregulation.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9682565","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}
Pub Date : 2023-04-01Epub Date: 2023-02-23DOI: 10.1097/YPG.0000000000000336
Wan Nur Amalina Zakaria, Teguh Haryo Sasongko, Badryia Al-Rahbi, Noorah Al-Sowayan, Asma Hayati Ahmad, Rahimah Zakaria, Aidi Ahmi, Zahiruddin Othman
This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in the pregenome-wide association studies (GWAS) and post-GWAS era. We searched the literature on genes and schizophrenia using the Scopus database. The documents increased with time, especially after the human genome project and International HapMap Project, with the highest citation in 2008. The top occurrence author keywords were discovered to be different in the pre-GWAS and post-GWAS eras, reflecting the progress of genetic studies connected to schizophrenia. Emerging keywords highlighted a trend towards an application of precision medicine, showing an interplay of environmental exposures as well as genetic factors in schizophrenia pathogenesis, progression, and response to therapy. In conclusion, the gene and schizophrenia literature has grown rapidly after the human genome project, and the temporal variation in the author keywords pattern reflects the trend of genetic studies related to schizophrenia in the pre-GWAS and post-GWAS era.
{"title":"Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization.","authors":"Wan Nur Amalina Zakaria, Teguh Haryo Sasongko, Badryia Al-Rahbi, Noorah Al-Sowayan, Asma Hayati Ahmad, Rahimah Zakaria, Aidi Ahmi, Zahiruddin Othman","doi":"10.1097/YPG.0000000000000336","DOIUrl":"10.1097/YPG.0000000000000336","url":null,"abstract":"<p><p>This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in the pregenome-wide association studies (GWAS) and post-GWAS era. We searched the literature on genes and schizophrenia using the Scopus database. The documents increased with time, especially after the human genome project and International HapMap Project, with the highest citation in 2008. The top occurrence author keywords were discovered to be different in the pre-GWAS and post-GWAS eras, reflecting the progress of genetic studies connected to schizophrenia. Emerging keywords highlighted a trend towards an application of precision medicine, showing an interplay of environmental exposures as well as genetic factors in schizophrenia pathogenesis, progression, and response to therapy. In conclusion, the gene and schizophrenia literature has grown rapidly after the human genome project, and the temporal variation in the author keywords pattern reflects the trend of genetic studies related to schizophrenia in the pre-GWAS and post-GWAS era.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9411993","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}