Psychiatric Genetics最新文献_第9页

Co-existing bipolar disease and 17q12 deletion: a rare case report. 共存双相情感障碍和17q12缺失:罕见病例报告

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000302

Ersel Bulu, Aysel Kalayci Yigin, Deniz Agirbasli, Omer Faruk Demirel, Cana Aksoy Poyraz, Mehmet Seven

{"title":"Co-existing bipolar disease and 17q12 deletion: a rare case report.","authors":"Ersel Bulu, Aysel Kalayci Yigin, Deniz Agirbasli, Omer Faruk Demirel, Cana Aksoy Poyraz, Mehmet Seven","doi":"10.1097/YPG.0000000000000302","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000302","url":null,"abstract":"Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb deletion in the 17q11.2-17q12 chromosome region.Materials and methods: Physical examination of the case was performed. Karyotype and microarray analyses were performed for the case and the parents.Results: Physical examination revealed mild dysmorphic features such as high and forehead, full cheeks, slightly depressed nasal bridge and arched eyebrow. Chromosomal analysis of the patient revealed 46, XX, del(17)(q12) karyotype, and parents' karyotype were normal. In the microarray analysis of patient, 1.6 megabases deletion was detected in the 17q12 region [arr(hg19) 17q12 (34,611,352-36,248,918) ×1]. The microarray analysis of the mother was normal. The father's microarray showed 473 kilobases duplication in the 11p11.12 region.Conclusion: Although 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"30-33"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10660716","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}

引用次数: 2

A scoping review and comparison of approaches for measuring genetic heterogeneity in psychiatric disorders. 精神疾病遗传异质性测量方法的范围回顾和比较。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000304

Harvey Wang, Martin Alda, Thomas Trappenberg, Abraham Nunes

引用次数: 0

Exploring the utility of current polygenic scores in capturing resilience. 探索当前多基因评分在捕捉韧性方面的效用。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000300

Brianna A Bucknor, Jaime Derringer

{"title":"Exploring the utility of current polygenic scores in capturing resilience.","authors":"Brianna A Bucknor, Jaime Derringer","doi":"10.1097/YPG.0000000000000300","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000300","url":null,"abstract":"Although resilience has been identified to be moderately heritable, little is known about the genetic variants involved. While there has not yet been a robust genome-wide association study (GWAS) of resilience, existing GWAS of related phenotypes may provide a starting point for developing our understanding of the heritability of resilience. In a sample of older, US adults (N = 9480), we examined the extent to which proxy polygenic scores (PGS) explained the variance in resilience. Four of the 32 PGS assessed (subjective wellbeing, neuroticism, depressive symptoms and educational attainment) reached significance among participants with European ancestries, but with relatively small effects (= 0.002-0.09). Notably, PGSs derived from GWAS of PTSD among participants with either European or African ancestries were uncorrelated with resilience. Even aggregated across all available proxy PGSs, existing PGSs are not sufficient to inform our understanding of the genetics underlying the heritability of resilience. A large-scale GWAS of resilience is needed as it would provide greater insight into the genetic mechanisms underlying the heritability of resilience.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"15-24"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9206898","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}

引用次数: 0

Explore the role of CR1 genetic variants in late-onset Alzheimer's disease susceptibility. 探讨CR1基因变异在晚发性阿尔茨海默病易感性中的作用。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-12-01 DOI: 10.1097/YPG.0000000000000291

Liu Lu, Qing-Yu Yao, Sha-Sha Ruan, Jia-Wei Hu, Wen-Jun Long, Wen-Zhuo Dai, Tao Ma, Xi-Chen Zhu

{"title":"Explore the role of CR1 genetic variants in late-onset Alzheimer's disease susceptibility.","authors":"Liu Lu, Qing-Yu Yao, Sha-Sha Ruan, Jia-Wei Hu, Wen-Jun Long, Wen-Zhuo Dai, Tao Ma, Xi-Chen Zhu","doi":"10.1097/YPG.0000000000000291","DOIUrl":"10.1097/YPG.0000000000000291","url":null,"abstract":"Background: Complement component (3b/4b) receptor 1 (CR1) is an interesting candidate gene which has a close connection with Alzheimer's disease, and its polymorphisms have been reported to link to the late-onset Alzheimer's disease (LOAD) susceptibility. However, the findings of these related studies are inconsistent. Objective To explore the effect of CR1 genetic variants in LOAD susceptibility. MethodsWe searched relevant studies for the period up to 1 November 2020. And odds ratios (ORs) and their 95% confidence intervals (CIs) were utilized to assess the strength of the association. In addition, we carried out a case-control association study to assess their genetic association.Results: Finally, a total of 30 articles with 30108 LOAD cases and 37895 controls were included. Significant allele frequency between LOAD patients and controls was observed in rs3818361 and rs6656401 (rs3818361, T vs. C: OR,1.18; 95% CI, 1.13-1.23; rs6656401, A vs. G: OR, 1.23; 95% CI, 1.10-1.36). Moreover, these results remain significant in subgroup of rs3818361 in Asia or America (OR,1.26; 95% CI,1.06-1.45; OR, 1.18; 95% CI, 1.13-1.24, respectively) and rs6656401 in Europe (OR = 1.26; 95% CI, 1.09-1.42). In addition, the two single nucleotide polymorphisms were proved to significantly increase LOAD risk in the overall population under the dominant model (OR = 1.12; 95% CI, 1.02-1.21; OR = 1.18, 95% CI, 1.15-1.22, respectively). Our case-control study showed that the distribution of rs6656401 genotype was significant (P = 0.000; OR, 6.889; 95% CI, 2.709-17.520), suggesting the A allele of rs6656401 is the risk allele.Conclusion: These available data indicate that rs6656401 in CR1 is significant to increase LOAD risk.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 6","pages":"216-229"},"PeriodicalIF":0.9,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39275293","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}

引用次数: 2

Epigenetic studies in suicidal ideation and behavior. 自杀意念和行为的表观遗传学研究。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-12-01 DOI: 10.1097/YPG.0000000000000298

Oluwagbenga Dada, Jessica Qian, Nzaar Al-Chalabi, Nathan J Kolla, Ariel Graff, Clement Zai, Philip Gerretsen, Vincenzo De Luca

引用次数: 4

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders. 神经发育障碍患者ASTN2基因的罕见拷贝数变异。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-12-01 DOI: 10.1097/YPG.0000000000000296

Alessia Bauleo, Alberto Montesanto, Vincenza Pace, Rossella Brando, Laura De Stefano, Domenica Puntorieri, Luca Cento, Sara Loddo, Chiara Calacci, Antonio Novelli, Elena Falcone

{"title":"Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.","authors":"Alessia Bauleo, Alberto Montesanto, Vincenza Pace, Rossella Brando, Laura De Stefano, Domenica Puntorieri, Luca Cento, Sara Loddo, Chiara Calacci, Antonio Novelli, Elena Falcone","doi":"10.1097/YPG.0000000000000296","DOIUrl":"10.1097/YPG.0000000000000296","url":null,"abstract":"Introduction: In humans the normal development of cortical regions depends on the complex interactions between a number of proteins that promote the migrations of neuronal precursors from germinal zones and assembly into neuronal laminae. ASTN2 is one of the proteins implicated in such a complex process. Recently it has been observed that ASTN2 also regulates the surface expression of multiple synaptic proteins resulting in a modulation of synaptic activity. Several rare copy number variants (CNVs) in ASTN2 gene were identified in patients with neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), attention deficit-hyperactivity disorders and intellectual disability.Methods: By using comparative genomic hybridization array technology, we analyzed the genomic profiles of five patients of three unrelated families with NDDs. Clinical diagnosis of ASD was established according to the Statistical Manual of Mental Disorders, Fifth Edition (APA 2013) criteria.Results: We identified new rare CNVs encompassing ASTN2 gene in three unrelated families with different clinical phenotypes of NDDs. In particular, we identified a deletion of about 70 Kb encompassing intron 19, a 186 Kb duplication encompassing the sequence between the 5'-end and the first intron of the gene and a 205 Kb deletion encompassing exons 6-11.Conclusion: The CNVs reported here involve regions not usually disrupted in patients with NDDs with two of them affecting only the expression of the long isoforms. Further studies will be needed to analyze the impact of these CNVs on gene expression regulation and to better understand their impact on the protein function.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 6","pages":"239-245"},"PeriodicalIF":0.9,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39326751","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}

引用次数: 4

Effects of vitamin D-related gene polymorphisms on attempted suicide. 维生素D相关基因多态性对自杀未遂的影响。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-12-01 DOI: 10.1097/YPG.0000000000000295

Yan-Xin Wei, Bao-Peng Liu, Hui-Min Qiu, Ji-Yu Zhang, Xin-Ting Wang, Cun-Xian Jia

{"title":"Effects of vitamin D-related gene polymorphisms on attempted suicide.","authors":"Yan-Xin Wei, Bao-Peng Liu, Hui-Min Qiu, Ji-Yu Zhang, Xin-Ting Wang, Cun-Xian Jia","doi":"10.1097/YPG.0000000000000295","DOIUrl":"10.1097/YPG.0000000000000295","url":null,"abstract":"Objective: Emerging evidence suggests that vitamin D might protect from attempted suicide. The study aimed to investigate the associations between single-nucleotide polymorphisms (SNPs) related to vitamin D levels identified in a large genome-wide association study and attempted suicide in rural China.Methods: This 1:1 matched case-control study included altogether 510 suicide attempters and 510 community controls. Genotypes of four target SNPs (DHCR7-rs12785878, CYP2R1-rs10741657, GC-rs2282679, and CYP24A1-rs6013897) were determined, and a genetic risk score (GRS) was constructed to evaluate the combined effect of them. Demographic and psychological information was acquired through face-to-face interviews.Results: The A allele of CYP24A1-rs6013897 was significantly associated with attempted suicide (OR = 1.27, 95% CI, 1.03-1.58, P = 0.029), even after adjusting for demographic and psychological confounders (adjusted OR = 1.53, 95% CI, 1.01-2.30, P = 0.043). The GRS analyses revealed a significantly higher risk of attempted suicide with a greater number of low vitamin D alleles (adjusted OR = 1.33, 95% CI, 1.13-1.58, P < 0.001). Subgroup analyses stratified by sex indicated that the genetic associations were only significant among males with adjusted ORs of 3.77 (95% CI, 1.56-9.10) for the A allele of rs6013897 and 2.04 (95% CI, 1.32-3.17) for GRS.Conclusions: Our findings identity CYP24A1-rs6013897 as a potential biomarker for attempted suicide and indicate that a genetic predisposition to lower vitamin D levels may contribute to attempted suicide. It suggests the possibility that vitamin D may have the preventive potential for attempted suicide.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 6","pages":"230-238"},"PeriodicalIF":0.9,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39326752","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}

引用次数: 4

Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication. 两个患有自闭症谱系障碍的兄弟姐妹和两种不同的遗传异常：父亲的16p11.2微缺失和母亲的17q12微重复。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-12-01 DOI: 10.1097/YPG.0000000000000301

Muhammed Furkan Erbay, Ali Karayağmurlu

{"title":"Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication.","authors":"Muhammed Furkan Erbay, Ali Karayağmurlu","doi":"10.1097/YPG.0000000000000301","DOIUrl":"10.1097/YPG.0000000000000301","url":null,"abstract":"Etiopathogenesis of autism spectrum disorder (ASD) is highly heterogeneous. Genetic factors play a major role in the etiology of ASD, and 16p11.2 microdeletion is one of the best-known genetic abnormalities thought to be strongly linked to ASD. Conversely, 17q12 microduplication is observed relatively rarely, yet it is reported that 17q12 recurrent duplication also results in a predisposition to ASD. Additionally, 16p11.2 microdeletion is characterized by developmental delay, intellectual disability, ASD and seizures, while 17q12 recurrent duplication is thought to be related to intellectual disability, seizures, eye or vision problems and, rarely, cardiac and renal anomalies. It also has been linked to ASD, schizophrenia, aggression and self-injury. This paper presents two different genetic abnormalities and their relations to ASD. Two siblings were studied; in one of the siblings, maternally originated 17q12 duplication was identified, and paternally originated 16p11.2 microdeletion was identified in the other sibling. To the best of the authors' knowledge, the present paper is a rare case report which shows the coexistence of 17q12 duplication, clubfoot deformity and ASD as well as 16p11.2 microdeletion, spina bifida occulta and ASD.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 6","pages":"246-249"},"PeriodicalIF":0.9,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39429350","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}

引用次数: 0

Mediating effect of genome-wide DNA methylation on suicidal ideation induced by perceived stress. 全基因组DNA甲基化对感知压力诱导的自杀意念的介导作用。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000281

Oluwagbenga Dada, Christopher Adanty, Nasia Dai, Clement Zai, Philip Gerretsen, Ariel Graff, Vincenzo de Luca

引用次数: 2

CYP2C19 polymorphisms are associated with severity of depression at initial evaluation and after the treatment independently of the prescribed medications: 4 weeks prospective study. CYP2C19多态性在初始评估和独立于处方药物治疗后与抑郁症的严重程度相关：4周前瞻性研究。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000287

Robertas Strumila, Aiste Lengvenyte, Laima Ambrozaityte, Danute Balkeliene, Algirdas Utkus, Edgaras Dlugauskas

{"title":"CYP2C19 polymorphisms are associated with severity of depression at initial evaluation and after the treatment independently of the prescribed medications: 4 weeks prospective study.","authors":"Robertas Strumila, Aiste Lengvenyte, Laima Ambrozaityte, Danute Balkeliene, Algirdas Utkus, Edgaras Dlugauskas","doi":"10.1097/YPG.0000000000000287","DOIUrl":"10.1097/YPG.0000000000000287","url":null,"abstract":"Background: The cytochrome P-450 2C19 (CYP2C19) enzyme is involved in the metabolism of numerous antidepressants. It also metabolises some endogenous substrates, which could also confer to vulnerability. We aimed to establish whether the severity of depression and treatment response are associated with the genetically predicted CYP2C19 phenotype.Methods: We assessed the CYP2C19 genotype-predicted metabolic phenotypes (normal, intermediate or ultrarapid, there were no poor metabolisers) in patients with moderate or severe depression. We used the self-rated Beck Depression Inventory-II (BDI-II) scale and the clinician-rated Montgomery-Åsberg Depression Rating Scale (MADRS) at baseline, after 2 and 4 weeks of an empirical treatment trial. Patients and clinicians were blind to the genetic testing results.Results: Seventy-six patients participated in the present study. At baseline, impaired CYP2C19 metabolisers, compared to normal metabolisers, had higher BDI-II (P = 0.046; ηp2 = 0.08) but not MADRS score. Intermediate metabolisers more often had a diagnosis of severe depression than normal metabolisers (P = 0.003). After 4 weeks of empirical treatment, intermediate metabolisers had significantly higher MADRS and BDI-II scores than normal metabolisers (P = 0.006; ηp2 = 0.131 and P = 0.030; ηp2 = 0.091). These differences were independent of the use of CYP2C19-metabolised medications in the treatment trial, as well as the treatment discrepancy status.Conclusions: Intermediate CYP2C19 polymorphism-predicted activity was associated with more severe depression after an empirical treatment trial. The lack of association between the prescription of CYP2C19-metabolised drugs and treatment response calls for a further look into the role of endogenous substrates of CYP2C19.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"177-185"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39236052","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}

引用次数: 2