Psychiatric Genetics最新文献_第10页

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

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB. IIIB型迟发性粘多糖病患者的精神分裂症样表现和神经功能突然下降。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000294

Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner

{"title":"Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.","authors":"Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner","doi":"10.1097/YPG.0000000000000294","DOIUrl":"10.1097/YPG.0000000000000294","url":null,"abstract":"Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient that, at early school age, had learning disabilities compared to her classmates, especially for writing. She completed basic education in a regular school and was transferred to a secondary school for students with special needs. At 18 years of age, she presented a first psychiatric abrupt outbreak: she spent a month screaming and without sleeping. Behavioral problems then became apparent, especially hyperactivity, destructive and chaotic behavior, anxiety, and auto-aggressivity and hetero-aggressivity. A diagnosis of schizophreniform disorder was established. Clinical genetic evaluation revealed coarse face, macroglossia, coarse thick hair, and mild hepatomegaly, and the hypothesis of mucopolysaccharidosis-III was raised. Laboratory tests indicated high levels of urinary glycosaminoglycans and almost undetectable NAGLU activity, confirming the diagnosis. Sequencing of the NAGLU gene revealed the c.1318G>C (p.Gly440Arg) and c.1834A>G (p.Ser612Gly) mutations.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"199-204"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39283342","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 marks in suicide: a review. 自杀的表观遗传学标记：综述。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000297

Daniel F Ramos-Rosales, Fernando Vazquez-Alaniz, Norma Urtiz-Estrada, Eda G Ramirez-Valles, Edna M Mendez-Hernádez, Alma C Salas-Leal, Marcelo Barraza-Salas

引用次数: 1

Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral. 200分析 000名外显子组测序的英国生物库受试者未能确定影响发展为情绪障碍的概率的基因，从而导致精神病转诊。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000282

David Curtis

{"title":"Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral.","authors":"David Curtis","doi":"10.1097/YPG.0000000000000282","DOIUrl":"10.1097/YPG.0000000000000282","url":null,"abstract":"Background: Depression is moderately heritable but there is no common genetic variant which has a major effect on susceptibility. A previous analysis of 50 000 exome-sequenced subjects failed to implicate any genes or sets of genes in which rare variants were associated with risk of affective disorder requiring specialist treatment. A much larger exome-sequenced dataset is now available.Methods: Data from 200 632 exome-sequenced UK Biobank participants was analysed. Subjects were treated as cases if they had reported having seen a psychiatrist for 'nerves, anxiety, tension or depression'. Gene-wise weighted burden analysis was performed to see if there were any genes or sets of genes for which there was an excess of rare, functional variants in cases.Results: There were 22 886 cases and 176 486 controls. There were 22 642 informative genes but no gene or gene set produced a statistically significant result after correction for multiple testing. None of the genes or gene sets with the lowest P values appeared to be an obvious biological candidate.Conclusions: The results conform exactly with the expectation under the null hypothesis. It seems unlikely that the use of common, poorly defined phenotypes will produce useful advances in understanding genetic contributions to affective disorder and it might be preferable to focus instead on obtaining large exome-sequenced samples of conditions such as bipolar 1 disorder and severe, recurrent depression. This research has been conducted using the UK Biobank Resource.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"194-198"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38960786","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: 1

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene. ABCD1基因具有相同多位点变异的中国家族X连锁肾上腺脑白质营养不良的不同临床表现。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000292

Lin Zhang, Su Li Zhao, Zhi Hong Wang

{"title":"Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.","authors":"Lin Zhang, Su Li Zhao, Zhi Hong Wang","doi":"10.1097/YPG.0000000000000292","DOIUrl":"10.1097/YPG.0000000000000292","url":null,"abstract":"Objective: This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article. That conducted a follow-up study to further clarify the characteristics of this disease.Basic methods: Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing.Main results: Gene analysis showed that there were three ABCD1 variants in the proband, c.1047C>A, c.1415-1416delAG and c.1548G>A. The elder brother of the proband had the same three variants as the proband, but showed different clinical symptoms. The mother was the carrier of three variants. Multisite variants were uncovered in this family, which caused two different manifestations of adult-onset childhood cerebral ALD and adrenomyeloneuropathy.Principal conclusion: These findings further increase our knowledge about ABCD1 mutations and the associated phenotypes, which is beneficial for the genetic counseling of patients with X-ALD.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"162-167"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39283341","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: 1