Abstract:
:We have undertaken a search for polymorphic sequence variation within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2 (DISC1 and DISC2), which are both novel genes that span a translocation breakpoint strongly associated with schizophrenia and related psychoses in a large Scottish family. A scan of the coding sequence, intron/exon boundaries, and part of the 5' and 3' untranslated regions of DISC1, plus 2.7 kb at the 3' end of DISC2, has revealed a novel microsatellite and 15 novel single nucleotide polymorphisms (SNPs). We have tracked the inheritance of four of the SNPs through multiply affected families, and carried out case-control association studies using the microsatellite and four common SNPs on populations of patients with schizophrenia or bipolar affective disorder versus normal control subjects. Neither co-segregation with disease status nor significant association was detected; however, we could not detect linkage disequilibrium between all these markers in the control population, arguing that an even greater density of informative markers is required to test rigorously for association in this genomic region.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Devon RS,Anderson S,Teague PW,Burgess P,Kipari TM,Semple CA,Millar JK,Muir WJ,Murray V,Pelosi AJ,Blackwood DH,Porteous DJdoi
10.1097/00041444-200106000-00003subject
Has Abstractpub_date
2001-06-01 00:00:00pages
71-8issue
2eissn
0955-8829issn
1473-5873journal_volume
11pub_type
杂志文章abstract:BACKGROUND:The dopamine transporter gene (DAT1) is an established genetic risk factor for attention deficit hyperactivity disorder (ADHD). Therefore, we hypothesized that DAT1 may also influence the manifestation of ADHD-related traits in the normal population. METHODS:A quantitative association study was carried out ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000086
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:A long-term controversy exists on whether or not major psychotic disorders can be discretely divided into two groups, for example, schizophrenia and bipolar disorder. Many genes and polymorphisms have been studied for a role in both disorders, including the Val66Met (also known as rs 6265 or G196A) variant o...
journal_title:Psychiatric genetics
pub_type: 杂志文章,meta分析
doi:10.1097/YPG.0b013e32801da2e2
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Even though bupropion is first-line pharmacological agent for smoking cessation, not all the smokers successfully quit smoking by bupropion. It means other factors like genetic predisposition could contribute to the therapeutic outcome. OBJECTIVES:The aim of this study is to elucidate the question of whethe...
journal_title:Psychiatric genetics
pub_type: 临床试验,杂志文章
doi:10.1097/YPG.0b013e3282df0939
更新日期:2008-02-01 00:00:00
abstract::Gilles de la Tourette syndrome (GTS) (MIM 137580) is a complex neuropsychiatric disorder probably originating from a disturbed interplay of several neurotransmitter systems in the prefrontal-limbic-basal ganglia loop. Polygenetic multifactorial inheritance has been postulated; nevertheless, no confirmed susceptible ge...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833511ce
更新日期:2010-02-01 00:00:00
abstract::The purpose of the present study was to investigate the association between the monocyte chemoattractant protein-1 (MCP-1) promoter -2518 polymorphism and schizophrenia. One hundred and twenty-three schizophrenic inpatients and 114 healthy controls participated in this study. Genotyping was performed by polymerase cha...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000128764.07344.06
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVE:Biological evidence in both human and animal studies suggests α7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) as a suitable functional candidate for genetic studies in psychiatric populations. This gene maps to chromosome 15q13-14, a major linkage hotspot for schizophrenia (SCH) and bipolar...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a9b7a
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:The role of the human serotonin transporter protein (5-HTT) gene in psychiatric disorders suggests that its variation may influence the comorbidity pattern and the heterogeneity of alcoholism. The aim of the present study is to verify possible associations between the 5-HTTLPR control region polymorphism with...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000199449.07786.7d
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVES:Susceptibility to heroin dependence is strongly influenced by genetic factors with heritability estimates as high as 0.7. A number of genes, as well as environmental factors, are likely to contribute to its etiology. Not all individuals who have ever tried heroin at some stage during their lifetime become de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000208
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:The human adenosine A1 receptor gene (ADORA1) localizes to chromosome 1q32 is 76.8 kbp in length and contains six exons. ADORA1 is ubiquitously expressed in the central nervous system and clinical and pharmacological evidence suggest the involvement of adenosine neurotransmission in the pathogenesis of schizo...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283328e26
更新日期:2009-12-01 00:00:00
abstract::The FKBP5 protein is of importance for the function of the glucocorticoid receptor. The purpose of the present study was to examine the possible association between the different genotypes of rs1360780 in the FKBP5 gene, and clinical symptoms in patients with unipolar depression. Seven hundred eighteen patients and 67...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000228
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:The main aim of the current study was to investigate epigenetic alterations in serotonin 2A receptor (HTR2A) exon I CpG sites as possible risk factors for suicidal behavior. We also aimed to analyze the epigenetic alterations in two different tissues as epigenetic mechanisms are tissue specific. These epigene...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000183
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:Postpartum depression (PPD) is an under diagnosed and under treated mood disorder, with negative impact on both the mother and the infant's health. The aim of this study is to examine whether genetic variations in the monoaminergic neurotransmitter system, together with environmental stressors, contribute to ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328341a3c1
更新日期:2011-02-01 00:00:00
abstract::Attempts to detect anticipation in datasets have been hampered by two statistical problems: confusion about the role of correlation, and ascertainment bias. We show three things. (1) Correlation and anticipation are two distinct phenomena, such that neither high nor low correlation necessarily reveals anything about a...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199521000-00007
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:The National Institute of Mental Health's effort to rectify the underrepresentation of American Blacks in the genetic studies of psychiatric disorders has met with mixed success. This study was designed to understand some of the barriers to recruitment. METHODS:Men and women, who were of Black, White or Hisp...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/ypg.0b013e32832cec89
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVE:Tryptophan hydroxylase is the rate-limiting enzyme in the serotonin biosynthetic pathway and plays an important role in the regulation of serotonin levels. Recently, a brain-specific isoform, tryptophan hydroxylase 2 or n-tryptophan hydroxylase, has been discovered. Some studies reported genetic and functiona...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3280111877
更新日期:2007-02-01 00:00:00
abstract::Animal and human studies have implicated oxytocin in affiliative and prosocial behaviors. We tested whether genetic variation in the oxytocin receptor (OXTR) gene is associated with conduct disorder (CD). Utilizing a family-based sample of adolescent probands recruited from an adolescent substance abuse treatment prog...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32834c0cb2
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Recent research has shown that loneliness, a common problem in adolescence, may have a genetic basis. The evidence, though, was limited mostly to serotonin-related and dopamine-related genes. In the present study, we focused on the oxytocin receptor gene (OXTR). METHODS:Associations were examined in a longi...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328363f631
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVES:Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population. METHODS:In th...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a216f
更新日期:2010-06-01 00:00:00
abstract::Basal serum thyroid-stimulating hormone (TSH) levels may predict antidepressant efficacy in patients with major depressive episodes (MDE), but data are inconsistent. As the SS genotype of the 5-HTTLPR polymorphism has been associated with a lower antidepressant efficacy in women with MDE, we aimed at assessing the rel...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283457be5
更新日期:2011-10-01 00:00:00
abstract::Since Lesch and colleagues reported an association between anxiety-related traits (Neuroticism) and a functional polymorphism in the serotonin transporter gene regulatory region (5-HTTLPR), there have been several reports on 5-HTTLPR and personality traits with both positive and negative results. The present study was...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200010040-00002
更新日期:2000-12-01 00:00:00
abstract::A polymorphic 44-nucleotide insertion/deletion in the promoter region of the serotonin transporter gene (5-HTTLPR) has been shown to affect the level of expression of the serotonin transporter protein. An association between anxiety-related behavioural traits and the short form of the 5-HTTLPR has been reported. We de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199800820-00001
更新日期:1998-07-01 00:00:00
abstract:INTRODUCTION:The importance of dopamine D2 receptors (DRD2) for central nervous dopaminergic signalling makes variants in the DRD2 gene potential modulators of the risk or course of various behavioural, psychiatric or neurologic diseases (e.g. addiction, schizophrenia, Parkinson's disease). We developed Pyrosequencing ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32832d0941
更新日期:2009-10-01 00:00:00
abstract::Several studies suggest increased activity of phospholipase A2 in schizophrenic patients. In the present study, variants of four genes coding for phospholipase A2 enzyme groups (sPLA2, cPLA2, iPLA2 and PAFAH) were analysed in a case-control sample using 240 schizophrenic patients and 312 healthy controls. No differenc...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200409000-00007
更新日期:2004-09-01 00:00:00
abstract::Numerous family, twin and adoption studies have reported a strong genetic component for attention deficit hyperactivity disorder (ADHD). In addition, an extensive amount of literature has implicated abnormalities of the dopaminergic system. In view of this evidence, genes that influence dopaminergic transmission have ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000107932.32051.1c
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVE:Epidemiological and clinical studies suggest that the rates of antisocial behavior, depression, and impulsive substance use are increased among individuals diagnosed with alcohol dependence relative to those who are not. Thus, the present study conducted genome-wide linkage scans of antisocial behavior, depre...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328353fb77
更新日期:2012-10-01 00:00:00
abstract::P300 has been demonstrated abnormal for a variety of neuropsychiatric disorders, and heritability has been proposed. We analyzed the event-related potentials for three DRD2 genotype groups in 134 normal young females. The results demonstrate that there is no association for DRD2 genotype and P300 components. Our negat...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200109000-00010
更新日期:2001-09-01 00:00:00
abstract::3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gast...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000256
更新日期:2020-08-01 00:00:00
abstract::Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Follo...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000172
更新日期:2017-08-01 00:00:00
abstract::A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. The molecular mechanisms that underlie these expansions are not yet known. We have analyzed six trinucleotide repeat-containing loci [spinocerebellar ataxias (SCA1, SCA3...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200112000-00004
更新日期:2001-12-01 00:00:00
abstract::The purpose of this study was to investigate the effects of the 5-HTTLPR and brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms on self-reported Big Five personality traits and their facets in a population representative sample of adolescents. The sample consisted of both cohorts of the Estonian Children ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32834371e8
更新日期:2011-10-01 00:00:00