Abstract:
:A new structural polymorphism (Ser311/Cys311) in the dopamine D2 receptor (DRD2) gene has recently been reported to be associated with schizophrenia, particularly in patients with a positive family history of schizophrenia (Arinimi et al., 1994). However these findings remain controversial (Asherson et al., 1994; Nanko et al., 1994; Nöthen et al., 1994; Shaikh et al., 1994). Thus we investigated the role of the Cys311 mutation in schizophrenia using both association and family studies. First, we screened for the Cys311 mutation in 113 unrelated Caucasian schizophrenics (mean age 42 +/- 0.6; 34 females and 79 males) including 25 familial cases, and 184 unrelated controls (mean age 49 +/- 0.5, 74 females and 110 males) free of any psychiatric disorders. Diagnoses were ascertained according to DSM-III criteria (Campion et al., 1994). All patients and controls were native to the area of Rouen.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Laurent C,Bodeau-Péan S,Campion D,d'Amato T,Jay M,Dollfus S,Thibault F,Petit M,Samolyk D,Martinez Mdoi
10.1097/00041444-199400440-00007subject
Has Abstract,Author List Incompletepub_date
1994-01-01 00:00:00pages
229-30issue
4eissn
0955-8829issn
1473-5873journal_volume
4pub_type
杂志文章abstract::As an initial step for genome-wide association studies, we sought an association between schizophrenia and 34 microsatellite markers on chromosomes 19, 20, 21 and 22 by a case-control design. The samples examined for an association were 168 schizophrenic patients and 146 control subjects in the Japanese population. Th...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200010030-00006
更新日期:2000-09-01 00:00:00
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::Altered intracellular calcium homeostasis and oxidative stress are involved in the pathophysiology of bipolar disorder (BD)-I. To explore the genes contributing to these abnormalities, we examined the association with BD of the iPLA2β (PLA2G6), a signaling enzyme that mobilizes the arachidonic acid signaling cascade a...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32835d700d
更新日期:2013-04-01 00:00:00
abstract:OBJECTIVE:Autism spectrum disorders (ASD) often show obsessive repetitive symptoms that are characteristic to obsessive-compulsive disorder (OCD). Aberrant glutamate function has been suggested to a risk for both ASDs and OCD. Considering the common metabolic pathway and recent results from association studies both in ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a2080
更新日期:2010-06-01 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:BACKGROUND:Abnormal expressions of the N-methyl-D-aspartate receptor and its interacting postsynaptic density (PSD) molecules have been hypothesized to be involved in the pathophysiology of schizophrenia. Few studies have carried out association studies with DLG4 gene (coding PSD-95 protein) and sought to validate the ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283643671
更新日期:2013-12-01 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: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::The candidate genes tyrosine hydroxylase (TH) and the dopamine D4 receptor gene (DRD4) are both located in the 11p15.5 region, thus creating strong interest in this region for genetic studies of bipolar affective disorder. It is conceivable that disregulation of the dopamine system could arise from genetic defects in ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199422000-00006
更新日期:1994-07-01 00:00:00
abstract::The glycine receptor, which is a member of the ligand-gated ion channel superfamily, mediates synaptic inhibition in the spinal cord and other brain regions. This superfamily has been implicated in the pathogenesis of schizophrenia and other psychiatric diseases. The complete coding sequence and splice junctions of th...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200103000-00009
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:The dopamine D4 receptor (DRD4) is a candidate gene for increasing genetic susceptibility to schizophrenia. A recent study found that a -521C>T promoter base pair change affects transcriptional regulation of the DRD4 gene. The present study was designed to investigate the role of both the -521C>T single nucle...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000199446.54420.ff
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVES:The OPRL1 gene encodes the nociceptin/orphanin FQ receptor, which plays a role in regulating tolerance and behavioral responses to morphine. However, there is limited information on whether variants of OPRL1 are associated with vulnerability to develop opiate addiction. In this study, we examined five varian...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833511f6
更新日期:2010-04-01 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::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::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::The brain-derived neurotrophic factor (BDNF) is a secretory growth factor that promotes neuronal proliferation and survival, synaptic plasticity and long-term potentiation in the central nervous system. Brain-derived neurotrophic factor biosynthesis and secretion are chrono-topically regulated processes at the cellula...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/YPG.0000000000000237
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Ethanol-induced dopamine (DA) release in the mesolimbic system may reinforce excessive alcohol intake and the progression of alcohol dependence. Within this reward system, the DA transporter (DAT1) plays a key role in the regulation of dopaminergic neurotransmission through presynaptic DA reuptake. OBJECTIV...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32832a4f7b
更新日期:2009-06-01 00:00:00
abstract::A number of studies have observed associations between the serotonin 2A (5-HT2A) receptor and mental disorders. Here, we investigated correlations between polymorphisms (-1438G/A and 102T/C) of the 5-HT2A gene and personality traits in healthy Japanese volunteers (n = 239). The personality traits were evaluated using ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200503000-00011
更新日期:2005-03-01 00:00:00
abstract::Genetic research of cocaine abuse has been relatively limited among the African-American population. Since the serotonin transporter (5HTT) may be involved in modulating effects of cocaine, we investigated whether allelic variants of the 5HTT gene may confer susceptibility to cocaine dependence among African-American ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200209000-00007
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVE:To apply phenotypic and statistical methods designed to account for heterogeneity to linkage analyses of the autism Collaborative Linkage Study of Autism (CLSA) affected sibling pair families. METHOD:The CLSA contains two sets of 57 families each; Set 1 has been analyzed previously, whereas this study presen...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3282f9b48e
更新日期:2008-04-01 00:00:00
abstract::Family, twin and adoption studies highlight the influence of genes in the aetiology of schizophrenia, though the mode of inheritance is unclear. We have been conducting a systematic search for major genes in schizophrenia using a series of multiply affected families and report preliminary results of linkage under hete...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199505030-00004
更新日期:1995-10-01 00:00:00
abstract::Introduction Schizophrenia is recognized as one of the most important mental illnesses of the last century. Many genetic and environmental factors are involved in this condition. Recently, the genome-wide association study identified two significant genes LRP8 and CEP85L associated with psychiatric disorders. LRP8 (lo...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000266
更新日期:2020-12-01 00:00:00
abstract::A 50-year-old man presented with worsening, virtually lifelong, chorea and progressive behavioural disturbance, involving disinhibition and hoarding, over 10 years. Clinical assessment revealed chorea, dysarthria, areflexia, an inappropriately jovial, impulsive manner and neuropsychological evidence of frontosubcortic...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200512000-00012
更新日期:2005-12-01 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:BACKGROUND:FRAXE is a second locus associated with X chromosome fragility. Similar to FRAXA, the common mutation is a GCC expansion located in the 5' untranslated region, leading to the hypermethylation of the region and to the subsequent inactivation of specific genes (FMR1 and FMR2, respectively). Unlike FRAXA, FRAXE...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200303000-00007
更新日期:2003-03-01 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:OBJECTIVES:Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000162
更新日期:2017-04-01 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::Catechol-O-methyltransferase (COMT) metabolizes catecholamines such as dopamines, noradrenaline and adrenaline. It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphisms), and high red blood cell activity of COMT has previously been associated with schizop...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199723000-00001
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Genetic, environmental, and cognitive factors play a role in the development and recurrence of depression. More specifically, cognitive biases have been associated with depression risk genes and life events. Recently, the mineralocorticoid receptor NR3C2 gene, and in particular the rs5534 polymorphism, has b...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000081
更新日期:2015-06-01 00:00:00