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 the GLRA2 gene were scanned by DOVAM-S, a form of SSCP analysis with sufficient redundancy to detect virtually all mutations. Those analyses were performed in 113 patients with schizophrenia, and in pilot studies of patients with bipolar illness, alcoholism, puerperal psychosis, autism, and attention-deficit hyperactivity disorder (533 kb total scanned sequences). We detected three sequence changes in the coding region, all resulting in silent mutations: C894T in exon 5, C1134T in exon 7, and C1476T in exon 9. These do not alter the structure or the expression of the protein. It is unlikely that mutations in the coding region and splice junction of GLRA2 gene are associated with schizophrenia and other psychiatric diseases.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Feng J,Craddock N,Jones IR,Cook EH Jr,Goldman D,Heston LL,Peltonen L,DeLisi LE,Sommer SSdoi
10.1097/00041444-200103000-00009subject
Has Abstractpub_date
2001-03-01 00:00:00pages
45-8issue
1eissn
0955-8829issn
1473-5873journal_volume
11pub_type
杂志文章abstract::A number of genes underlie the molecular bases of intelligence. Among these is probably CALL, a novel member of the L1 gene family of neural cell adhesion molecules. By using the single strand conformation polymorphism (SSCP) protocol, we screened the regions of the CALL gene corresponding to the 5' and 3' untranslate...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199909000-00011
更新日期:1999-09-01 00:00:00
abstract::Phenylthiocarbamide (PTC) taste sensitivity is an inherited trait determined primarily by allelic variation of the taste-receptor gene TAS2R38 on chromosome 7q. Results of prior studies examining the ability to taste PTC in patients with schizophrenia have been mixed because of the difficulties in measuring PTC taste ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32835863f0
更新日期:2012-12-01 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
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: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:OBJECTIVES:Research implicates the A1 allele of the dopamine D2 receptor gene (DRD2) Taq1A polymorphism in the development of depression and anxiety. Furthermore, recent papers suggest that children with A1 allele of this gene may receive less positive parenting, and that the effects of this gene on child symptoms may ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833adccb
更新日期:2010-12-01 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::Several lines of biochemical evidence support a role of alpha2-macroglobulin (A2M) in the pathogenesis of Alzheimer's dementia (AD). A2M participates in the general defence mechanism against proteinases and it is supposed to be involved in the degradation of beta-amyloid peptide (betaAP). Furthermore, A2M has been sho...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200203000-00007
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:To explore the effect of APOE polymorphisms on patients with cognitive impairments in The Chinese Han population. MATERIALS AND METHODS:A total of 1027 cases with Alzheimer's disease (AD), 40 cases with vascular dementia (VaD), 28 cases with behavioral variant frontotemporal dementia (bvFTD), 54 cases with s...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000126
更新日期:2016-06-01 00:00:00
abstract::We report here linkage data on two families with multiple cases of schizophrenia originating from the genetically isolated population of Finland. We analyzed chromosomal DNA regions containing relevant candidate genes for schizophrenia and chromosomal regions which have been among the most widely studied in schizophre...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199400430-00004
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVES:The NOTCH4 gene has a promoter polymor-phism at position -25, which leads to the three genotypes TT, CT and CC. These have been suggested to present a novel independent genetic risk factor for schizophrenia. We conducted a prospective case-control study to explore the impact of NOTCH4 T-25C polymorphism on t...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000056681.82896.6b
更新日期:2003-06-01 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::Since 1969, several classical linkage studies suggested an X-chromosome locus for bipolar affective disorder. However, methods using highly polymorphic DNA markers have provided conflicting evidence for linkage, and an X-chromosomal locus for bipolar disorder remains controversial. More recently, Pekkarinen et al. (19...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199800830-00008
更新日期:1998-10-01 00:00:00
abstract::There is evidence for a genetic contribution to attention-deficit hyperactivity disorder (ADHD), although no candidate genes have attained genome-wide significance to date. Given that the noradrenergic system has been implicated in ADHD, the gene for the α2-adrenergic receptor (ADRA2A) has been hypothesized to contrib...
journal_title:Psychiatric genetics
pub_type: 杂志文章,meta分析
doi:10.1097/YPG.0b013e3283631509
更新日期:2013-08-01 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::The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-G...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000195
更新日期:2018-06-01 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::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; Nank...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199400440-00007
更新日期:1994-01-01 00:00:00
abstract::Evidence for a dysfunction of the N-methyl-D-aspartate (NMDA) type of ionotropic glutamate receptors in schizophrenic patients, comes from neurochemical and clinical pharmacologic data. Therefore, the NMDAR1 gene can be regarded as an interesting candidate gene for schizophrenia. Several groups have tried to identify ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200412000-00013
更新日期:2004-12-01 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: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::Developmental dyslexia (DD) is a neurobiological disorder featured by reading disabilities. In recent years, genome-wide approaches provided new perspectives to discover novel candidate genes of DD. In a previous study, rs9313548 located downstream of FGF18 showed borderline genome-wide significant association with DD...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000187
更新日期:2018-02-01 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: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:OBJECTIVE:Recent research implicates the catechol-O-methyltransferase (COMT) ValMet polymorphism in stress sensitivity, through modulation of hypothalamic-pituitary-adrenal (HPA) function. In healthy samples, Met homozygosity has been associated with greater HPA activity (i.e., cortisol) and stress sensitivity, though ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a1ff3
更新日期:2010-08-01 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: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: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::For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington's disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/YPG.0000000000000141
更新日期:2016-08-01 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