Abstract:
OBJECTIVES:PDLIM5 (ENH, LIM protein) [Postsynaptic Density-95/discs large/Zone occludens-1 (PDZ) and Lin-11, Isl-1, Mec-3 (LIM) domain 5;] is an adaptor protein that selectively binds protein kinase C-epsilon (PKC epsilon) to N-type Ca channels in brain neurons. As it has been suggested that alterations in protein kinase C activity might be involved in the pathophysiology of bipolar disorder (BD), PDLIM5 might play an important role in modulating susceptibility to the disease. Earlier investigations have reported altered expression of the PDLIM5 gene in postmortem brains and leukocytes of patients with BD. In a recent study, positive association for PDLIM5 single nucleotide polymorphisms (SNPs) was shown in a Japanese bipolar sample. The aim of our study was to investigate the association between PDLIM5 SNPs and BD in a case-control sample. METHODS:We genotyped SNPs rs10008257 (SNP1), rs2433320 (SNP2) and rs2433322 (SNP3) located within the 5' region of the gene in a sample that comprises of 300 bipolar patients and 300 healthy controls of Sardinian ancestry. RESULTS:In single-marker analysis, no association was found for any of the SNPs tested. After correction for multiple testing, haplotype analysis showed slight statistically significant association for a rare haplotype of SNPs 1 and 2. Although the findings presented in this paper do not provide strong evidence that the PDLIM5 gene significantly affects the pathophysiology of BD, they suggest that rare variants within the promoter region of the gene may have a marginal effect on the disorder. Further investigation on independent samples and different populations is warranted.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Squassina A,Manchia M,Manconi F,Piccardi M,Ardau R,Chillotti C,Severino G,Del Zompo Mdoi
10.1097/YPG.0b013e3282fb003dsubject
Has Abstractpub_date
2008-06-01 00:00:00pages
128-32issue
3eissn
0955-8829issn
1473-5873pii
00041444-200806000-00005journal_volume
18pub_type
杂志文章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: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::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: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 frequencies of HLA class I (HLA-A, B, C) and class II (HLA-DR, DQ) antigens were measured in 107 unrelated schizophrenic subjects and the results compared with 264 controls from south-east Scotland and a second control group of 133 individuals from north-east England. The expression of HLA-B35 was significantly re...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199622000-00004
更新日期:1996-07-01 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::Genetic factors play a role in the vulnerability to cocaine dependence. The reinforcing properties of cocaine are related to the dopaminergic system, and, in particular, the dopamine receptors have been linked to the reward mechanisms. The present study examines the role of the variants TaqI A of the dopamine D2 recep...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200509000-00006
更新日期:2005-09-01 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::The presence of genetic substructure has the potential to diminish the chances of detecting a linkage signal. Using a Markov chain Monte Carlo procedure developed by Pritchard and colleagues and implemented in the program STRUCTURE, we evaluated the evidence for genetic substructure using genotypes from 37 microsatell...
journal_title:Psychiatric genetics
pub_type: 杂志文章,多中心研究
doi:10.1097/00041444-200412000-00003
更新日期:2004-12-01 00:00:00
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::Recent reports on susceptibility loci for manic depression have sparked lively debate. The pros and cons of these findings are discussed from a methodological vantage point, with implications for linkage studies generally. ...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/00041444-199700710-00009
更新日期:1997-04-01 00:00:00
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 c...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200106000-00003
更新日期:2001-06-01 00:00:00
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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::Although current psychiatric nosology separates bipolar disorder and schizophrenia into non-overlapping categories, there is growing evidence of a partial aetiological overlap between them from linkage, genetic epidemiology and molecular genetics studies. Thus, it is important to determine whether genes implicated in ...
journal_title:Psychiatric genetics
pub_type: 信件
doi:10.1097/01.ypg.0000242190.43773.ce
更新日期:2006-12-01 00:00:00
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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::Corticotropin-releasing factor-binding protein regulates the availability of free corticotropin-releasing factor and is a functional candidate gene for affective disorders. The aim of this study was to examine the association between polymorphisms in CRF-BP gene and bipolar disorder in an isolated Swedish population. ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328133f342
更新日期:2007-10-01 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::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::Using 23 multiplex pedigrees we tested for linkage between schizophrenia and a microsatellite polymorphism for the D5 dopamine receptor gene (DRD5). Assuming autosomal dominant inheritance and a maximum penetrance of 0.6, an overall lod score of -4.54 was derived at 0% recombination. For recessive transmission the sum...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199422000-00002
更新日期:1994-07-01 00:00:00
abstract::This study investigates the genetic association between methyl-CpG-binding domain (MBD) gene polymorphisms and schizophrenia. A total of 200 family trios consisting of fathers, mothers, and affected offspring with schizophrenia were recruited as our participants. Four tag SNPs on MBD1 (rs125555, rs140689, rs140687, an...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000042
更新日期:2014-10-01 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
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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: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: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::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: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: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: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:OBJECTIVE:Recent studies have implicated the involvement of proteins regulating neurotransmitter release in the etiology of attention deficit hyperactivity disorder. On the basis of the role of synapsin III in the modulation of neurotransmitter release, we tested this gene as a candidate contributing to the genetic sus...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328012a0c6
更新日期:2007-04-01 00:00:00