Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?

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

authors： Zeman A,Daniels G,Tilley L,Dunn M,Toplis L,Bullock T,Poole J,Blackwood D

更新日期：2005-12-01 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

authors： Kitao Y,Inada T,Arinami T,Hirotsu C,Aoki S,Iijima Y,Yamauchi T,Yagi G

更新日期：2000-09-01 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

authors： Blackwood DH,Muir WJ,Stephenson A,Wentzel J,Ad'hiah A,Walker MJ,Papiha SS,St Clair DM,Roberts DF

更新日期：1996-07-01 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

authors： Harvey M,Gagné B,Labbé M,Barden N

更新日期：2007-02-01 00:00:00

abstract：:The 12th Annual Pharmacogenetics in Psychiatry meeting was held in Hollywood, Florida, from 31 May to 1 June 2013, in conjunction with the NCDEU meeting. It included a series of oral presentations as well as a poster session. This report summarizes the presentations at the conference. ...

journal_title：Psychiatric genetics

authors： Zhang JP,Aitchison KJ,Malhotra AK

更新日期：2014-10-01 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

authors： Jeong SH,Choi KS,Lee KY,Kim EJ,Kim YS,Joo EJ

更新日期：2015-06-01 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

authors： Lung FW,Chen N,Shu BC

更新日期：2006-08-01 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

authors： Tochigi M,Umekage T,Kato C,Marui T,Otowa T,Hibino H,Otani T,Kohda K,Kato N,Sasaki T

更新日期：2005-03-01 00:00:00

abstract：:A limited number of rare missense mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene have been reported. They are associated with a variety of phenotypes including cerebral haemorrhage, multi-infarct dementia and Alzheimer's disease. We recently reported an alanine to valine mutation in codon 713...

journal_title：Psychiatric genetics

authors： Morris S,Leung J,Sharp C,Blackwood D,Muir W,St Clair D

更新日期：1994-04-01 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

authors： Inkster B,Muglia P,Jain U,Kennedy JL

更新日期：2004-06-01 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

authors： Bani-Fatemi A,Strauss J,Zai C,Wong AHC,de Luca V

更新日期：2017-12-01 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

authors： Laurent C,Bodeau-Péan S,Campion D,d'Amato T,Jay M,Dollfus S,Thibault F,Petit M,Samolyk D,Martinez M

更新日期：1994-01-01 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

authors： Van Den Eede F,Venken T,Van Den Bogaert A,Del-Favero J,Norrback KF,Nilsson LG,Adolfsson R,Van Broeckhoven C,Claes SJ

更新日期：2007-10-01 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

authors： Lin MW,Curtis D,Williams N,Arranz M,Nanko S,Collier D,McGuffin P,Murray R,Owen M,Gill M

更新日期：1995-10-01 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

authors： Walder DJ,Trotman HD,Cubells JF,Brasfield J,Tang YL,Walker EF

更新日期：2010-08-01 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

authors： Kantojärvi K,Onkamo P,Vanhala R,Alen R,Hedman M,Sajantila A,Nieminen-von Wendt T,Järvelä I

更新日期：2010-06-01 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

authors： Janka Z,Juhász A,Rimanóczy A,Boda K,Márki-Zay J,Palotás M,Kuk I,Zöllei M,Jakab K,Kálmán J

更新日期：2002-03-01 00:00:00

abstract：:Disturbed glutamatergic neurotransmission has been implicated in the pathogenesis of schizophrenia and bipolar disorder, with the N-methy-D-aspartate receptors being in the focus of research. The NR1 subunit, which is encoded by the gene GRIN1, plays a key role in the functionality of N-methy-D-aspartate receptors. We...

journal_title：Psychiatric genetics

authors： Georgi A,Jamra RA,Schumacher J,Becker T,Schmael C,Deschner M,Höfels S,Wulff M,Schwarz M,Klopp N,Illig T,Propping P,Cichon S,Nöthen MM,Rietschel M,Schulze TG

更新日期：2006-10-01 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

authors： Hayden EP,Klein DN,Dougherty LR,Olino TM,Laptook RS,Dyson MW,Bufferd SJ,Durbin CE,Sheikh HI,Singh SM

更新日期：2010-12-01 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

authors： Ancín I,Barabash A,Vázquez-Álvarez B,Santos JL,Sánchez-Morla E,Martínez JL,Aparicio A,Peláez JC,Díaz JA

更新日期：2010-12-01 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

authors： Shiffrin ND,Gruber J,Glatt SJ,Faraone SV

更新日期：2013-08-01 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

authors： Vrijsen JN,Vogel S,Arias-Vásquez A,Franke B,Fernández G,Becker ES,Speckens A,van Oostrom I

更新日期：2015-06-01 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

authors： Ricketts MH,Hamer RM,Sage JI,Manowitz P,Feng F,Menza MA

更新日期：1998-07-01 00:00:00

abstract：:Dysregulation of the immune system has been suggested to play a role in the complex etiology of obsessive-compulsive disorder. In this context, tumor necrosis factor-alpha is considered an interesting candidate for genetic studies as overproduction of tumor necrosis factor-alpha, which may be genetically modulated, ca...

journal_title：Psychiatric genetics

authors： Zai G,Arnold PD,Burroughs E,Richter MA,Kennedy JL

更新日期：2006-02-01 00:00:00

abstract：:Since the function and metabolism of peripheral lymphocytes is known to be altered in Alzheimer's disease (AD), a pilot study was carried out to examine differences in gene expression profiles of these cells in 16 AD patients and aged control probands. Using a cDNA microarray representing 3200 distinct human genes, we...

journal_title：Psychiatric genetics

authors： Kálmán J,Kitajka K,Pákáski M,Zvara A,Juhász A,Vincze G,Janka Z,Puskás LG

更新日期：2005-03-01 00:00:00

abstract：:Catechol-O-methyltransferase (COMT) catalyses the methylation, and hence the inactivation, of catecholamines including the neurotransmitters dopamine and noradrenaline. There is evidence implicating COMT as a candidate gene for a number of neuropsychiatric conditions including bipolar disorder. A long recognized popul...

journal_title：Psychiatric genetics

authors： Mynett-Johnson LA,Murphy VE,Claffey E,Shields DC,McKeon P

更新日期：1998-01-01 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

authors： Gotoh L,Mitsuyasu H,Kobayashi Y,Oribe N,Takata A,Ninomiya H,Stanton VP Jr,Springett GM,Kawasaki H,Kanba S

更新日期：2009-12-01 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

authors： Devon RS,Anderson S,Teague PW,Burgess P,Kipari TM,Semple CA,Millar JK,Muir WJ,Murray V,Pelosi AJ,Blackwood DH,Porteous DJ

更新日期：2001-06-01 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

authors： Baron M

更新日期：1997-04-01 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

authors： Hodge SE,Wickramaratne P

更新日期：1995-04-01 00:00:00