The 12th Annual Pharmacogenetics in Psychiatry meeting report.

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：: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：: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：: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

authors： Ravindranathan A,Coon H,DeLisi L,Holik J,Hoff M,Brown A,Shields G,Crow T,Byerley W

更新日期：1994-07-01 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

authors： Marques FZ,Hutz MH,Bau CH

更新日期：2006-06-01 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

authors： Du L,Bakish D,Hrdina PD

更新日期：2000-12-01 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

authors： Di Carlo P,Punzi G,Ursini G

更新日期：2019-10-01 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

authors： Eirich A,Biermann T,Müller CP,Kornhuber J,Benyamin B,Hulse GK,Wildenauer DB,Schwab SG

更新日期：2019-02-01 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

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

更新日期：2017-12-01 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

authors： Dehning S,Müller N,Matz J,Bender A,Kerle I,Benninghoff J,Musil R,Spellmann I,Bondy B,Möller HJ,Riedel M,Zill P

更新日期：2010-02-01 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：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

authors： Han DH,Joe KH,Na C,Lee YS

更新日期：2008-02-01 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：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

authors： Lind PA,Eriksson CJ,Wilhelmsen KC

更新日期：2009-06-01 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

authors： Chandradasa M,Williams S

更新日期：2018-06-01 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

authors： Hovatta I,Seppälä J,Pekkarinen P,Tanskanen A,Lönnqvist J,Peltonen L

更新日期：1994-10-01 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

authors： Reble E,Castellani CA,Melka MG,O'Reilly R,Singh SM

更新日期：2017-04-01 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

authors： Wassink TH,Vieland VJ,Sheffield VC,Bartlett CW,Goedken R,Childress D,Piven J

更新日期：2008-04-01 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：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

authors： Anttila S,Kampman O,Illi A,Roivas M,Mattila KM,Lassila V,Lehtimäki T,Leinonen E

更新日期：2003-06-01 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：: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

authors： Chen H,Zhou Y,Ge Z,Li Q,Sun Q,Zheng L,Lv H,Tan LH,Sun Y

更新日期：2018-02-01 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

authors： Comasco E,Sylvén SM,Papadopoulos FC,Sundström-Poromaa I,Oreland L,Skalkidou A

更新日期：2011-02-01 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：INTRODUCTION:Recent biopsychological research on stress-related psychopathology shows promising evidence for the 5-hydroxytryptamine (5-HT) transporter linked polymorphic region (5-HTTLPR) genotype by life event interaction on depression. Yet, there appears to be variability in replicating such findings. From leading c...

journal_title：Psychiatric genetics

authors： Markus CR

更新日期：2013-06-01 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

authors： Lesca G,Biancalana V,Brunel MJ,Quack B,Calender A,Lespinasse J

更新日期：2003-03-01 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

authors： Feng J,Craddock N,Jones IR,Cook EH Jr,Goldman D,Heston LL,Peltonen L,DeLisi LE,Sommer SS

更新日期：2001-03-01 00:00:00

abstract：OBJECTIVES:The genetic basis of schizophrenia is obscure. In an XX male patient with schizophrenia we previously showed that one X;Y translocation breakpoint was in pseudoautosomal region 1 (PAR1) with the effect that the proximal segment of PAR1 from the PAR1 boundary to acetylserotonin N-methyl transferase (ASMT) dis...

journal_title：Psychiatric genetics

authors： Ross NL,Mavrogiannis LA,Sargent CA,Knight SJ,Wadekar R,DeLisi LE,Crow TJ

更新日期：2003-06-01 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：: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