Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.

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：: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

authors： Yilmaz Z,Szatkiewicz JP,Crowley JJ,Ancalade N,Brandys MK,van Elburg A,de Kovel CGF,Adan RAH,Hinney A,Hebebrand J,Gratacos M,Fernandez-Aranda F,Escaramis G,Gonzalez JR,Estivill X,Genetic Consortium for Anorexia Nervosa, Well

更新日期：2017-08-01 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

authors： Sidenberg DG,King N,Kennedy JL

更新日期：1994-07-01 00:00:00

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 kina...

journal_title：Psychiatric genetics

authors： Squassina A,Manchia M,Manconi F,Piccardi M,Ardau R,Chillotti C,Severino G,Del Zompo M

更新日期：2008-06-01 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：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：OBJECTIVE:Epidemiological and clinical studies suggest that the rates of antisocial behavior, depression, and impulsive substance use are increased among individuals diagnosed with alcohol dependence relative to those who are not. Thus, the present study conducted genome-wide linkage scans of antisocial behavior, depre...

journal_title：Psychiatric genetics

authors： Gizer IR,Ehlers CL,Vieten C,Feiler HS,Gilder DA,Wilhelmsen KC

更新日期：2012-10-01 00:00:00

abstract：:The purpose of the present study was to investigate the association between the monocyte chemoattractant protein-1 (MCP-1) promoter -2518 polymorphism and schizophrenia. One hundred and twenty-three schizophrenic inpatients and 114 healthy controls participated in this study. Genotyping was performed by polymerase cha...

journal_title：Psychiatric genetics

authors： Pae CU,Chung KI,Kim JJ,Yu HS,Lee CU,Lee SJ,Lee C,Jun TY,Serretti A,Paik IH

更新日期：2004-06-01 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：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：: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：: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

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：: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：: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

authors： Messas G,Meira-Lima I,Turchi M,Franco O,Guindalini C,Castelo A,Laranjeira R,Vallada H

更新日期：2005-09-01 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：: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

authors： Sakai JT,Crowley TJ,Stallings MC,McQueen M,Hewitt JK,Hopfer C,Hoft NR,Ehringer MA

更新日期：2012-04-01 00:00:00

abstract：:3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gast...

journal_title：Psychiatric genetics

authors： Kaur H,Thom RP,Neumeyer AM,Bilancia CG,Wray SH,McDougle CJ

更新日期：2020-08-01 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：: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：: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：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：: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：: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：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 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：: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

authors： Prata DP,Breen G,Munro J,Sinclair M,Osborne S,Li T,Kerwin R,St Clair D,Collier DA

更新日期：2006-12-01 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：: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