Polymorphisms in the neuronal isoform of tryptophan hydroxylase 2 are associated with bipolar disorder in French Canadian pedigrees.


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 functional associations between this isoform and bipolar disorder and/or major depressive disorder. The aim of this study was to investigate further association of genetic variants in French Canadian samples with bipolar disorders. METHODS:Genetic variants in the tryptophan hydroxylase 2 gene were genotyped in a case-control sample consisting of 225 affected individuals (191 bipolar I and 34 bipolar II) and 221 controls and in a collection of extended pedigrees and trios from the same population 357 nuclear families (201 bipolar I, 64 bipolar II, 79 recurrent major depressive disorder). RESULTS:We determined linkage disequilibrium structure in our isolated population and analyzed six tagged single nucleotide polymorphisms in the case-control sample. Whereas no single, single nucleotide polymorphism gave any significant result, a three single nucleotide polymorphism haplotype gave a global P=0.01. Family-based association showed significant association (P=0.004) of one polymorphism (rs4290270) with the major allele overtransmitted to affected offspring. CONCLUSIONS:Case-control and family-based association studies further support the presence of a susceptibility locus for bipolar disorder in tryptophan hydroxylase 2 by showing statistically significant associations with both, single nucleotide polymorphism alone and haplotype of single nucleotide polymorphism markers.


Psychiatr Genet


Psychiatric genetics


Harvey M,Gagné B,Labbé M,Barden N




Has Abstract


2007-02-01 00:00:00














  • Association of CamK2A genetic variants with transition time from occasional to regular heroin use in a sample of heroin-dependent individuals.

    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


    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

  • Evidence for association of the non-duplicated region of CHRNA7 gene with bipolar disorder but not with Schizophrenia.

    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


    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

  • Associations between APOE polymorphisms and seven diseases with cognitive impairment including Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies in southeast China.

    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


    authors: Chen KL,Sun YM,Zhou Y,Zhao QH,Ding D,Guo QH

    更新日期:2016-06-01 00:00:00

  • Serotonin 2A receptor gene polymorphism and personality traits: no evidence for significant association.

    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 ...

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    pub_type: 杂志文章


    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

  • Effect of genetic polymorphisms on smoking cessation: a trial of bupropion in Korean male smokers.

    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


    authors: Han DH,Joe KH,Na C,Lee YS

    更新日期:2008-02-01 00:00:00

  • Heritabilities of symptoms of posttraumatic stress disorder, anxiety, and depression in earthquake exposed Armenian families.

    abstract:OBJECTIVE:To examine the heritabilities of symptoms of posttraumatic stress disorder (PTSD), anxiety, depression, and the shared genetic component of these symptoms among family members exposed to the 1988 Spitak earthquake in Armenia. METHODS:Two hundred members of 12 multigenerational families exposed to the Spitak ...

    journal_title:Psychiatric genetics

    pub_type: 杂志文章


    authors: Goenjian AK,Noble EP,Walling DP,Goenjian HA,Karayan IS,Ritchie T,Bailey JN

    更新日期:2008-12-01 00:00:00

  • Genome-wide linkage scan of antisocial behavior, depression, and impulsive substance use in the UCSF family alcoholism study.

    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

    pub_type: 杂志文章


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

    更新日期:2012-10-01 00:00:00

  • No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia.

    abstract:OBJECTIVE:Disturbances in catecholamine transmission have been implicated in schizophrenia. Dopamine beta-hydroxylase catalyses the conversion of dopamine to norepinephrine in noradrenergic cells. We attempted to investigate a putative functional promoter polymorphism in the dopamine beta-hydroxylase gene (DBH) for ass...

    journal_title:Psychiatric genetics

    pub_type: 杂志文章


    authors: Jönsson EG,Abou Jamra R,Schumacher J,Flyckt L,Edman G,Forslund K,Mattila-Evenden M,Rylander G,Asberg M,Bjerkenstedt L,Wiesel FA,Propping P,Cichon S,Nöthen MM,Sedvall GC

    更新日期:2003-09-01 00:00:00

  • Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

    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


    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

  • Tumor necrosis factor-alpha gene is not associated with obsessive-compulsive disorder.

    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

    pub_type: 杂志文章


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

    更新日期:2006-02-01 00:00:00

  • Oxytocin receptor gene (OXTR) in relation to loneliness in adolescence: interactions with sex, parental support, and DRD2 and 5-HTTLPR genotypes.

    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


    authors: van Roekel E,Verhagen M,Engels RC,Goossens L,Scholte RH

    更新日期:2013-10-01 00:00:00

  • A case-control association study of the PDLIM5 gene and bipolar disorder in a Sardinian sample.

    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

    pub_type: 杂志文章


    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

  • Gene expression profile analysis of lymphocytes from Alzheimer's patients.

    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

    pub_type: 杂志文章


    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

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    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

    pub_type: 杂志文章


    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

  • Association between the dopamine transporter gene (DAT1) and attention deficit hyperactivity disorder-related traits in healthy adults.

    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


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

    更新日期:2015-06-01 00:00:00

  • Linkage disequilibrium analysis of the dopamine beta-hydroxylase gene in persistent attention deficit hyperactivity disorder.

    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


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

    更新日期:2004-06-01 00:00:00

  • High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome.

    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


    authors: Chandradasa M,Williams S

    更新日期:2018-06-01 00:00:00

  • Linkage analysis in two schizophrenic families originating from a restricted subpopulation of Finland.

    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


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

    更新日期:1994-10-01 00:00:00

  • Meta-analysis reveals no association of the Val66Met polymorphism of brain-derived neurotrophic factor with either schizophrenia or bipolar disorder.

    abstract:BACKGROUND:A long-term controversy exists on whether or not major psychotic disorders can be discretely divided into two groups, for example, schizophrenia and bipolar disorder. Many genes and polymorphisms have been studied for a role in both disorders, including the Val66Met (also known as rs 6265 or G196A) variant o...

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    pub_type: 杂志文章,meta分析


    authors: Kanazawa T,Glatt SJ,Kia-Keating B,Yoneda H,Tsuang MT

    更新日期:2007-06-01 00:00:00

  • Catechol-O-methyltransferase polymorphisms and schizophrenia: a transmission disequilibrium study in multiply affected families.

    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


    authors: Kunugi H,Vallada HP,Sham PC,Hoda F,Arranz MJ,Li T,Nanko S,Murray RM,McGuffin P,Owen M,Gill M,Collier DA

    更新日期:1997-10-01 00:00:00

  • Analysis of new D4 dopamine receptor (DRD4) coding region variants and TH microsatellite in the Old Order Amish family (OOA110).

    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

    pub_type: 杂志文章


    authors: Sidenberg DG,King N,Kennedy JL

    更新日期:1994-07-01 00:00:00

  • Thyroid-stimulating hormone, 5-HTTLPR genotype, and antidepressant response in depressed women.

    abstract::Basal serum thyroid-stimulating hormone (TSH) levels may predict antidepressant efficacy in patients with major depressive episodes (MDE), but data are inconsistent. As the SS genotype of the 5-HTTLPR polymorphism has been associated with a lower antidepressant efficacy in women with MDE, we aimed at assessing the rel...

    journal_title:Psychiatric genetics

    pub_type: 杂志文章


    authors: Gressier F,Trabado S,Verstuyft C,Bouaziz E,Hardy P,Fève B,Becquemont L,Corruble E

    更新日期:2011-10-01 00:00:00

  • A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome.

    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...

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    pub_type: 杂志文章


    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

  • No association between polymorphisms in the serotonin transporter gene and susceptibility to cocaine dependence among African-American individuals.

    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


    authors: Patkar AA,Berrettini WH,Hoehe M,Hill KP,Gottheil E,Thornton CC,Weinstein SP

    更新日期:2002-09-01 00:00:00

  • A contribution to genome-wide association studies: search for susceptibility loci for schizophrenia using DNA microsatellite markers on chromosomes 19, 20, 21 and 22.

    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


    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

  • Quantitation of X-Y homologous genes in patients with schizophrenia by multiplex polymerase chain reaction.

    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

    pub_type: 杂志文章


    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

  • Association analysis of adenosine A1 receptor gene (ADORA1) polymorphisms with schizophrenia in a Japanese population.

    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


    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

  • McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene.

    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

    pub_type: 杂志文章


    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

  • Clinical, cytogenetic, and molecular description of a FRAXE French family.

    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...

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    pub_type: 杂志文章


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

    更新日期:2003-03-01 00:00:00

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    pub_type: 杂志文章


    authors: Dam H,Buch JOD,Nielsen AB,Weikop P,Werge T,Jørgensen MB

    更新日期:2019-12-01 00:00:00