1,720,988 research outputs found
No association between obsessive-compulsive disorder and the 5-HT1D beta receptor gene
No full textObjective: Serotonin abnormalities may be involved in the etiopathogenesis of obsessive-compulsive disorder (OCD). The silent G-to-C substitution at nucleoticle 861 of the coding region of the 5-HT1Dbeta receptor gene may be associated with liability to OCD. The aim of this study was to investigate this association in an Italian OCD study group. Method: Genotyping for 5-HT1Dbeta was performed for 79 nuclear families of probands with OCD. The transmission/disequilibrium test was used to determine transmission of the alleles from parents to offspring. Results: Of the 79 families, 48 were informative for the analysis, i.e., both parents were genotyped for 5-HT1Dbeta, and at least one parent was heterozygous. No preferential transmission of either allele of the 5-HT1Dbeta gene was observed. Conclusions: These data do not support a role for the 5-HT1Dbeta receptor gene in conferring susceptibility to OCD. Z8 0 ZR 0 ZS 2 ZB 2
The structure of DSM-III-R schizotypal personality disorder diagnosed by direct interviews. Schizophrenia Bulletin, 23 (1) 83-92, 1997
No full textComplex segregation analysis for obsessive compulsive disorder and related disorders
No full textComplex segregation analysis was applied to a sample of 107 Italian families with probands with obsessive compulsive disorder (OCD), using regressive logistic models to test for possible models of genetic transmission, We used two different phenotypic definitions of affection: 1) OCD; and 2) OCD plus Tourette's syndrome/chronic motor ties (CMT), Because of the potential relationship between OCD, Tourette's syndrome (TS), and other tic disorders, we considered these diagnoses to be determined by the same liability in subsequent steps of the analysis. For the 107 OCD families, the best fit was a dominant model of transmission (with a higher penetrance for females). When the phenotype boundaries were widened (OCD + CMT + TS), an unrestricted model of transmission became the best fit. We concluded that additional data are needed to support the hypothesis that Tourette's syndrome and OCD share a common etiology: on the basis of clinical and epidemiological considerations, the OCD phenotype probably presents a higher level of heterogeneity than the TS phenotype, and it could be regulated through different etiologic pathways. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:38-43, 1999. (C) 1999 Wiley-Liss, Inc. Z8 0 ZR 0 ZS 4 ZB 4
Anticipation of age at onset of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder
No full textAnticipation of age at onset has been observed in several neuropsychiatric disorders. Recent studies have associated anticipation with the presence of unstable DNA and have suggested that trinucleotide repeats may be the main cause in some of these diseases. However, several selection biases may mimic the presence of such an effect. In this study we evaluated the presence of this effect in 40 families of probands with obsessive-compulsive disorder (OCD) compared with affected subjects in the parental generation. We controlled for ascertainment biases by taking into account the age at interview of probands. Using a different recruitment strategy, we controlled for anticipation in a sub-sample of offspring of 13 OCD patients, affected with OC spectrum disorders. While the younger generation showed a significantly earlier age at onset than the parental generation, no effect of age at interview was observed. Drawing on the results, we hypothesised that the presence of anticipation in OCD and OC spectrum disorders could be due to a specific genetic effect (unstable DNA), as it has been hypothesised for other disorders showing this effect. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved. ZR 0 ZS 0 Z8 2 ZB
Complex segregation analysis of obsessive-compulsive disorder in 141 families of eating disorder probands, with and without obsessive-compulsive disorder
No full textProbands affected with eating disorders (ED) present a higher number of relatives affected with obsessive-compulsive disorders/tic disorders than a comparison population. Therefore, we hypothesized that ED and obsessive-compulsive disorder (OCD) might share the same biological liability, and that a single major gene might account for that liability. We tested this hypothesis by applying a complex segregation analysis to 141 families of probands affected with ED (89 with anorexia nervosa, restricting and binge-eating types, 52 with bulimia nervosa). Given the hypothesized relationship between OCD and genetic spectrum disorders, we considered these diagnoses as affected phenotype in relatives. In Italian ED families, ED and OCD followed a Mendelian dominant model of transmission. When probands were divided according to co-diagnosis of OCD, best fit in the subgroup of families of 114 probands without OCD co-diagnosis was for a Mendelian dominant model of transmission whereas a Mendelian additive model of transmission represented best fit in the subgroup of families of 27 probands with an OCD co-diagnosis. Genetic transmission was not shown in those families where the only affected phenotype was ED. The existence of a Mendelian mode of genetic transmission within ED families supports the hypothesis that a common genetic liability could account for both ED and OCD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:384-391, 2000, (C) 2000 Wiley-Liss, Inc. Z8 0 ZR 0 ZS 1 ZB 2
A segregation study of panic disorder in families of panic patients responsive to the 35% CO2 challenge
No full textBackground: A genetic component has a role in the etiology of Panic Disorder (PD) and a familial association between PD and CO2 hypersensitivity have been repeatedly described. Methods: Complex segregation analysis was performed on a sample of 165 families of PD probands and on the subgroup homogeneous for CO2 hypersensitivity, using Regressive Logistic Models. The only relatives considered to be affected were those with PD. Relatives have been diagnosed according to Family History Method. Results: A Mendelian hypothesis was compatible with our data, without distinction between different models of transmission. The Akaike's Information Criterion values indicated that the Additive model was the most parsimonious, with a gene frequency of .0005, incomplete penetrance and a phenocopy rate of .00029. By subdividing the families according to the probands' responses to CO2 inhalations, probands of 134 families were hypersensitive to CO2. The analysis performed on this subgroup supported the existence of a SML with a best fit for a Dominant model. Conclusions: A SML account for genetic transmission in PD families and 35% CO2 challenge test may individuate a genetically homogeneous subgroup of patients with PD. (C) 1999 Society of Biological Psychiatry
A segregation study for panic disorder families in which probands are responsive to 35% CO2 challenge test.
No full textAn association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome
No full textSeveral lines of evidence suggest that a genetic component underlies Tourette's syndrome (TS). We investigated both the role of the insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) and that of the Val-158-Met substitution in the catechol-O-methyl-transferase (COMT) gene in conferring susceptibility to TS. Fifty-two TS patients were recruited and compared with a control group of 63 healthy subjects. Neither a genotypic nor an allelic association was found; subdividing TS patients according to clinical variables, such as a co-diagnosis of obsessive-compulsive disorder (OCD) and a positive family history for obsessive compulsive disorder or ties, also failed to reveal a significant association. The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved. ZR 0 ZS 0 Z8 2 ZB 2
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