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- Williams, N M, et al.
(författare)
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A systematic genomewide linkage study in 353 sib pairs with schizophrenia.
- 2003
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 73:6, s. 1355-1367
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Tidskriftsartikel (refereegranskat)abstract
- We undertook a genomewide linkage study in a total of 353 affected sib pairs (ASPs) with schizophrenia. Our sample consisted of 179 ASPs from the United Kingdom, 134 from Sweden, and 40 from the United States. We typed 372 microsatellite markers at approximately 10-cM intervals. Our strongest finding was a LOD score of 3.87 on chromosome 10q25.3-q26.3, with positive results being contributed by all three samples and a LOD-1 interval of 15 cM. This finding achieved genomewide significance (P<.05), on the basis of simulation studies. We also found two regions, 17p11.2-q25.1 (maximum LOD score [MLS] = 3.35) and 22q11 (MLS = 2.29), in which the evidence for linkage was highly suggestive. Linkage to all of these regions has been supported by other studies. Moreover, we found strong evidence for linkage (genomewide P<.02) to 17p11.2-q25.1 in a single pedigree with schizophrenia. In our view, the evidence is now sufficiently compelling to undertake detailed mapping studies of these three regions.
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- Jonsson, E, et al.
(författare)
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Schizophrenia and neurotrophin-3 alleles
- 1997
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Ingår i: Acta psychiatrica Scandinavica. - : Wiley. - 0001-690X .- 1600-0447. ; 95:5, s. 414-419
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Tidskriftsartikel (refereegranskat)
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| 40. |
- Jönsson, E G, et al.
(författare)
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Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: Association study and meta-analysis
- 2003
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Ingår i: American Journal of Medical Genetics. - : Wiley. - 0148-7299 .- 1096-8628. ; 119B:1, s. 28-34
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Tidskriftsartikel (refereegranskat)abstract
- An association has been reported between a dopamine D(2) receptor gene (DRD2) Ser311Cys variant and schizophrenia. In a replication attempt, Swedish patients with schizophrenia (n = 173) and control subjects (n = 236) were assessed for the DRD2 Ser311Cys variant. Schizophrenic patients displayed higher Cys311 allele frequencies than control subjects (4.0 vs. 0.8%, chi(2) = 9.49, df = 1, P = 0.002; odds ratio (OR) 4.93, 95% confidence interval (95% CI) 1.61-15.12). The association was detected only in men. The results were supported by a meta-analysis of all published case-control studies comprising a total of 9,152 subjects (chi(2) = 11.37, df = 1, P < 0.001; OR 1.43, 95% CI 1.16-1.78). The present results support the involvement of the DRD2 gene in the pathogenesis of schizophrenia. Copyright 2003 Wiley-Liss, Inc.
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| 41. |
- Jönsson, Erik G, et al.
(författare)
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Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.
- 2004
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Ingår i: BMC psychiatry. - 1471-244X. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Concentrations of monoamine metabolites in human cerebrospinal fluid (CSF) have been used extensively as indirect estimates of monoamine turnover in the brain. CSF monoamine metabolite concentrations are partly determined by genetic influences. METHODS: We investigated possible relationships between DNA polymorphisms in the serotonin 2C receptor (HTR2C), the serotonin 3A receptor (HTR3A), the dopamine D4 receptor (DRD4), and the dopamine beta-hydroxylase (DBH) genes and CSF concentrations of 5-hydroxyindolacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) in healthy volunteers (n = 90). RESULTS: The HTR3A 178 C/T variant was associated with 5-HIAA levels (p = 0.02). The DBH-1021 heterozygote genotype was associated with 5-HIAA (p = 0.0005) and HVA (p = 0.009) concentrations. Neither the HTR2C Cys23Ser variant, nor the DRD4 -521 C/T variant were significantly associated with any of the monoamine metabolites. CONCLUSIONS: The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.
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- Kisiel, Marta A., 1984-, et al.
(författare)
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Inflammatory bowel disease and asthma. Results from the RHINE study
- 2023
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Ingår i: Respiratory Medicine. - : Elsevier. - 0954-6111 .- 1532-3064. ; 216
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Tidskriftsartikel (refereegranskat)abstract
- Background: Asthma and inflammatory bowel disease (IBD) are common inflammatory diseases. The aim of this study was to investigate the associations of IBD with asthma and respiratory symptoms. Methods: This study is based on 13,499 participants from seven northern European countries that filled in a postal questionnaire on asthma, respiratory symptoms, IBD including ulcerative colitis and Crohn's disease and various lifestyle variables. Results: There were 195 participants with IBD. The prevalence of asthma (14.5 vs 8.1%, p = 0.001), different respiratory symptoms (range 11.9-36.8% vs range 6.0-18.6%, p < 0.005), non-infectious rhinitis (52.1 vs. 41.6%, p = 0.004) and chronic rhinosinusitis (11.6 vs 6.0%, p = 0.001) were higher in subjects with IBD than in those without IBD. In multivariable regression analysis, the association between IBD and asthma was statistically significant (OR 1.95 (95% CI 1.28-2.96)) after adjusting for confounders such as sex, BMI, smoking history, educational level and physical activity. There was a significant association between asthma and ulcerative colitis (adjusted OR 2.02 (95% CI 1.27-2.19)), and asthma but not Crohn's disease (adjusted OR 1.66 (95% CI 0.69-3.95)). A significant gender interaction was found with a significant association between IBD and asthma in women but not in men ((OR 2.72 (95% CI 1.67-4.46) vs OR 0.87 (95% CI 0.35-2.19), p = 0.038). Conclusions: Patients with IBD, particularly those with ulcerative colitis and female, have a higher prevalence of asthma and respiratory symptoms. Our findings indicate that it is important to consider respiratory symptoms and disorders when examining patients with manifest or suspected IBD.
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| 47. |
- Vares, M, et al.
(författare)
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Characterization of patients with schizophrenia and related psychoses: evaluation of different diagnostic procedures
- 2006
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Ingår i: Psychopathology. - : S. Karger AG. - 0254-4962 .- 1423-033X. ; 39:6, s. 286-295
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Tidskriftsartikel (refereegranskat)abstract
- <i>Background:</i> We aimed at estimating the value of structured interviews, medical records and clinical diagnoses for assessing lifetime diagnosis of patients with schizophrenia. In addition, the validity of the Operational Criteria Checklist (OPCRIT) system was analysed. <i>Sampling and Methods:</i> Swedish patients (n = 73), diagnosed with schizophrenia and related disorders by their treating physician, were scrutinized. Independent research diagnoses according to the Diagnostic and Statistical Manual, ed. 3, revised (DSM-III-R) were obtained by (1) a structured interview; (2) the OPCRIT algorithm, based on record analysis only; (3) the OPCRIT algorithm, based on record and interview analysis, or (4) a separate traditional research diagnosis based on both record and interview analysis. In addition, clinical International Classification of Diseases (ICD) diagnoses, given by the treating physician, were obtained from the case notes. Concordance rates for the different psychosis diagnoses were calculated. <i>Results:</i> Diagnoses based on interviews only showed poor to fair agreement with the other research diagnoses, but patients diagnosed with schizophrenia or schizophrenic psychoses (i.e. schizophrenia, schizophreniform or schizoaffective disorder) at the interview almost always also obtained a corresponding research diagnosis based on record or combined sources. Diagnoses based on records only showed a good to excellent agreement with diagnoses based on records and interviews. Clinical ICD diagnoses generally displayed poor agreement with the research diagnoses, but 94% of patients ever given a clinical ICD diagnosis of schizophrenic psychosis received a corresponding traditional research diagnosis. OPCRIT diagnoses and independently assigned research diagnoses, based on the same information, displayed excellent concordance. <i>Conclusions:</i> Structured interviews performed with Swedish long-term-treated psychosis patients during non-hospitalization are a poor source for the evaluation of psychosis diagnoses, but a good screening instrument for the detection of DSM-III-R schizophrenia. In the investigated population, medical records are a valuable source for diagnostic assessment of psychoses and may serve as a stand-alone procedure in this patient category. Swedish clinical ICD diagnoses have a high positive predictive power identifying DSM-III-R diagnoses of schizophrenic psychoses, indicating validity of register-based research focusing on these diagnoses. The OPCRIT system is a valid tool for assessing DSM-III-R psychosis diagnoses. It should be emphasized that the present conclusions are based on the investigated Swedish psychosis population and cannot be generalized to populations composed of other patient groups or sampled in other settings, with other traditions regarding the use and availability of medical records.
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