Navegando por Palavras-chave "association study"

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    AKT1 and neurocognition in schizophrenia
    (Informa Healthcare-taylor & Francis, 2007-02-01) Pinheiro, Andrea Poyastro [UNIFESP]; Keefe, Richard S. E.; Skelly, Tara; Olarte, Megan; Leviel, Keren; Lange, Leslie A.; Lange, Ethan M.; Stroup, T. Scott; Lieberman, Jeffrey; Sullivan, Patrick F.; Karolinska Inst; Univ N Carolina; Universidade Federal de São Paulo (UNIFESP); Duke Univ; Columbia Univ
    Objective: Previous research has shown conflicting results for the significance of five v-akt murine thymoma viral oncogene homolog 1 (AKT1) single-nucleotide polymorphisms (SNPs) to the aetiology of schizophrenia. Neurocognition is a plausible enclophenotype for schizophrenia and it was reasoned that the lack of agreement might be due to variability in neurocognition across studies. Therefore, the association of genetic variation in AKT1 with neurocognition was investigated in patients with schizophrenia.Methods: The same five SNPs used in previous studies of the etiology of schizophrenia (rs2494732, rs2498799, rs3730358, rs1130241, and rs3803300) were genotyped in 641 individuals with schizophrenia who had participated in the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) project. The primary dependent variable was a neurocognitive composite score and exploratory analyses investigated five domain scores (processing speed, reasoning, verbal memory, working memory, and vigilance).Results: There were no significant asymptotic or empirical associations between any SNP and the neurocognitive composite score. The authors also investigated the association of five-SNP haplotypes with the neurocognitive composite score. A marginally significant association was observed for the neurocognitive composite score with one of the five-SNP haplotypes (global score statistic 19.51, df =9, permutation p =0.02). Exploratory analyses of five domain scores (processing speed, reasoning, verbal memory, working memory, and vigilance) were non-significant for all five SNPs.Conclusion: Results published to date for an association between genetic variation in AKT1 with schizophrenia are inconsistent. The results suggest that the AKT1 markers studied are not associated with neurocognition in schizophrenia, and do not support unassessed variation in neurocognitive scores as a reason for this discrepancy.
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    The Ala45Thr polymorphism of NEUROD1 is associated with type 1 diabetes in Brazilian women
    (Masson Editeur, 2005-12-01) Oliveira, CSV; Hauache, O. M.; Vieira, JGH; Maciel, RMB; Sjoroos, M.; Canani, L. H.; Velho, G.; Gross, J. L.; Reis, A. F.; Universidade Federal de São Paulo (UNIFESP); Fleury Inst; Wallac Oy; Hosp Clin Porto Alegre; Univ Fed Rio Grande Sul; INSERM
    Background: NEUROD1 encodes a transcription factor expressed in the endocrine pancreas, and involved in beta-cell development, function and mechanisms of apoptosis. in this study, we investigated the association of a frequent polymorphism in exon 2 of NEUROD1 (G > A; Ala45Thr) with Type 1 diabetes in Brazilian subjects.Methods: A population/association study comprising 246 unrelated Type 1 diabetic and 275 nondiabetic white Brazilian subjects. the Ala45Thr variant was genotyped by a PCR-RFLP method.Results: the frequency of the Thr allele was significantly higher in patients with Type 1 diabetes than in controls (42.3% vs 35.3%, P = 0.02). Stratification by gender showed that homozygosity for the Thr allele was associated with Type 1 diabetes in women with odds ratio of 3.66 (95 % C.I. 1.43-10.11, P = 0.009) as compared to homozygosity for the Ala allele. This effect was not observed in men.Conclusions: We found a gender-specific association of the Ala45Thr variant of NEUROD1 with Type 1 diabetes in Brazilian women. Our results suggest that gender as well as ethnicity might modulate the association of NEUROD1 with Type 1 diabetes.
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    Angiotensinogen and angiotensin converting enzyme gene polymorphisms and the risk of bipolar affective disorder in humans
    (Elsevier B.V., 2000-10-27) Meira-Lima, IV; Pereira, A. C.; Mota, GFA; Krieger, J. E.; Vallada, H.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
    A possible participation of the renin-angiotensin system (RAS) components with mood disturbances has been suggested in both animal and pharmacological models. in this cross-sectional study, we examined the association between functional polymorphisms in the angiotensin converting enzyme (ACE) and angiotensinogen (AGI) genes in 115 bipolar affective disorder (BPAD) patients and 323 healthy control subjects. the ACE I/D variant did not show any difference in allelic frequencies and genotypic distribution between the groups. in contrast, when studying the AGT M235T polymorphism we found that the M allele was more frequently observed in BPAD patients than in controls (chi (2) = 6.766, d.f. = 1, P = 0.009). Using multivariate logistic models the strongest odds ratio resulted from a dominant genetic model (OR = 3.0; CI (95%) 1.7-5.3] Our data suggest an association between the AGT M235 genotype and increased susceptibility for BPAD in these Brazilian patients. These findings are consistent with the hypothesis that the RAS system plays a role in regulating the mood (C) 2000 Published by Elsevier Science Ireland Ltd.
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    Werner helicase polymorphism is not associated with Alzheimer's disease
    (Ios Press, 2004-12-01) Payão, Spencer Luiz Marques [UNIFESP]; Labio, Roger Willian de; Gatti, Luciano Lobo [UNIFESP]; Rigolin, Valdeci Oliveira Santos [UNIFESP]; Bertolucci, Paulo Henrique Ferreira [UNIFESP]; Smith, Marilia de Arruda Cardoso [UNIFESP]; Fac Med Marilia; Universidade Federal de São Paulo (UNIFESP)
    Alzheimer disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. We observed that the genotype distributions of WRN 1367 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects (P > 0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.