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- Cappi, C, et al.
(author)
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Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder
- 2012
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In: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 70:2, s. 87-90
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Journal article (peer-reviewed)abstract
- Obsessive-compulsive disorder (OCD) is a prevalent psychiatric disorder of unknown etiology. However, there is some evidence that the immune system may play an important role in its pathogenesis. In the present study, two polymorphisms (rs1800795 and rs361525) in the promoter region of the cytokine tumor necrosis factor-alpha (TNFA) gene were genotyped in 183 OCD patients and in 249 healthy controls. The statistical tests were performed using the PLINK® software. We found that the A allele of the TNFA rs361525 polymorphism was significantly associated with OCD subjects, according to the allelic χ² association test (p=0.007). The presence of genetic markers, such as inflammatory cytokines genes linked to OCD, may represent additional evidence supporting the role of the immune system in its pathogenesis.
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- Cordeiro, Q, et al.
(author)
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Association between the SLC6A3 A1343G polymorphism and schizophrenia
- 2010
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In: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 68:5, s. 716-719
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Journal article (peer-reviewed)abstract
- Epidemiological studies have demonstrated that the genetic component is an important risk factor for the development of schizophrenia. The genes that codify the different compounds of the dopaminergic system have created interest for molecular investigations in patients with schizophrenia because the antipsychotic drugs, especially those of first generation, act on this cerebral system. Thus the aim of the present study was to investigate the possible association between a new single nucleotide polymorphism (rs6347) located in exon 9 of the protein transporter (SLC6A3) and schizophrenia. The distribution of the alleles and genotypes of the studied polymorphism was investigated in a sample of 235 patients and 834 controls matched by gender and age. There were statistical differences in the allelic (χ2=5.97, 1d.f. , p=0.01, OR=1.33-1.05<OR<1.69) and genotypic (χ2=6.56, 2d.f. , p=0.03) distributions between patients and controls. Thus the SLC6A3 A1343G polymorphism was associated to the SCZ phenotype in the investigated sample.
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| 4. |
- Cordeiro, Q, et al.
(author)
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Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample
- 2012
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In: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 70:12, s. 913-916
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Journal article (peer-reviewed)abstract
- Schizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.
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| 9. |
- da Silva, MA, et al.
(author)
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Lack of association between a 3'UTR VNTR polymorphism of dopamine transporter gene (SLC6A3) and ADHD in a Brazilian sample of adult patients
- 2011
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In: Journal of attention disorders. - : SAGE Publications. - 1557-1246 .- 1087-0547. ; 15:4, s. 305-309
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Journal article (peer-reviewed)abstract
- Objective: To investigate a possible association between a 3’UTR VNTR polymorphism of the dopamine transporter gene (SLC6A3) and ADHD in a Brazilian sample of adult patients. Method: Study Case-control with 102 ADHD adult outpatients ( DSM-IV criteria) and 479 healthy controls. The primers’ sequence used were: 3’UTR-Forward: 5’ TGT GGT GAT GGG AAC GGC CTG AG 3’ and 3’UTR-Reverse: 5’ CTT CCT GGA GGT CAC GGC TCA AGG 3’. Alleles of the 3’UTR were coded according to their number of repeats: 6- repeat 320 bp (allele 6), 8- repeat 400 bp (allele 8), 9- repeat 440 bp (allele 9), 10- repeat 480 bp (allele 10), and 11- repeat 520 bp (allele 11). Results: There were no allelic (χ2 = 2.67, 5df, p = .75) and genotypic (χ2 = 7.20, 1df, p = .61) association between adult ADHD and VNTR 3’UTR polymorphism of SLC6A3. Conclusion: Our findings do not support SLC6A3 as marker genetic susceptibility factor in adult ADHD. More comprehensive polymorphism coverage within the SLC6A3 region should be conducted in larger samples, including comparisons in clinical subgroups, and in samples with different ethnic backgrounds. (J. of Att. Dis. 2011; 15(4) 305-309)
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| 10. |
- Miguita, K, et al.
(author)
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Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment
- 2011
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In: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 69:2B, s. 283-287
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Journal article (peer-reviewed)abstract
- In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We genotyped 41 obsessive-compulsive disorder (OCD) outpatients, classified as good-responders (n=27) and poor-responders (n=14) to treatment with clomipramine according to the Yale Brown Obsessive-Compulsive Scale (YBOCS). Patients who achieved a reduction in symptoms of 40% or more in YBOCS after 14 weeks of treatment were considered good-responders. Genotypes and alleles distribution of the investigated polymorphisms were compared between both groups. We did not find association between the studied polymorphisms and clomipramine response in our sample.
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