A review of psychiatric genetics research in the Brazilian population

Cordeiro, Quirino; Souza, Bruno R.; Corrêa, Humberto; Guindalini, Camila; Hutz, Mara H.; Vallada, Homero; Romano-Silva, Marco Aurélio

doi:10.1590/s1516-44462009000200013

Cited by 20 publications

(15 citation statements)

References 87 publications

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“…Another possible confounding factor could be population stratification, especially when the studied sample has a highly admixed ethnicity, such as in Brazil 21 . In addition, physical characteristics are not adequate predictors of genomic ancestry in the Brazilian population, which therefore render the ethnical matching in casecontrols studies difficult 22 . Phenotype criteria used for the analysis may not reflect a correct division of good and poor responders, due to the arbitrary selection of the threshold or due to the relatively short follow-up period of the drug response results.…”

Section: Discussionmentioning

confidence: 99%

Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment

Miguita

Cordeiro

Shavitt

et al. 2011

Arq. Neuro-Psiquiatr.

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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. Key words: OCD, clomipramine, serotonin receptor, serotonin transporter, dopamine transporter, norepinephrine transporter.Estudo de associação entre polimorfismos genéticos monoaminérgicos e resposta à clomipramina no tratamento do TOC RESUMO No presente estudo, investigaram-se os polimorfismos 5HTTLPR e STin2 da região promotora do gene transportador de serotonina (SLC6A4), o G861C (rs6296) do receptor de serotonina 1D beta (HTR1B), os polimorfismos T102C (rs6113) e C516T (rs6305) do gene do receptor da serotonina subtipo 2A (HTR2A), os polimorfismos UTR, intron 8 e intron 14 do gene transportador de dopamina (SLC6A3), o Val-158-Met (rs4680) da COMT e a mutação G1287A (rs5569) do gene do transportador de norepinefrina (SLC6A2). Foram genotipados 41 pacientes com transtorno obsessivo-compulsivo (TOC), classificados como bons-respondedores (n=27) e maus-respondedores (n=14) ao tratamento com clomipramina, por meio do uso da Escala de Sintomas Obsessivos-Compulsivos Yale Brown (YBOCS). Foram considerados bons-respondedores os pacientes que tiveram redução nos sintomas em 40% ou mais na YBOCS, após 14 semanas de tratamento. A distribuição dos genótipos e alelos estudados foi comparada entre os dois grupos. Não foi encontrada associação entre estes polimorfismos investigados e a resposta à clomipramina na amostra estudada. Palavras-chave: TOC, clomipramina, receptor serotonérgico, transportador de serotonina, transportador de dopamina, transportador de norepinefrina.

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Section: Discussionmentioning

confidence: 99%

Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment

Miguita

Cordeiro

Shavitt

et al. 2011

Arq. Neuro-Psiquiatr.

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“…Population stratification was a concern, particularly in the current study, because the Brazilian population is one of the most heterogeneous and admixed populations in the world, formed mainly by the admixture between European, African, and Native American populations [52,53]. After removal of SNPs through the sequential QC processes and correction by three components of ancestry, we observed genomic inflation factor of 1.11251.…”

Section: Discussionmentioning

confidence: 72%

Copy number variation analysis reveals additional variants contributing to endometriosis development

Mafra

Mazzotti

Pellegrino

et al. 2016

J Assist Reprod Genet

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Purpose Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the development of endometriosis. Methods We performed an SNP-array genotyping of pooled DNA samples from both patients (n = 100) and controls (n = 50). Copy number variation (CNV) calling and association analyses were performed using PennCNV software. MLPA and TaqMan Copy-Number assays were used for validation of CNVs discovered. Results We detected 49 CNV loci that were present in patients with endometriosis and absent in the control group. After validation procedures, we confirmed six CNV loci in the subtelomeric regions, including 1p36. 33, 16p13.3, 19p13.3, and 20p13, representing gains, while 17q25.3 and 20q13.33 showed losses. Among the intrachromosomal regions, our results revealed duplication at 19q13.1 within the FCGBP gene (p = 0.007). Conclusions We identified CNVs previously associated with endometriosis, together with six suggestive novel loci possibly involved in this disease. The intergenic locus on chromosome 19q13.1 shows strong association with endometriosis and is under further functional investigation.

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“…However, in Brazil, physical characteristics such as skin pigmentation, hair colour and texture, shape of the nose and lips, are poor predictors of genomic ancestry 30 . Moreover the fact that the present sample is in Hardy-Weinberg equilibrium may indicate that our sample may not have important problems of population stratification 29 .…”

Section: Pafahmentioning

confidence: 94%

“…We are aware of other methodological weakness in our investigation. Population stratification is the most common reason for conflict results in genetic studies 28,29 . Investigations comparing different ethnical populations have shown significant variations in the allelic frequency.…”

Section: Pafahmentioning

confidence: 99%

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Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease

Cordeiro

Noguti

Bottino

et al. 2010

Arq. Neuro-Psiquiatr.

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Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a genotypic association between the BanI cPLA2 polymorphism and LOAD (c 2 =6.25, 2df, p=0.04), however there was no allelic association. There were no associations between AvrII iPLA2 and Val279Phe PAFAH polymorphisms and LOAD. These data suggest that the BanI cPLA2 polymorphism may play a role in the susceptibility for LOAD in our Brazilian sample. Key words: PLA2, dementia, gene, genetics, LOAD.Associação entre polimorfismos das enzimas fosfolipases A2 e doença de Alzheimer resumo Vários genes têm sido investigados como fatores de risco para o desenvolvimento da doença de Alzheimer (DA) de início tardio. As fosfolipases A2 (PLA2) influenciam o processamento e secreção da proteína precursora do amilóide, que dá origem ao peptídeo meta-amilóide, o principal componente da placa amilóide na DA. Assim, no presente estudo, foram analisados três polimorfismos genéticos que codificam enzimas do grupo das PLA2 (PLA2 citosólica: polimorfismo BanI cPLA2; PLA2 cálcio-independente: polimorfismo AvrII iPLA2; PAFAH: polimorfismo Val279Phe PAFAH) em 58 pacientes com DA de início tardio e 107 controles saudáveis pareados. Houve associação genotípica entre o polimorfismo BanI cPLA2 e DA de início tardio (c 2 =6,25, 2df, p=0,04); no entanto não foi observada associação alélica. Não houve associação entre os polimorfismos AvrII iPLA2 e Val279Phe PAFAH com a doença. Tais dados sugerem que o polimorfismo BanI cPLA2 pode estar envolvido como fator de susceptibilidade para DA de início tardio em nossa amostra brasileira. Palavras-chave: PLA2, demência, gene, genética, Alzheimer de início tardio.

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A review of psychiatric genetics research in the Brazilian population

Cited by 20 publications

References 87 publications

Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment

Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment

Copy number variation analysis reveals additional variants contributing to endometriosis development

Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease

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