ALINE SANTOS SAMPAIO
Projetos de Pesquisa
Unidades Organizacionais
LIM/21 - Laboratório de Neuroimagem em Psiquiatria, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject Association between MAO-A and Obsessive-Compulsive Disorder related phenotypes(2013) SAMPAIO, A. S.; HOUNIE, A. G.; PETRIBU, K.; CAPPI, C.; MORAIS, I. A.; QUARANTINI, L. C.; FILHO, H. P. V.; ROSARIO, M. da Conceicao do; STEWART, S. E.; FARGENESS, J.; MATTHEWS, C.; ARNOLD, P.; RICHTER, M.; KENNEDY, J.; HANNA, G. L.; PAULS, D. L.; MIGUEL FILHO, E. C.- Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder(2012) CAPPI, Carolina; MUNIZ, Renan Kawano; SAMPAIO, Aline Santos; CORDEIRO, Quirino; BRENTANI, Helena; PALACIOS, Selma A.; MARQUES, Andrea H.; VALLADA, Homero; MIGUEL, Euripedes Constantino; GUILHERME, Luiza; HOUNIE, Ana GabrielaObsessive-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 (R) software. We found that the A allele of the TNFA rs361525 polymorphism was significantly associated with OCD subjects, according to the allelic x association test (p=0.007). The presence of genetic markers, such as inflammatory cytokines genes linked to OCD, may represent additional evidence supporting the rote of the immune system in its pathogenesis.
article 8 Citação(ões) na Scopus The role of the VNTR functional polymorphism of the promoter region of the MAOA gene on psychiatric disorders(2011) NISHIOKA, Silvia A.; PERIN, Eduardo Aliende; SAMPAIO, Aline Santos; CORDEIRO, Quirino; CAPPI, Carolina; MASTROROSA, Rosana Savio; MORAIS, Ivanil A.; REIS, Viviane Neri de Souza; ROSARIO, Maria Conceicao do; HOUNIE, Ana GabrielaIntroduction: A functional variable number of tandem repeats (VNTR) polymorphism of the promoter region of the monoamine oxidase A (MAOA) gene has been described and many studies have investigated the association of this polymorphism with human behaviors, as well as with several psychiatric disorders. Objective: This study aimed to review the literature on the role of the VNTR functional polymorphism of the promoter region of the MAOA gene on the modulation of human behavior for the development of psychiatric disorders. Method: Searches on the Medline, Embase, Web of Science and PsycInfo databases were performed including works from January 1998 to June 2009. The words used were: ""MAOA and human behavior"" and ""MAOA and psychiatry"". Results: Several studies were found (N = 3,873). After the selection process, 109 papers were included in the review. There was found an association of MAOA low activity alleles with antisocial personality disorder, conduct disorder, ADHD, pathological gambling, and substance abuse. High activity alleles were associated with neuroticism, anorexia nervosa and depression and anxiety disorders. There was no association between the MAOA polymorphisms and bipolar disorder and schizophrenia. Discussion: The main findings, summarized in this paper, support a role of MAOA VNTR polymorphism in some psychiatric disorders although some divergences were found due to methodological difficulties in genetic studies. In general, the studies associated the low activity alleles with impulsivity and aggressive behavior (""hyperactive behaviors""), and the high activity alleles of the gene with ""hypoactive behaviors"", such as depression and anxiety, which demonstrates a modulation of the MAOA enzyme in ""hyperactive"" and ""hypoactive"" disorders.- Comorbid major depression in obsessive-compulsive disorder patients(2011) QUARANTINI, Lucas C.; TORRES, Albina Rodrigues; SAMPAIO, Aline S.; FOSSALUZA, Victor; MATHIS, Maria Alice de; ROSARIO, Maria Conceicao do; FONTENELLE, Leonardo F.; FERRAO, Ygor A.; CORDIOLI, Aristides Volpato; PETRIBU, Katia; HOUNIE, Ana G.; MIGUEL, Euripedes C.; SHAVITT, Roseli G.; KOENEN, Karestan C.Although major depressive disorder (MDD) has been consistently considered the most frequent complication of obsessive-compulsive disorder (OCD), little is known about the clinical characteristics of patients with both disorders. This study assessed 815 Brazilian OCD patients using a comprehensive psychiatric evaluation. Clinical and demographic variables, including OCD symptom dimensions, were compared among OCD patients with and without MDD. Our findings showed that prevalence rates of current MDD (32%) and lifetime MDD (67.5%) were similar for both sexes in this study. In addition, patients with comorbid MDD had higher severity scores of OCD symptoms. There was no preferential association of MDD with any particular OCD symptom dimension. This study supports the notion that depressed OCD patients present more severe general psychopathology.
- COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study(2015) SAMPAIO, Aline Santos; HOUNIE, Ana Gabriela; PETRIBU, Katia; CAPPI, Carolina; MORAIS, Ivanil; VALLADA, Homero; ROSARIO, Maria Conceicao do; STEWART, S. Evelyn; FARGENESS, Jesen; MATHEWS, Carol; ARNOLD, Paul; HANNA, Gregory L.; RICHTER, Margaret; KENNEDY, James; FONTENELLE, Leonardo; PEREIRA, Carlos Alberto de Braganca; PAULS, David L.; MIGUEL, Euripedes ConstantinoObjective Obsessive-compulsive disorder (OCD) is a common and debilitating psychiatric illness. Although a genetic component contributes to its etiology, no single gene or mechanism has been identified to the OCD susceptibility. The catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAO-A) genes have been investigated in previous OCD studies, but the results are still unclear. More recently, Taylor (2013) in a comprehensive meta-analysis of genetic association studies has identified COMT and MAO-A polymorphisms involved with OCD. In an effort to clarify the role of these two genes in OCD vulnerability, a family-based association investigation was performed as an alternative strategy to the classical case-control design. Methods Transmission disequilibrium analyses were performed after genotyping 13 single-nucleotide polymorphisms (eight in COMT and five in MAO-A) in 783 OCD trios (probands and their parents). Four different OCD phenotypes (from narrow to broad OCD definitions) and a SNP x SNP epistasis were also analyzed. Results OCD, broad and narrow phenotypes, were not associated with any of the investigated COMT and MAO-A polymorphisms. In addition, the analyses of gene-gene interaction did not show significant epistatic influences on phenotype between COMT and MAO-A. Conclusions The findings do not support an association between DSM-IV OCD and the variants of COMT or MAO-A. However, results from this study cannot exclude the contribution of these genes in the manifestation of OCD. The evaluation of broader spectrum phenotypes could help to understand the role of these and other genes in the pathophysiology of OCD and its spectrum disorders.
- Association Between Polymorphisms in GRIK2 Gene and Obsessive-Compulsive Disorder: A Family-Based Study(2011) SAMPAIO, Aline S.; FAGERNESS, Jesen; CRANE, Jacquelyn; LEBOYER, Marion; DELORME, Richard; PAULS, David L.; STEWART, S. EvelynSeveral studies support a genetic influence on obsessive-compulsive disorder (OCD) etiology. The role of glutamate as an important neurotransmitter affecting OCD pathophysiology has been supported by neuroimaging, animal model, medication, and initial candidate gene studies. Genes involved in glutamatergic pathways, such as the glutamate receptor, ionotropic, kainate 2 (GRIK2), have been associated with OCD in previous studies. This study examines GRIK2 as a candidate gene for OCD susceptibility in a family-based approach. Probands had full DSM-IV diagnostic criteria for OCD. Forty-seven OCD probands and their parents were recruited from tertiary care OCD specialty clinics from France and USA. Genotypes of single nucleotide polymorphism (SNP) markers and related haplotypes were analyzed using Haploview and FBAT software. The polymorphism at rs1556995 (P = 0.0027; permuted P-value = 0.03) was significantly associated with the presence of OCD. Also, the two marker haplotype rs1556995/rs1417182, was significantly associated with OCD (P = 0.0019, permuted P-value = 0.01). This study supports previously reported findings of association between proximal GRIK2 SNPs and OCD in a comprehensive evaluation of the gene. Further study with independent samples and larger sample sizes is required.
- Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD(2015) YU, Dongmei; MATHEWS, Carol A.; SCHARF, Jeremiah M.; NEALE, Benjamin M.; DAVIS, Lea K.; GAMAZON, Eric R.; DERKS, Eske M.; EVANS, Patrick; EDLUND, Christopher K.; CRANE, Jacquelyn; OSIECKI, Lisa; RENNER, Tobias; REUS, Victor I.; RICHTER, Margaret A.; RIDDLE, Mark A.; ROBERTSON, Mary M.; ROMERO, Roxana; ROSARIO, Maria C.; ROSENBERG, David; RUHRMANN, Stephan; SABATTI, Chiara; GALLAGHER, Patience; SALVI, Erika; SAMPAIO, Aline S.; SAMUELS, Jack; SANDOR, Paul; SERVICE, Susan K.; SHEPPARD, Brooke; SINGER, Harvey S.; SMIT, Jan H.; STEIN, Dan J.; STRENGMAN, Eric; GERBER, Gloria; TISCHFIELD, Jay A.; TURIEL, Maurizio; DUARTE, Ana V. Valencia; VALLADA, Homero; VEENSTRA-VANDERWEELE, Jeremy; WALITZA, Susanne; WANG, Ying; WEALE, Mike; WEISS, Robert; WENDLAND, Jens R.; HADDAD, Stephen; WESTENBERG, Herman G. M.; SHUGART, Yin Yao; HOUNIE, Ana G.; MIGUEL, Euripedes C.; NICOLINI, Humberto; WAGNER, Michael; RUIZ-LINARES, Andres; CATH, Danielle C.; MCMAHON, William; POSTHUMA, Danielle; ILLMANN, Cornelia; OOSTRA, Ben A.; NESTADT, Gerald; ROUTEAU, Guy A.; PURCELL, Shaun; JENIKE, Michael A.; HEUTINK, Peter; HANNA, Gregory L.; CONTI, David V.; ARNOLD, Paul D.; FREIMER, Nelson B.; MCGRATH, Lauren M.; STEWART, Evelyn; KNOWLES, James A.; COX, Nancy J.; PAULS, David L.; MAYERFELD, Catherine; AREPALLI, Sampath; BARLASSINA, Cristina; BARR, Cathy L.; BELLODI, Laura; BENARROCH, Fortu; BERRIO, Gabriel Bedoya; BIENVENU, O. Joseph; BLACK, Donald W.; BLOCH, Michael H.; BRENTANI, Helena; BRUUN, Ruth D.; BUDMAN, Cathy L.; CAMARENA, Beatriz; CAMPBELL, Desmond D.; CAPPI, Carolina; SILGADO, Julio C. Cardona; CAVALLINI, Maria C.; CHAVIRA, Denise A.; CHOUINARD, Sylvain; COOK, Edwin H.; COOKSON, M. R.; CORIC, Vladimir; CULLEN, Bernadette; CUSI, Daniete; DELORME, Richard; DENYS, Damiaan; DION, Yves; EAPEN, Valsama; EGBERTS, Karin; FALKAI, Peter; FERNANDEZ, Thomas; FOURNIER, Eduardo; GARRIDO, Helena; GELLER, Daniel; GILBERT, Donald L.; GIRARD, Simon L.; GRABE, Hans J.; GRADOS, Marco A.; GREENBERG, Benjamin D.; GROSS-TSUR, Varda; GRUENBLATT, Edna; HARDY, John; HEIMAN, Gary A.; HEMMINGS, Sian M. J.; HERRERA, Luis D.; HEZEL, Dianne M.; HOEKSTRA, Pieter J.; JANKOVIC, Joseph; KENNEDY, James L.; KING, Robert A.; KONKASHBAEV, Anuar I.; KREMEYER, Barbara; KURLAN, Roger; LANZAGORTA, Nuria; LEBOYER, Marion; LECKMAN, James F.; LENNERTZ, Leonhard; LIU, Chunyu; LOCHNER, Christine; LOWE, Thomas L.; LUPOLI, Sara; MACCIARDI, Fabio; MAIER, Wolfgang; MANUNTA, Paolo; MARCONI, Maurizio; MCCRACKEN, James T.; RESTREPO, Sandra C. Mesa; MOESSNER, Rainald; MOORJANI, Priya; MORGAN, Jubel; MULLER, Heike; MURPHY, Dennis L.; NAARDEN, Allan L.; NURMI, Erika; OCHOA, William Cornejo; OPHOFF, Roel A.; PAKSTIS, Andrew J.; PATO, Michele T.; PATO, Carlo N.; PIACENTINI, John; PITTENGER, Christopher; POLLAK, Yehuda; RAUCH, Scott L.Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD. Method: The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders. Results: Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders Polygenic score analyses identified a significant polygenic component for OCD (p=2x10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01). Conclusions: Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring burette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.
- Estudos de associação genética no transtorno obsessivo-compulsivo(2013) SAMPAIO, Aline Santos; LINS, Rita Marcia Pacheco; DALTRO-OLIVEIRA, Renato; QUARANTINI, Lucas de Castro; ROSARIO, Maria Conceicao do; MIGUEL, Euripedes Constantino; HOUNIE, Ana GabrielaBackground: Obsessive-compulsive disorder (OCD) segregates in families. It follows a complex model of genetic transmission, which involves the influence of several small effect genes interacting with the environment. Methods: A systematic review of genetic association studies in OCD was performed. Articles published until 2012 were searched in the databases PubMed, Embase and SciELO using the terms of MeSH and its associates or synonyms for ""obsessive-compulsive disorder"", ""gene"" and ""genetic association studies"". Results: We selected 105 papers and described their main results grouped as genes related to: serotonin, dopamine, glutamate, GABA, white matter, immune system, hormones and other genes. Conclusion: There is high variability between findings of association studies among the several candidate genes studied in OCD. Glutamate-related genes are promising candidates for OCD, but there is no conclusive association between any of the candidate genes studied and OCD. Association studies with large sample size, evaluation of more homogeneous subgroups of phenotype and meta-analyses are still needed.