ANA GABRIELA HOUNIE
Projetos de Pesquisa
Unidades Organizacionais
LIM/21 - Laboratório de Neuroimagem em Psiquiatria, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
Agora exibindo 1 - 2 de 2
- Genome-wide association study of obsessive-compulsive disorder(2013) STEWART, S. E.; YU, D.; SCHARF, J. M.; NEALE, B. M.; FAGERNESS, J. A.; MATHEWS, C. A.; ARNOLD, P. D.; EVANS, P. D.; GAMAZON, E. R.; OSIECKI, L.; MCGRATH, L.; HADDAD, S.; CRANE, J.; HEZEL, D.; ILLMAN, C.; MAYERFELD, C.; KONKASHBAEV, A.; LIU, C.; PLUZHNIKOV, A.; TIKHOMIROV, A.; EDLUND, C. K.; RAUCH, S. L.; MOESSNER, R.; FALKAI, P.; MAIER, W.; RUHRMANN, S.; GRABE, H-J; LENNERTZ, L.; WAGNER, M.; BELLODI, L.; CAVALLINI, M. C.; RICHTER, M. A.; COOK JR., E. H.; KENNEDY, J. L.; ROSENBERG, D.; STEIN, D. J.; HEMMINGS, S. M. J.; LOCHNER, C.; AZZAM, A.; CHAVIRA, D. A.; FOURNIER, E.; GARRIDO, H.; SHEPPARD, B.; UMANA, P.; MURPHY, D. L.; WENDLAND, J. R.; VEENSTRA-VANDERWEELE, J.; DENYS, D.; BLOM, R.; DEFORCE, D.; NIEUWERBURGH, F. Van; WESTENBERG, H. G. M.; WALITZA, S.; EGBERTS, K.; RENNER, T.; MIGUEL, E. C.; CAPPI, C.; HOUNIE, A. G.; ROSARIO, M. Conceicao do; SAMPAIO, A. S.; VALLADA, H.; NICOLINI, H.; LANZAGORTA, N.; CAMARENA, B.; DELORME, R.; LEBOYER, M.; PATO, C. N.; PATO, M. T.; VOYIAZIAKIS, E.; HEUTINK, P.; CATH, D. C.; POSTHUMA, D.; SMIT, J. H.; SAMUELS, J.; BIENVENU, O. J.; CULLEN, B.; FYER, A. J.; GRADOS, M. A.; GREENBERG, B. D.; MCCRACKEN, J. T.; RIDDLE, M. A.; WANG, Y.; CORIC, V.; LECKMAN, J. F.; BLOCH, M.; PITTENGER, C.; EAPEN, V.; BLACK, D. W.; OPHOFF, R. A.; STRENGMAN, E.; CUSI, D.; TURIEL, M.; FRAU, F.; MACCIARDI, F.; GIBBS, J. R.; COOKSON, M. R.; SINGLETON, A.; HARDY, J.; CRENSHAW, A. T.; PARKIN, M. A.; MIREL, D. B.; CONTI, D. V.; PURCELL, S.; NESTADT, G.; HANNA, G. L.; JENIKE, M. A.; KNOWLES, J. A.; COX, N.; PAULS, D. L.Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the genetic variation predisposing to OCD. A set of individuals affected with DSM-IV OCD, a subset of their parents, and unselected controls, were genotyped with several different Illumina SNP microarrays. After extensive data cleaning, 1465 cases, 5557 ancestry-matched controls and 400 complete trios remained, with a common set of 469 410 autosomal and 9657 X-chromosome single nucleotide polymorphisms (SNPs). Ancestry-stratified case-control association analyses were conducted for three genetically-defined subpopulations and combined in two meta-analyses, with and without the trio-based analysis. In the case-control analysis, the lowest two P-values were located within DLGAP1 (P = 2.49 x 10(-6) and P = 3.44 x 10(-6)), a member of the neuronal postsynaptic density complex. In the trio analysis, rs6131295, near BTBD3, exceeded the genome-wide significance threshold with a P-value = 3.84 x 10(-8). However, when trios were meta-analyzed with the case-control samples, the P-value for this variant was 3.62 x 10(-5), losing genome-wide significance. Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation QTLs (P < 0.001) and frontal lobe expression quantitative trait loci (eQTLs) (P = 0.001) was observed within the top-ranked SNPs (P < 0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.
- Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study(2014) MCGRATH, Lauren M.; YU, Dongmei; MARSHALL, Christian; DAVIS, Lea K.; THIRUVAHINDRAPURAM, Bhooma; LI, Bingbin; CAPPI, Carolina; GERBER, Gloria; WOLF, Aaron; SCHROEDER, Frederick A.; OSIECKI, Lisa; O'DUSHLAINE, Colm; KIRBY, Andrew; ILLMANN, Cornelia; HADDAD, Stephen; GALLAGHER, Patience; FAGERNESS, Jesen A.; BARR, Cathy L.; BELLODI, Laura; BENARROCH, Fortu; BIENVENU, O. Joseph; BLACK, Donald W.; BLOCH, Michael H.; BRUUN, Ruth D.; BUDMAN, Cathy L.; CAMARENA, Beatriz; CATH, Danielle C.; CAVALLINI, Maria C.; CHOUINARD, Sylvain; CORIC, Vladimir; CULLEN, Bernadette; DELORME, Richard; DENYS, Damiaan; DERKS, Eske M.; DION, Yves; ROSARIO, Maria C.; EAPEN, Valsama; EVANS, Patrick; FALKAI, Peter; FERNANDEZ, Thomas V.; GARRIDO, Helena; GELLER, Daniel; GRABE, Hans J.; GRADOS, Marco A.; GREENBERG, Benjamin D.; GROSS-TSUR, Varda; GRUENBLATT, Edna; HEIMAN, Gary A.; HEMMINGS, Sian M. J.; HERRERA, Luis D.; HOUNIE, Ana G.; JANKOVIC, Joseph; KENNEDY, James L.; KING, Robert A.; KURLAN, Roger; LANZAGORTA, Nuria; LEBOYER, Marion; LECKMAN, James F.; LENNERTZ, Leonhard; LOCHNER, Christine; LOWE, Thomas L.; LYON, Gholson J.; MACCIARDI, Fabio; MAIER, Wolfgang; MCCRACKEN, James T.; MCMAHON, William; MURPHY, Dennis L.; NAARDEN, Allan L.; NEALE, Benjamin M.; NURMI, Erika; PAKSTIS, Andrew J.; PATO, Michele T.; PATO, Carlos N.; PIACENTINI, John; PITTENGER, Christopher; POLLAK, Yehuda; REUS, Victor I.; RICHTER, Margaret A.; RIDDLE, Mark; ROBERTSON, Mary M.; ROSENBERG, David; ROULEAU, Guy A.; RUHRMANN, Stephan; SAMPAIO, Aline S.; SAMUELS, Jack; SANDOR, Paul; SHEPPARD, Brooke; SINGER, Harvey S.; SMIT, Jan H.; STEIN, Dan J.; TISCHRIELD, Jay A.; VALLADA, Homero; VEENSTRA-VANDERWEELE, Jeremy; WALITZA, Susanne; WANG, Ying; WENDFAND, Jens R.; SHUGART, Yin Yao; MIGUEL, Euripedes C.; NICOLINI, Humberto; OOSTRA, Ben A.; MOESSNER, Rainald; WAGNER, Michael; RUIZ-LINARES, Andres; HEUTINK, Peter; NESTADT, Gerald; FREIMER, Nelson; PETRYSHEN, Tracey; POSTHUMA, Danielle; JENIKE, Michael A.; COX, Nancy J.; HANNA, Gregory L.; BRENTANI, Helena; SCHERER, Stephen W.; ARNOLD, Paul D.; STEWART, S. Evelyn; MATHEWS, Carol A.; KNOWLES, James A.; COOK, Edwin H.; PAULS, David L.; WANG, Kai; SCHARF, Jeremiah M.Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.