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2. Genome-wide association study of Tourettes syndrome.

Author

Neale, B, Stewart, S, Fagerness, J, Evans, P, Gamazon, E, Edlund, C, Service, S, Tikhomirov, A, Osiecki, L, Illmann, C, Pluzhnikov, A, Konkashbaev, A, Davis, L, Han, B, Crane, J, Scharf, J, Yu, D, Rangel-Lugo, M, Chouinard, S, Dion, Y, Girard, S, Cath, D, Smit, J, King, R, Fernandez, T, Leckman, J, Kidd, K, Kidd, J, Pakstis, A, Herrera, L, Romero, R, Fournier, E, Sandor, P, Barr, C, Phan, N, Gross-Tsur, V, Benarroch, F, Pollak, Y, Budman, C, Bruun, R, Erenberg, G, Naarden, A, Lee, P, Weiss, N, Kremeyer, B, Berrío, G, Campbell, D, Cardona Silgado, J, Ochoa, W, Mesa Restrepo, S, Muller, H, Valencia Duarte, A, Lyon, G, Leppert, M, Morgan, J, Weiss, R, Grados, M, Anderson, K, Davarya, S, Singer, H, Walkup, J, Jankovic, J, Tischfield, J, Heiman, G, Gilbert, D, Hoekstra, P, Robertson, M, Kurlan, R, Liu, C, Gibbs, J, Singleton, A, Hardy, J, Strengman, E, Crenshaw, A, Parkin, M, Wagner, M, Moessner, R, Mirel, D, Posthuma, D, Sabatti, C, Conti, D, Knowles, J, Ruiz-Linares, A, Rouleau, G, Purcell, S, Heutink, P, Oostra, B, McMahon, W, Cox, N, Pauls, D, Reus, Victor, State, Matthew, Eskin, Eleazar, Mathews, Carol, Lowe, Thomas, Freimer, Nelson, Ophoff, Roel, and Moorjani, Priya

Subjects
Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Chromosomes, Human, Pair 9, Female, Fibrillar Collagens, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, International Cooperation, Male, Meta-Analysis as Topic, Obsessive-Compulsive Disorder, Polymorphism, Single Nucleotide, Tourette Syndrome, White People, Young Adult
Abstract

Tourettes syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P

Published
2013

3. Genome-wide association study of Tourette's syndrome.

Author

Scharf, JM, Yu, D, Mathews, CA, Neale, BM, Stewart, SE, Fagerness, JA, Evans, P, Gamazon, E, Edlund, CK, Service, SK, Tikhomirov, A, Osiecki, L, Illmann, C, Pluzhnikov, A, Konkashbaev, A, Davis, LK, Han, B, Crane, J, Moorjani, P, Crenshaw, AT, Parkin, MA, Reus, VI, Lowe, TL, Rangel-Lugo, M, Chouinard, S, Dion, Y, Girard, S, Cath, DC, Smit, JH, King, RA, Fernandez, TV, Leckman, JF, Kidd, KK, Kidd, JR, Pakstis, AJ, State, MW, Herrera, LD, Romero, R, Fournier, E, Sandor, P, Barr, CL, Phan, N, Gross-Tsur, V, Benarroch, F, Pollak, Y, Budman, CL, Bruun, RD, Erenberg, G, Naarden, AL, Lee, PC, Weiss, N, Kremeyer, B, Berrío, GB, Campbell, DD, Cardona Silgado, JC, Ochoa, WC, Mesa Restrepo, SC, Muller, H, Valencia Duarte, AV, Lyon, GJ, Leppert, M, Morgan, J, Weiss, R, Grados, MA, Anderson, K, Davarya, S, Singer, H, Walkup, J, Jankovic, J, Tischfield, JA, Heiman, GA, Gilbert, DL, Hoekstra, PJ, Robertson, MM, Kurlan, R, Liu, C, Gibbs, JR, Singleton, A, North American Brain Expression Consortium, Hardy, J, UK Human Brain Expression Database, Strengman, E, Ophoff, RA, Wagner, M, Moessner, R, Mirel, DB, Posthuma, D, Sabatti, C, Eskin, E, Conti, DV, Knowles, JA, Ruiz-Linares, A, Rouleau, GA, Purcell, S, Heutink, P, Oostra, BA, McMahon, WM, Freimer, NB, Cox, NJ, and Pauls, DL

Subjects
North American Brain Expression Consortium, UK Human Brain Expression Database, Chromosomes, Human, Pair 9, Humans, Tourette Syndrome, Genetic Predisposition to Disease, Fibrillar Collagens, Case-Control Studies, Obsessive-Compulsive Disorder, Attention Deficit Disorder with Hyperactivity, Genotype, Polymorphism, Single Nucleotide, International Cooperation, Adolescent, Adult, Female, Male, Meta-Analysis as Topic, Genome-Wide Association Study, Young Adult, White People, Genetics, Human Genome, Mental Health, Brain Disorders, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, genetics, GWAS, neurodevelopmental disorder, tics, Tourette's syndrome, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P

Published
2013

12. Adolescent risk-taking likelihood, risk perceptions, and benefit perceptions across domains

Author

Eveline A. Crone, Elke U. Weber, Pollak Y, Hilde M. Huizenga, van Hoorn J, van Duijvenvoorde Ac, Brenda R.J. Jansen, Tycho J. Dekkers, Bernd Figner, Neeltje E. Blankenstein, and Popma A

Subjects
Actuarial science, A domain, Specific risk, Risk taking, Psychology
Abstract

Adolescents are often described as notorious risk-takers. However, adolescents do not always take risks and risk-taking may vary across risk-taking domains. Furthermore, there are large individual differences. Certain clinical groups, such as adolescents with ADHD, may be more likely to take risks. In two studies we examined these domain-specific and individual differences using the adolescent Domain-Specific Risk-Taking (DOSPERT)-questionnaire, which assesses adolescents’ self-reported risk-taking likelihood, perceptions of risk, and perceptions of benefits (‘returns’). Furthermore, we examined how risk-taking likelihood is informed by risk- and benefit-perceptions, i.e., ‘risk-return’ weighing. In a community-sample study (N=361, 11-25 years), we tested the domain-specificity across age, and observed a peak in risk-taking likelihood in late adolescence in the Health-Safety domain only. Perceived benefits were heightened, and perceived risks attenuated, in mid-to-late adolescence for Health-Safety, Recreational, and Ethical risks. In a second study, we compared boys with ADHD (N=81) and controls (N=99; 11-20 years). Adolescents with ADHD rated higher risk-taking likelihoods for Social risks only. Risk-return models in both studies revealed that effects of perceived risks (Health-Safety) and benefits (Recreational) on risk-taking likelihood were most pronounced and varied across age. Together, adolescents’ risk-taking likelihood is impacted by risks and returns, age-related differences, and should be studied domain-specifically.

Published
2021

13. The World Federation of ADHD International Consensus Statement: 208 Evidence-based conclusions about the disorder

Author

Faraone, S, Banaschewski, T, Coghill, D, Zheng, Y, Biederman, J, Bellgrove, MA, Newcorn, JH, Gignac, M, Al Saud, NM, Manor, I, Rohde, LA, Yang, L, Cortese, S, Almagor, D, Stein, MA, Albatti, TH, Aljoudi, HF, Alqahtani, MMJ, Asherson, P, Atwoli, L, Bolte, S, Buitelaar, JK, Crunelle, CL, Daley, D, Dalsgaard, S, Doepfner, M, Espinet, S, Fitzgerald, M, Franke, B, Gerlach, M, Haavik, J, Hartman, CA, Hartung, CM, Hinshaw, SP, Hoekstra, PJ, Hollis, C, Kollins, SH, Kooij, JJS, Kuntsi, J, Larsson, H, Li, T, Liu, J, Merzon, E, Mattingly, G, Mattos, P, McCarthy, S, Mikami, AY, Molina, BSG, Nigg, JT, Purper-Ouakil, D, Omigbodun, OO, Polanczyk, G, Pollak, Y, Poulton, AS, Rajkumar, RP, Reding, A, Reif, A, Rubia, K, Rucklidge, J, Romanos, M, Ramos-Quiroga, JA, Schellekens, A, Scheres, A, Schoeman, R, Schweitzer, JB, Shah, H, Solanto, M, Sonuga-Barke, E, Soutullo, C, Steinhausen, H-C, Swanson, JM, Thapar, A, Tripp, G, van de Glind, G, van den Brink, W, Van der Oord, S, Venter, A, Vitiello, B, Walitza, S, Wang, Y, Faraone, S, Banaschewski, T, Coghill, D, Zheng, Y, Biederman, J, Bellgrove, MA, Newcorn, JH, Gignac, M, Al Saud, NM, Manor, I, Rohde, LA, Yang, L, Cortese, S, Almagor, D, Stein, MA, Albatti, TH, Aljoudi, HF, Alqahtani, MMJ, Asherson, P, Atwoli, L, Bolte, S, Buitelaar, JK, Crunelle, CL, Daley, D, Dalsgaard, S, Doepfner, M, Espinet, S, Fitzgerald, M, Franke, B, Gerlach, M, Haavik, J, Hartman, CA, Hartung, CM, Hinshaw, SP, Hoekstra, PJ, Hollis, C, Kollins, SH, Kooij, JJS, Kuntsi, J, Larsson, H, Li, T, Liu, J, Merzon, E, Mattingly, G, Mattos, P, McCarthy, S, Mikami, AY, Molina, BSG, Nigg, JT, Purper-Ouakil, D, Omigbodun, OO, Polanczyk, G, Pollak, Y, Poulton, AS, Rajkumar, RP, Reding, A, Reif, A, Rubia, K, Rucklidge, J, Romanos, M, Ramos-Quiroga, JA, Schellekens, A, Scheres, A, Schoeman, R, Schweitzer, JB, Shah, H, Solanto, M, Sonuga-Barke, E, Soutullo, C, Steinhausen, H-C, Swanson, JM, Thapar, A, Tripp, G, van de Glind, G, van den Brink, W, Van der Oord, S, Venter, A, Vitiello, B, Walitza, S, and Wang, Y

Abstract

BACKGROUND: Misconceptions about ADHD stigmatize affected people, reduce credibility of providers, and prevent/delay treatment. To challenge misconceptions, we curated findings with strong evidence base. METHODS: We reviewed studies with more than 2000 participants or meta-analyses from five or more studies or 2000 or more participants. We excluded meta-analyses that did not assess publication bias, except for meta-analyses of prevalence. For network meta-analyses we required comparison adjusted funnel plots. We excluded treatment studies with waiting-list or treatment as usual controls. From this literature, we extracted evidence-based assertions about the disorder. RESULTS: We generated 208 empirically supported statements about ADHD. The status of the included statements as empirically supported is approved by 80 authors from 27 countries and 6 continents. The contents of the manuscript are endorsed by 366 people who have read this document and agree with its contents. CONCLUSIONS: Many findings in ADHD are supported by meta-analysis. These allow for firm statements about the nature, course, outcome causes, and treatments for disorders that are useful for reducing misconceptions and stigma.

Published
2021

24. Illness, Cytokines, and Depression

Author

YIRMIYA, R., POLLAK, Y., MORAG, M., REICHENBERG, A., BARAK, O., AVITSUR, R., SHAVIT, Y., OVADIA, H., WEIDENFELD, J., MORAG, A., NEWMAN, M. E., and POLLMÄCHER, T.

Published
2000

30. The role of intermediate filaments in maintaining integrity and function of intestinal epithelial cells after massive bowel resection in a rat.

Author

Sukhotnik, I., Shahar, Y. Ben, Pollak, Y., Dorfman, T., Shefer, H. Kreizman, Assi, Z. E., Mor-Vaknin, N., and Coran, A. G.

Subjects
INTESTINAL disease treatment, EPITHELIAL cells, SURGICAL excision, INTESTINAL surgery, CYTOPLASMIC filaments, LABORATORY rats, SMALL intestine surgery, ANIMAL experimentation, APOPTOSIS, BIOLOGICAL models, CELL physiology, CYTOPLASM, CYTOSKELETAL proteins, DIGESTIVE organ surgery, GENES, IMMUNOHISTOCHEMISTRY, SMALL intestine, POLYMERASE chain reaction, PROTEINS, RATS, RNA, WESTERN immunoblotting, REVERSE transcriptase polymerase chain reaction, SHORT bowel syndrome
Abstract

Purpose: Intermediate filaments (IFs) are a part of the cytoskeleton that extend throughout the cytoplasm of all cells and function in the maintenance of cell-shape by bearing tension and serving as structural components of the nuclear lamina. In normal intestine, IFs provide a tissue-specific three-dimensional scaffolding with unique context-dependent organizational features. The purpose of this study was to evaluate the role of IFs during intestinal adaptation in a rat model of short bowel syndrome (SBS).Materials and Methods: Male rats were divided into two groups: Sham rats underwent bowel transection and SBS rats underwent a 75% bowel resection. Parameters of intestinal adaptation, enterocyte proliferation and apoptosis were determined 2 weeks after operation. Illumina's Digital Gene Expression (DGE) analysis was used to determine the cytoskeleton-related gene expression profiling. IF-related genes and protein expression were determined using real-time PCR, Western blotting and immunohistochemistry.Results: Massive small bowel resection resulted in a significant increase in enterocyte proliferation and concomitant increase in cell apoptosis. From the total number of 20,000 probes, 16 cytoskeleton-related genes were investigated. Between these genes, only myosin and tubulin levels were upregulated in SBS compared to sham animals. Between IF-related genes, desmin, vimentin and lamin levels were down-regulated and keratin and neurofilament remain unchanged. The levels of TGF-β, vimentin and desmin gene and protein were down-regulated in resected rats (vs sham animals).Conclusions: Two weeks following massive bowel resection in rats, the accelerated cell turnover was accompanied by a stimulated microfilaments and microtubules, and by inhibited intermediate filaments. Resistance to cell compression rather that maintenance of cell-shape by bearing tension are responsible for contraction, motility and postmitotic cell separation in a late stage of intestinal adaptation. [ABSTRACT FROM AUTHOR]

Published
2018
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33. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

Author

Davis, LK, Yu, DM, Keenan, CL, Gamazon, ER, Konkashbaev, AI, Derks, EM, Neale, BM, Yang, Jiaqi, Lee, SH, Evans, P, Barr, CL, Bellodi, L, Benarroch, F, Berrio, GB, Bienvenu, OJ, Bloch, MH, Blom, RM, Bruun, RD, Budman, CL, Camarena, B, Campbell, D, Cappi, C, Silgado, JCC, Cath, DC, Cavallini, MC, Chavira, DA, Chouinard, S, Conti, DV, Cook, EH, Coric, V, Cullen, BA, Deforce, D, Delorme, R, Dion, Y, Edlund, CK, Egberts, K, Falkai, P, Fernandez, TV, Gallagher, PJ, Garrido, H, Geller, D, Girard, SL, Grabe, HJ, Grados, MA, Greenberg, BD, Gross-Tsur, V, Haddad, S, Heiman, GA, Hemmings, SMJ, Hounie, AG, Illmann, C, Jankovic, J, Jenike, MA, Kennedy, JL, King, RA, Kremeyer, B, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, JF, Lennertz, L, Liu, C, Lochner, C, Lowe, TL, Macciardi, F, McCracken, JT, McGrath, LM, Restrepo, SCM, Moessner, R, Morgan, J, Muller, Heike, Murphy, DL, Naarden, AL, Ochoa, WC, Ophoff, RA, Osiecki, L, Pakstis, AJ, Pato, MT, Pato, CN, Piacentini, J, Pittenger, C, Pollak, Y, Rauch, SL, Renner, TJ, Reus, VI, Richter, MA, Riddle, MA, Robertson, MM, Romero, R, Rosario, MC, Rosenberg, D, Rouleau, GA, Ruhrmann, S, Ruiz-Linares, A, Sampaio, AS, Samuels, J, Sandor, P, Sheppard, B, Singer, HS, Smit, JH, Stein, DJ, Strengman, E, Tischfield, JA, Duarte, AVV, Vallada, H, Van Nieuwerburgh, F, Veenstra-VanderWeele, J, Walitza, S, Wang, Y, Wendland, JR, Westenberg, HGM, Shugart, YY, Miguel, EC, McMahon, W, Wagner, M, Nicolini, H, Posthuma, Daniëlle, Hanna, GL, Heutink, P, Denys, D, Arnold, PD, Oostra, Ben, Nestadt, G, Freimer, NB, Pauls, DL, Wray, NR, Stewart, SE, Mathews, CA, Knowles, JA, Cox, NJ, Scharf, JM, Davis, LK, Yu, DM, Keenan, CL, Gamazon, ER, Konkashbaev, AI, Derks, EM, Neale, BM, Yang, Jiaqi, Lee, SH, Evans, P, Barr, CL, Bellodi, L, Benarroch, F, Berrio, GB, Bienvenu, OJ, Bloch, MH, Blom, RM, Bruun, RD, Budman, CL, Camarena, B, Campbell, D, Cappi, C, Silgado, JCC, Cath, DC, Cavallini, MC, Chavira, DA, Chouinard, S, Conti, DV, Cook, EH, Coric, V, Cullen, BA, Deforce, D, Delorme, R, Dion, Y, Edlund, CK, Egberts, K, Falkai, P, Fernandez, TV, Gallagher, PJ, Garrido, H, Geller, D, Girard, SL, Grabe, HJ, Grados, MA, Greenberg, BD, Gross-Tsur, V, Haddad, S, Heiman, GA, Hemmings, SMJ, Hounie, AG, Illmann, C, Jankovic, J, Jenike, MA, Kennedy, JL, King, RA, Kremeyer, B, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, JF, Lennertz, L, Liu, C, Lochner, C, Lowe, TL, Macciardi, F, McCracken, JT, McGrath, LM, Restrepo, SCM, Moessner, R, Morgan, J, Muller, Heike, Murphy, DL, Naarden, AL, Ochoa, WC, Ophoff, RA, Osiecki, L, Pakstis, AJ, Pato, MT, Pato, CN, Piacentini, J, Pittenger, C, Pollak, Y, Rauch, SL, Renner, TJ, Reus, VI, Richter, MA, Riddle, MA, Robertson, MM, Romero, R, Rosario, MC, Rosenberg, D, Rouleau, GA, Ruhrmann, S, Ruiz-Linares, A, Sampaio, AS, Samuels, J, Sandor, P, Sheppard, B, Singer, HS, Smit, JH, Stein, DJ, Strengman, E, Tischfield, JA, Duarte, AVV, Vallada, H, Van Nieuwerburgh, F, Veenstra-VanderWeele, J, Walitza, S, Wang, Y, Wendland, JR, Westenberg, HGM, Shugart, YY, Miguel, EC, McMahon, W, Wagner, M, Nicolini, H, Posthuma, Daniëlle, Hanna, GL, Heutink, P, Denys, D, Arnold, PD, Oostra, Ben, Nestadt, G, Freimer, NB, Pauls, DL, Wray, NR, Stewart, SE, Mathews, CA, Knowles, JA, Cox, NJ, and Scharf, JM

Abstract

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

Published
2013

34. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

Author

Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., Neale, B. M., Yang, J., Lee, S. H., Evans, P., Barr, C. L., Bellodi, L., Benarroch, F., Berrio, G. B., Bienvenu, O. J., Bloch, M. H., Blom, R. M., Bruun, R. D., Budman, C. L., Camarena, B., Campbell, D., Cappi, C., Cardona Silgado, J. C., Cath, D. C., Cavallini, M. C., Chavira, D. A., Chouinard, S., Conti, D. V., Cook, E. H., Coric, V., Cullen, B. A., Deforce, D., Delorme, R., Dion, Y., Edlund, C. K., Egberts, K., Falkai, P., Fernandez, T. V., Gallagher, P. J., Garrido, H., Geller, D., Girard, Simon, Grabe, H. J., Grados, M. A., Greenberg, B. D., Gross-Tsur, V., Haddad, S., Heiman, G. A., Hemmings, S. M.J., Hounie, A. G., Illmann, C., Jankovic, J., Jenike, M. A., Kennedy, J. L., King, R. A., Kremeyer, B., Kurlan, R., Lanzagorta, N., Leboyer, M., Leckman, J. F., Lennertz, L., Liu, C., Lochner, C., Lowe, T. L., Macciardi, F., McCracken, J. T., McGrath, L. M., Mesa Restrepo, S. C., Moessner, R., Morgan, J., Muller, H., Murphy, D. L., Naarden, A. L., Ochoa, W. C., Ophoff, R. A., Osiecki, L., Pakstis, A. J., Pato, M. T., Pato, C. N., Piacentini, J., Pittenger, C., Pollak, Y., Rauch, S. L., Renner, T. J., Reus, V. I., Richter, M. A., Riddle, M. A., Robertson, M. M., Romero, R., Rosario, M. C., Rosenberg, D., Rouleau, G. A., Ruhrmann, S., Ruiz-Linares, A., Sampaio, A. S., Samuels, J., Sandor, P., Sheppard, B., Singer, H. S., Smit, J. H., Stein, D. J., Strengman, E., Tischfield, J. A., Valencia Duarte, A. V., Vallada, H., Van Nieuwerburgh, F., Veenstra-Vanderweele, J., Walitza, S., Wang, Y., Wendland, J. R., Westenberg, H. G.M., Shugart, Y. Y., Miguel, E. C., McMahon, W., Wagner, M., Nicolini, H., Posthuma, D., Hanna, G. L., Heutink, P., Denys, D., Arnold, P. D., Oostra, B. A., Nestadt, G., Freimer, N. B., Pauls, D. L., Wray, N. R., Stewart, S. E., Mathews, C. A., Knowles, J. A., Cox, N. J., Scharf, J. M., Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., Neale, B. M., Yang, J., Lee, S. H., Evans, P., Barr, C. L., Bellodi, L., Benarroch, F., Berrio, G. B., Bienvenu, O. J., Bloch, M. H., Blom, R. M., Bruun, R. D., Budman, C. L., Camarena, B., Campbell, D., Cappi, C., Cardona Silgado, J. C., Cath, D. C., Cavallini, M. C., Chavira, D. A., Chouinard, S., Conti, D. V., Cook, E. H., Coric, V., Cullen, B. A., Deforce, D., Delorme, R., Dion, Y., Edlund, C. K., Egberts, K., Falkai, P., Fernandez, T. V., Gallagher, P. J., Garrido, H., Geller, D., Girard, Simon, Grabe, H. J., Grados, M. A., Greenberg, B. D., Gross-Tsur, V., Haddad, S., Heiman, G. A., Hemmings, S. M.J., Hounie, A. G., Illmann, C., Jankovic, J., Jenike, M. A., Kennedy, J. L., King, R. A., Kremeyer, B., Kurlan, R., Lanzagorta, N., Leboyer, M., Leckman, J. F., Lennertz, L., Liu, C., Lochner, C., Lowe, T. L., Macciardi, F., McCracken, J. T., McGrath, L. M., Mesa Restrepo, S. C., Moessner, R., Morgan, J., Muller, H., Murphy, D. L., Naarden, A. L., Ochoa, W. C., Ophoff, R. A., Osiecki, L., Pakstis, A. J., Pato, M. T., Pato, C. N., Piacentini, J., Pittenger, C., Pollak, Y., Rauch, S. L., Renner, T. J., Reus, V. I., Richter, M. A., Riddle, M. A., Robertson, M. M., Romero, R., Rosario, M. C., Rosenberg, D., Rouleau, G. A., Ruhrmann, S., Ruiz-Linares, A., Sampaio, A. S., Samuels, J., Sandor, P., Sheppard, B., Singer, H. S., Smit, J. H., Stein, D. J., Strengman, E., Tischfield, J. A., Valencia Duarte, A. V., Vallada, H., Van Nieuwerburgh, F., Veenstra-Vanderweele, J., Walitza, S., Wang, Y., Wendland, J. R., Westenberg, H. G.M., Shugart, Y. Y., Miguel, E. C., McMahon, W., Wagner, M., Nicolini, H., Posthuma, D., Hanna, G. L., Heutink, P., Denys, D., Arnold, P. D., Oostra, B. A., Nestadt, G., Freimer, N. B., Pauls, D. L., Wray, N. R., Stewart, S. E., Mathews, C. A., Knowles, J. A., Cox, N. J., and Scharf, J. M.

Abstract

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

Published
2013

48. Locus of control, perceived parenting style, and symptoms of anxiety and depression in children with Tourette's syndrome.

Author

Cohen E, Sade M, Benarroch F, Pollak Y, and Gross-Tsur V

Abstract

Aim: This study explored the contribution of two psychosocial factors, locus of control (LOC) and perceived parenting style, to symptoms of internalizing disorders in children with Tourette syndrome (TS). This contribution was further evaluated in relation to TS severity. Methods: Sixty-five children (53 boys, 12 girls) ages 9.0-16.9 years, of normal intelligence, completed questionnaires evaluating their depression and anxiety symptoms, LOC, and maternal parenting style. Their mothers rated TS severity, determined by tic severity, symptoms of attention-deficit hypreactivity disorder (ADHD) and obsessive compulsive symptoms (OCS). Results: Higher rates of symptoms of anxiety and depression were associated with a more external LOC and a more rejecting and controlling parenting style. Additionally, depression correlated significantly with tic severity, ADHD and OCS, whereas anxiety correlated only with ADHD symptoms and OCS, but not with tics. Regression analyses showed that LOC, OCS and ADHD symptoms each significantly contributed to predicting anxiety level, whereas LOC and ADHD symptoms significantly contributed to predicting depression symptoms. Conclusions: Rates of symptoms of anxiety and depression in children with TS are markedly influenced by psychosocial factors, extending beyond the influence of ADHD and OCD, both common comorbid disorders in TS. An internal LOC, which is associated with an accepting and autonomy-granting parenting style, appears to be a protective factor against anxiety and depression. [ABSTRACT FROM AUTHOR]

Published
2008
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49. Retrieval processes in adults with ADHD: a RAVLT study.

Author

Pollak Y, Kahana-Vax G, and Hoofien D

Abstract

Attention-deficit hyperactivity disorder (ADHD) is associated with memory deficiencies. In the current study we compared different aspects of verbal memory using standard and constructed measures of the Rey auditory verbal learning test (RAVLT). Performance on learning and recognition measures of RAVLT was similar in both ADHD and control groups. In contrast, adults with ADHD committed more double recalls and intrusion errors, indicating inaccurate recall processes. These findings suggest that memory problems in adults with ADHD may be caused by deficient executive processes that support retrieval from memory. [ABSTRACT FROM AUTHOR]

Published
2008

50. MULTIMODALITY IMAGE FUSION TO FACILITATE ANATOMIC LOCALIZATION OF 99MTC-PERTECHNETATE UPTAKE IN THE FELINE HEAD.

Author

Barthez, P. Y., Schaafsma, I. A., and Pollak, Y. W. E. A.

Subjects
HYPERTHYROIDISM, CAT diseases, VETERINARY tomography, VETERINARY diagnostic imaging, VETERINARY diagnosis
Abstract

99mTc-pertechnetate is excreted in humans by the thyroid glands, gastric mucosa, salivary glands, choroid plexus, and sweat glands. Uptake attributed to the zygomatic and molar salivary glands is used commonly as a reference to assess thyroid uptake and differentiate euthyroid from hyperthyroid cats. However, the exact location and origin of uptake of 99mTc-pertechnetate in the head during thyroid scintigraphy in cats remains uncertain. The purpose of this study was to localize uptake of 99mTc-pertechnetate in the head of the cat using multimodality image fusion. Computed tomography (CT), magnetic resonance (MR), and single photon emission tomography (SPECT) imaging were performed successively in two cats during the same anesthesia procedure. Transverse, dorsal, and sagittal images were reconstructed for each modality. Images were rescaled and fused manually. The anatomic location of focal 99mTc activity in SPECT images was identified in CT and MR images. Four major and four minor focal areas of uptakes were identified in the head in both cats. A rostral conical-shaped activity was identified in the nasal cavity. Two symmetric focal areas of uptakes seen in the soft tissues in the ventro-caudal retro-bulbar region, and rostro-medial to the vertical ramus of the mandible were attributed to zygomatic salivary glands. A central focal activity located ventral and caudal to the zygomatic uptake was located in the nasopharynx and soft palate. Minor symmetric areas of uptake identified in the retromandibular region were attributed to parotid and mandibular salivary glands. Minor symmetric areas of uptake identified in the region of the mandible were attributed to molar salivary glands. No focal area of uptake was identified in the brain. [ABSTRACT FROM AUTHOR]

Published
2006
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