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8. North Asian population relationships in a global context

Author

Kidd, Kenneth K., Evsanaa, Baigalmaa, Togtokh, Ariunaa, Brissenden, Jane E., Roscoe, Janet M., Dogan, Mustafa, Neophytou, Pavlos I., Gurkan, Cemal, Bulbul, Ozlem, Cherni, Lotfi, Speed, William C., Murtha, Michael, Kidd, Judith R., and Pakstis, Andrew J.

Published
2022
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12. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Author

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, Fagerness, Jesen A, Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M, Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrió, 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, MR, Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, 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, Grünblatt, Edna, Hardy, John, Heiman, Gary A, Hemmings, Sian MJ, 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, Mesa Restrepo, Sandra C, 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, Carlos N, Piacentini, John, Pittenger, Christopher, and Pollak, Yehuda

Subjects
Humans, Tourette Syndrome, Severity of Illness Index, Obsessive-Compulsive Disorder, Psychiatric Status Rating Scales, Comorbidity, Polymorphism, Single Nucleotide, Adult, Female, Male, Genome-Wide Association Study, Human Genome, Genetics, Brain Disorders, Serious Mental Illness, Neurodegenerative, Prevention, Anxiety Disorders, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

ObjectiveObsessive-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.MethodThe 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.ResultsAlthough 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=2×10(-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).ConclusionsPrevious 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 Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.

Published
2015

13. Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs

Author

Pakstis, Andrew J., Gurkan, Cemal, Dogan, Mustafa, Balkaya, Hasan Emin, Dogan, Serkan, Neophytou, Pavlos I., Cherni, Lotfi, Boussetta, Sami, Khodjet-El-Khil, Houssein, Ben Ammar ElGaaied, Amel, Salvo, Nina Mjølsnes, Janssen, Kirstin, Olsen, Gunn-Hege, Hadi, Sibte, Almohammed, Eida Khalaf, Pereira, Vania, Truelsen, Ditte Mikkelsen, Bulbul, Ozlem, Soundararajan, Usha, Rajeevan, Haseena, Kidd, Judith R., and Kidd, Kenneth K.

Published
2019
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14. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

Author

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, Rosário, 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, Grünblatt, Edna, Heiman, Gary A, Hemmings, Sian MJ, 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, Tischfield, Jay A, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R, Shugart, Yin Yao, Miguel, Euripedes C, Nicolini, Humberto, and Oostra, Ben A

Subjects
Human Genome, Genetics, Brain Disorders, Serious Mental Illness, Neurodegenerative, Mental Health, Tourette Syndrome, Neurosciences, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, DNA Copy Number Variations, Diagnostic and Statistical Manual of Mental Disorders, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Obsessive-Compulsive Disorder, Polymorphism, Single Nucleotide, Tourette syndrome, obsessive-compulsive disorder, copy number variation, genetics, 16p13.11, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental & Child Psychology
Abstract

ObjectiveObsessive-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 (

Published
2014

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

Author

Davis, Lea K, Yu, Dongmei, Keenan, Clare L, Gamazon, Eric R, Konkashbaev, Anuar I, Derks, Eske M, Neale, Benjamin M, Yang, Jian, Lee, S. Hong, Evans, Patrick, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrio, Gabriel Bedoya, Bienvenu, Oscar J, Bloch, Michael H, Blom, Rianne M, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond, Cappi, Carolina, Cardona Silgado, Julio C, Cath, Danielle C, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Conti, David V, Cook, Edwin H, Coric, Vladimir, Cullen, Bernadette A, Deforce, Dieter, Delorme, Richard, Dion, Yves, Edlund, Christopher K, Egberts, Karin, Falkai, Peter, Fernandez, Thomas V, Gallagher, Patience J, Garrido, Helena, Geller, Daniel, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Haddad, Stephen, Heiman, Gary A, Hemmings, Sian M. J, Hounie, Ana G, Illmann, Cornelia, Jankovic, Joseph, Jenike, Michael A, Kennedy, James L, King, Robert A, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Macciardi, Fabio, McCracken, James T, McGrath, Lauren M, Mesa Restrepo, Sandra C, Moessner, Rainald, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Ochoa, William Cornejo, Ophoff, Roel A, Osiecki, Lisa, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L, Renner, Tobias J, Reus, Victor I, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Romero, Roxana, Rosàrio, Maria C, Rosenberg, David, Rouleau, Guy A, Ruhrmann, Stephan, Ruiz-Linares, Andres, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S, and Smit, Jan H

Subjects
Missing Heritability, Tic Disorders, Neuropsychiatric Disorders, Complex Diseases, Common Snps, Gilles, Family, Brain, Expression, Autism
Published
2013

27. Gene Variants Associated with Antisocial Behaviour: A Latent Variable Approach

Author

Bentley, Mary Jane, Lin, Haiqun, Fernandez, Thomas V., Lee, Maria, Yrigollen, Carolyn M., Pakstis, Andrew J., Katsovich, Liliya, Olds, David L., Grigorenko, Elena L., and Leckman, James F.

Abstract

Objective: The aim of this study was to determine if a latent variable approach might be useful in identifying shared variance across genetic risk alleles that is associated with antisocial behaviour at age 15 years. Methods: Using a conventional latent variable approach, we derived an antisocial phenotype in 328 adolescents utilizing data from a 15-year follow-up of a randomized trial of a prenatal and infancy nurse-home visitation programme in Elmira, New York. We then investigated, via a novel latent variable approach, 450 informative genetic polymorphisms in 71 genes previously associated with antisocial behaviour, drug use, affiliative behaviours and stress response in 241 consenting individuals for whom DNA was available. Haplotype and Pathway analyses were also performed. Results: Eight single-nucleotide polymorphisms (SNPs) from eight genes contributed to the latent genetic variable that in turn accounted for 16.0% of the variance within the latent antisocial phenotype. The number of risk alleles was linearly related to the latent antisocial variable scores. Haplotypes that included the putative risk alleles for all eight genes were also associated with higher latent antisocial variable scores. In addition, 33 SNPs from 63 of the remaining genes were also significant when added to the final model. Many of these genes interact on a molecular level, forming molecular networks. The results support a role for genes related to dopamine, norepinephrine, serotonin, glutamate, opioid and cholinergic signalling as well as stress response pathways in mediating susceptibility to antisocial behaviour. Conclusions: This preliminary study supports use of relevant behavioural indicators and latent variable approaches to study the potential "co-action" of gene variants associated with antisocial behaviour. It also underscores the cumulative relevance of common genetic variants for understanding the aetiology of complex behaviour. If replicated in future studies, this approach may allow the identification of a "shared" variance across genetic risk alleles associated with complex neuropsychiatric dimensional phenotypes using relatively small numbers of well-characterized research participants.

Published
2013
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31. Vibratory Urticaria Associated with a Missense Variant in ADGRE2

Author

Boyden, Steven E., Desai, Avanti, Cruse, Glenn, Young, Michael L., Bolan, Hyejeong C., Scott, Linda M., Eisch, Robin A., Long, Daniel R., Lee, Chyi-Chia R., Satorius, Colleen L., Pakstis, Andrew J., Olivera, Ana, Mullikin, James C., Chouery, Eliane, Mégarbané, André, Medlej-Hashim, Myrna, Kidd, Kenneth K., Kastner, Daniel L., Metcalfe, Dean D., and Komarow, Hirsh D.

Published
2016
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34. A global view of the OCA2-HERC2 region and pigmentation

Author

Donnelly, Michael P., Paschou, Peristera, Grigorenko, Elena, Gurwitz, David, Barta, Csaba, Lu, Ru-Band, Zhukova, Olga V., Kim, Jong-Jin, Siniscalco, Marcello, New, Maria, Li, Hui, Kajuna, Sylvester L. B., Manolopoulos, Vangelis G., Speed, William C., Pakstis, Andrew J., Kidd, Judith R., and Kidd, Kenneth K.

Published
2012
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37. Aggressive behavior, related conduct problems, and variation in genes affecting dopamine turnover

Author

Grigorenko, Elena L., DeYoung, Colin G., Eastman, Maria, Getchell, Marya, Haeffel, Gerald J., Klinteberg, Britt af, Koposov, Roman A., Oreland, Lars, Pakstis, Andrew J., Ponomarev, Oleg A., Ruchkin, Vladislav V., Singh, Jay P., and Yrigollen, Carolyn M.

Subjects
Dopamine -- Genetic aspects, Behavioral assessment -- Methods, Health, Psychology and mental health, Sociology and social work
Published
2010

38. The distribution and most recent common ancestor of the 17q21 inversion in humans

Author

Donnelly, Michael P., Grigorenko, Elena, Gurwitz, David, Mehdi, Syed Qasim, Paschou, Peristera, Kajuna, Sylvester L.B., Barta, Csaba, Kungulilo, Selemani, Karoma, N.J., Ru-Band Lu, Zhukova, Olga V., Jong-Jin Kim, Comas, David, Siniscalco, Marcello, New, Maria, Peining Li, Manolopoulos, Vangelis G., Hui Li, Speed, William C., Rajeevan, Haseena, Pakstis, Andrew J., Kidd, Judith R., and Kidd, Kenneth K.

Subjects
Proteins -- Research, Human genetics -- Research, Genetic polymorphisms -- Research, Inversion (Genetics) -- Research, Biological sciences
Abstract

Studies offer insights into the geographical and racial distribution of the polymorphic inversion on 17q21, also called the microtubular associated protein tau (MAPT) inversion) in humans. Data analysis also suggests that the most recent common ancestor for the H2 haplotype inversion could be dated at about 13,600 to 108, 400 years earlier, much more recent than the 3 million year date previously suggested.

Published
2010

42. Evidence of positive selection on a class I ADH locus

Author

Yi Han, Sheng Gu, Oota, Hiroki, Osier, Michael V., Pakstis, Andrew J., Speed, William C., Kidd, Judith R., and Kidd, Kenneth K.

Subjects
Alcohol dehydrogenase -- Research, Oxidation-reduction reaction -- Research, Single nucleotide polymorphisms -- Research, Allelomorphism -- Research, Biological sciences
Abstract

The genomic signature of selection at alcohol dehydrogenase (ADH1B) is described, focusing on that polymorphism and East Asian populations. The results have provided evidence that selection has operated on the ADH1B gene in East Asian populations to increase one haplotype of the gene to high frequency.

Published
2007

46. ALFRED: an allele frequency database for anthropology

Author

Osier, Michael V., Cheung, Kei-Hoi, Kidd, Judith R., Pakstis, Andrew J., Miller, Perry L., and Kidd, Kenneth K.

Subjects
Human population genetics, Physical anthropology -- Genetic aspects, Genetic polymorphisms, Anthropology/archeology/folklore
Abstract

The deluge of data from the human genome project (HGP) presents new opportunities for molecular anthropologists to study human variation through the promise of vast numbers of new polymorphisms (e.g., single nucleotide polymorphisms or SNPs). Collecting the resulting data into a single, easily accessible resource will be important to facilitate this research. We created a prototype Web-accessible database named ALFRED (ALelle FREquency Database, http://alfred.med.yale.edu/ alfred/) to store and make publicly available allele frequency data on diverse polymorphic sites for many populations. In constructing this database, we considered many different concerns relating to the types of information needed for anthropology, population genetics, molecular genetics, and statistics, as well as issues of data integrity and ease of access to data. We also developed links to other Web-based databases as well as procedures for others to make links to the data in ALFRED. Here we present an overview of the issues considered and provisional solutions, as well as an example of data already available. It is our hope that this database will be useful for research and teaching in a wide range of fields, and that colleagues from various fields will contribute to making ALFRED an important resource for many studies as yet unforeseen. Am J Phys Anthropol 119:77-83, 2002. KEY WORDS human evolution; population genetics; gene frequency

Published
2002

47. A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity

Author

Osier, Michael V., Pakstis, Andrew J., Soodyall, Himla, Comas, David, Goldman, David, Odunsi, Adekunle, Okonofua, Friday, Parnas, Josef, Schulz, Leslie O., Bertranpetit, Jaume, Bonne-Tamir, Batsheva, Lu, Ru-Band, Kidd, Judith R., and Kidd, Kenneth K.

Subjects
Population genetics -- Research, Linkage (Genetics) -- Analysis, Alcohol dehydrogenase -- Genetic aspects, Haplotypes -- Analysis, Biological sciences
Published
2002

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