Common genetic variation and performance on standardized cognitive tests
Open accessAbstract
One surprising feature of the recently completed waves of genome-wide association studies is the limited impact of common genetic variation in individually detectable polymorphisms on many human traits. This has been particularly pronounced for studies on psychiatric conditions, which have failed to produce clear, replicable associations for common variants. One popular explanation for these negative findings is that many of these traits may be genetically heterogeneous, leading to the idea that relevant endophenotypes may be more genetically tractable. Aspects of cognition may be the most important endophenotypes for psychiatric conditions such as schizophrenia, leading many researchers to pursue large-scale studies on the genetic contributors of cognitive performance in the normal population as a surrogate for aspects of liability to disease. Here, we perform a genome-wide association study with two tests of executive function, Digit Symbol and Stroop Color-Word, in 1086 healthy volunteers and with an expanded cognitive battery in 514 of these volunteers. We show that, consistent with published studies of the psychiatric conditions themselves, no single common variant has a large effect (explaining >4-8% of the population variation) on the performance of healthy individuals on standardized cognitive tests. Given that these are important endophenotypes, our work is consistent with the idea that identifying rare genetic causes of psychiatric conditions may be more important for future research than identifying genetically homogenous endophenotypes.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Many genetic and epigenetic factors, including multiple rare single nucleotide variants, copy number variations, and other structural variation, likely contribute to common complex diseases.
“It is now widely believed that many genetic and epigenetic factors are likely to contribute to common complex diseases, including multiple rare SNVs (defined by convention as those that have frequencies < 1%), copy number variations (CNVs), and other forms of structural variation. 3–12”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [12]
Rare variant effects can manifest as compound heterozygosity, the unmasking of deleterious variants through deletions on a homologous chromosome, and other haplotype context-dependent phenomena.
“Rare variant effects can manifest as compound heterozygosity,90 the ‘unmasking’ of deleterious variants via deletions on a homologous chromosome12, and other haplotype context-dependent phenomena.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [12]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment
Nasreddine, Z. S., Phillips, N. A., Bédirian, V., Charbonneau, S., Whitehead, V., Collin, I., Cummings, J. L., & Chertkow, H. (2005) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2005.53221.x · Cited by 25,553 · see citing works
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works
Self-citation(2012) · Springer eBooks · doi:10.1007/springerreference_179754 · Cited by 2,095 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Self-citationPersonal genomes: The case of the missing heritability
Maher, B. (2008) · Nature · doi:10.1038/456018a · Cited by 1,737 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070 · see citing works
Integrated detection and population-genetic analysis of SNPs and copy number variation
McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.238 · Cited by 936 · see citing works
Dickinson, D., Ramsey, M. E., & Gold, J. M. (2007) · Archives of General Psychiatry · doi:10.1001/archpsyc.64.5.532 · Cited by 863 · see citing works
Beck, A. T., Ward, C. H., Mendelson, M., Mock, J., & Erbauch, J. (1961) · PsycTESTS Dataset · doi:10.1037/t00741-000 · Cited by 816 · see citing works
Multilingual Aphasia Examination
Patterson, J. P. (2010) · Springer eBooks · doi:10.1007/978-0-387-79948-3_900 · Cited by 690 · see citing works
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Verbal fluency in aging and dementia
Rosen, W. G. (1980) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/01688638008403788 · Cited by 597 · see citing works
Psychiatric endophenotypes and the development of valid animal models
Gould, T. D., & Gottesman, I. I. (2005) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2005.00186.x · Cited by 507 · see citing works
Cognitive deficits in relatives of patients with schizophrenia: a meta-analysis
Sitskoorn, M. M., Aleman, A., Ebisch, S. J. H., Appels, M. C. M., & Kahn, R. S. (2004) · Schizophrenia Research · doi:10.1016/j.schres.2004.03.007 · Cited by 443 · see citing works
Genetic architecture of quantitative traits in mice, flies, and humansPreprint
Jonathan Flint, C., & Mackay, T. F. C. (2009) · Genome Research · doi:10.1101/gr.086660.108 · Cited by 404 · see citing works
Common Kibra Alleles Are Associated with Human Memory Performance
Papassotiropoulos, A., Stephan, D. A., Huentelman, M. J., Hoerndli, F. J., Craig, D. W., Pearson, J. V., Huynh, K.-D., Brunner, F., Corneveaux, J. J., Osborne, D., et al. (2006) · Science · doi:10.1126/science.1129837 · Cited by 402 · see citing works
Neurocognitive correlates of the COMT Val158Met polymorphism in chronic schizophrenia
Bilder, R. M., Volavka, J., Czobor, P., Malhotra, A. K., Kennedy, J. L., Ni, X., GOLDMAN, R. S., Hoptman, M. J., Sheitman, B., Lindenmayer, J., et al. (2002) · Biological Psychiatry · doi:10.1016/s0006-3223(02)01416-6 · Cited by 324 · see citing works
Muglia, P., Tozzi, F., Galwey, N. W., Francks, C., Upmanyu, R., Kong, X., Antoniades, A., Domenici, E., Perry, J., Rothen, S., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.131 · Cited by 265 · see citing works
Ho, B., Milev, P., OʼLeary, D. S., Librant, A. L., Andreasen, N. C., & Wassink, T. H. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.7.731 · Cited by 265 · see citing works
Balanzá‐Martínez, V., RUBIO, C., Selva‐Vera, G., Martínez‐Arán, A., Sánchez‐Moreno, J., Salazar-Fraile, J., Vieta, E., & Tabarés‐Seisdedos, R. (2008) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2008.05.019 · Cited by 223 · see citing works
Seshadri, S. S., DeStefano, A. L., Au, R., Massaro, J. M., Beiser, A., Kelly‐Hayes, M., Kase, C. S., D’Agostino, R. B., DeCarli, C. S., Atwood, L. D., et al. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-s1-s15 · Cited by 199 · see citing works
Impact of the COMT Val108/158 Met and DAT genotypes on prefrontal function in healthy subjects
Caldú, X., Vendrell, P., David Bartrés-faz, A., Clemente, I. C., Bargalló, N., Jurado, M. Á., Serra-Grabulosa, J. M., & Junqué, C. (2007) · NeuroImage · doi:10.1016/j.neuroimage.2007.06.021 · Cited by 183 · see citing works
Bidwell, L. C., Willcutt, E. G., DeFries, J. C., & Pennington, B. F. (2007) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.04.003 · Cited by 183 · see citing works
RYBAKOWSKI, J. K., Borkowska, A., Czerski, P. M., Skibińska, M., & Hauser, J. (2003) · Bipolar Disorders · doi:10.1046/j.1399-5618.2003.00071.x · Cited by 174 · see citing works
Variability and stability in cognitive abilities are largely genetic later in life
Plomin, R. J., Pedersen, N. L., Lichtenstein, P., & McClearn, G. E. (1994) · Behavior Genetics · doi:10.1007/bf01067188 · Cited by 165 · see citing works
Butcher, L. M., Davis, O. S. P., Craig, I., & Plomin, R. J. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00368.x · Cited by 154 · see citing works
McGue, M. K., & Christensen, K. (2001) · Psychology and Aging · doi:10.1037/0882-7974.16.2.272 · Cited by 152 · see citing works
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
Need, A. C., Attix, D. K., McEvoy, J. M., Cirulli, E. T., Linney, K. L., Hunt, P., Ge, D., Heinzen, E. L., Maia, J. M., Shianna, K. V., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp413 · Cited by 133 · see citing works
Self-citationWaldman, I. D. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.03.002 · Cited by 125 · see citing works
Rommelse, N. N. J., Altink, M. E., Oosterlaan, J., Buschgens, C. J. M., Buitelaar, J. K., & Sergeant, J. A. (2008) · Psychological Medicine · doi:10.1017/s0033291708002869 · Cited by 125 · see citing works
Evidence for Genetic Mediation of Executive Control: A Study of Aging Male Twins
Swan, G. E., & Carmelli, D. (2002) · The Journals of Gerontology Series B · doi:10.1093/geronb/57.2.p133 · Cited by 108 · see citing works
Application of Hierarchical Genetic Models to Raven and WAIS Subtests: A Dutch Twin Study
Rijsdijk, F., Vernon, P., & Boomsma, D. (2002) · Behavior Genetics · doi:10.1023/a:1016021128949 · Cited by 106 · see citing works
The Measurement of Creativity by the Stroop Color and Word Test
Golden, C. J. (1975) · Journal of Personality Assessment · doi:10.1207/s15327752jpa3905_9 · Cited by 91 · see citing works
Role of the cholinergic muscarinic 2 receptor (CHRM2) gene in cognition
Comings, D. E., Wu, S., Rostamkhani, M., McGue, M. K., lacono, W. G., Cheng, L.-T., & MacMurray, J. P. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001095 · Cited by 87 · see citing works
Huentelman, M. J., Papassotiropoulos, A., Craig, D. W., Hoerndli, F. J., Pearson, J. V., Huynh, K.-D., Corneveaux, J. J., Hänggi, J., Mondadori, C. R. A., Buchmann, A., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm097 · Cited by 86 · see citing works
Loesch, D. Z., Huggins, R., Bui, M., Epstein, J., Taylor, A. K., & Hagerman, R. J. (2002) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200212000-00004 · Cited by 80 · see citing works
Failure to replicate effect of kibra on human memory in two large cohorts of European origin
Need, A. C., Attix, D. K., McEvoy, J. M., Cirulli, E. T., Linney, K. N., Wagoner, A. P., Gumbs, C. E., Giegling, I., Möller, H., Francks, C., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30658 · Cited by 70 · see citing works
Self-citationAssociation of CHRM2 with IQ: Converging Evidence for a Gene Influencing Intelligence
Dick, D. M., Alıev, F., Kramer, J., Wang, J. C. C., Hinrichs, A. L., Bertelsen, S. E., Samuel Kuperman, C., Schuckit, M. A., Nürnberger, J. I., Edenberg, H. J., et al. (2006) · Behavior Genetics · doi:10.1007/s10519-006-9131-2 · Cited by 69 · see citing works
Working memory in siblings of schizophrenia patients
Barrantes‐Vidal, N., Aguilera, M., Campanera, S., Fatjó‐Vilas, M., Guitart‐Masip, M., Miret, S., Valero, S., & Fañanás, L. (2007) · Schizophrenia Research · doi:10.1016/j.schres.2007.06.020 · Cited by 63 · see citing works
Johansson, B., Whitfield, K., Pedersen, N. L., Hofer, S. M., Ahern, F. M., & McClearn, G. E. (1999) · The Journals of Gerontology Series B · doi:10.1093/geronb/54b.3.p173 · Cited by 59 · see citing works
Cathepsin D exon 2 polymorphism associated with general intelligence in a healthy older population
Payton, A., Holland, F., Diggle, P. J., Rabbitt, P., Horan, M. A., Davidson, Y. S., Gibbons, L., Worthington, J., Ollier, W., & Pendleton, N. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001239 · Cited by 48 · see citing works
Longitudinal change in memory performance associated with HTR2A polymorphism
Reynolds, C. A., Jansson, M., Gatz, M., & Pedersen, N. L. (2005) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2004.12.009 · Cited by 42 · see citing works
Progress in the Molecular-Genetic Study of Intelligence
Danielle Posthuma, B., & de Geus, E. J. C. (2006) · Current Directions in Psychological Science · doi:10.1111/j.1467-8721.2006.00426.x · Cited by 39 · see citing works
Cognitive Traits Link to Human Chromosomal Regions
Buyske, S. G., Bates, M. E., Gharani, N., Matise, T. C., Tischfield, J. A., & Manowitz, P. (2005) · Behavior Genetics · doi:10.1007/s10519-005-9008-9 · Cited by 37 · see citing works
Genetic influences on memory performance in familial Alzheimer disease
Lee, J. H., Flaquer, A., Stern, Y., Tycko, B., & Mayeux, R. P. (2004) · Neurology · doi:10.1212/01.wnl.0000106461.96637.ac · Cited by 34 · see citing works
Cerebrovascular risk factors do not contribute to genetic variance of cognitive function
Sleegers, K., de Koning, I., Aulchenko, Y. S., van Rijn, M. J. E., Houben, M. P. W. A., Croes, E. A., Swieten, J. C. V., Oostra, B. A., & van Duijn, C. M. (2006) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2006.03.012 · Cited by 27 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
New genetic loci link adipose and insulin biology to body fat distribution
The ADIPOGen Consortium, Shungin, D., The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The GEFOS Consortium, The GENIE Consortium, The, G. L. G. C., The, I. C. B. P., The International Endogene Consortium, Study, T. L. C., et al. (2015) · Nature · doi:10.1038/nature14132 · Cited by 1,580 · see citing works
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · see citing works
Self-citationWinkler, T. W., Justice, A. E., Graff, M., Barata, L., Feitosa, M. F., Chu, S. H., Czajkowski, J., Esko, T., Fall, T., Kilpeläinen, T. O., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005378 · Cited by 664 · see citing works
Deary, I. J. (2012) · Annual Review of Psychology · doi:10.1146/annurev-psych-120710-100353 · Cited by 467 · see citing works
Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455 · see citing works
Meda, S. A., Ruaño, G., Windemuth, A., O’Neil, K., Berwise, C., Dunn, S. M., Boccaccio, L. E., Narayanan, B., Kocherla, M., Sprooten, E., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1313093111 · Cited by 242 · see citing works
Smith, P. J., Need, A. C., Cirulli, E. T., Chiba-Falek, O., & Attix, D. K. (2013) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/13803395.2013.771618 · Cited by 176 · see citing works
Self-citationCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association study
Kasperavičiūtė, D., Catarino, C. B., Heinzen, E. L., Depondt, C., Cavalleri, G. L., Caboclo, L. O. S. F., Tate, S. K., Jamnadas-Khoda, J., Chinthapalli, K., Clayton, L. M. S., et al. (2010) · Brain · doi:10.1093/brain/awq130 · Cited by 153 · see citing works
Self-citationEndophenotypes in Psychopathology Research: Where Do We Stand?
Miller, G. A., & Rockstroh, B. S. (2013) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-050212-185540 · Cited by 151 · see citing works
GWAS for executive function and processing speed suggests involvement of the CADM2 gene
Ibrahim-Verbaas, C. A., Bressler, J., Debette, S., Schuur, M., Smith, A. V., Bis, J. C., Davies, G., Trompet, S., Smith, J. A., Wolf, C., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.37 · Cited by 147 · see citing works
Integrative genomics identifies APOE ε4 effectors in Alzheimer's disease
Rhinn, H., Fujita, R., Qiang, L., Cheng, R., Lee, J. H., & Abeliovich, A. (2013) · Nature · doi:10.1038/nature12415 · Cited by 144 · see citing works
RetractedThe genetics of cognitive ability and cognitive ageing in healthy older people
Harris, S. E., & Deary, I. J. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.004 · Cited by 122 · see citing works
Heck, A., Fastenrath, M., Ackermann, S., Auschra, B., Bickel, H., Coynel, D., Gschwind, L., Jessen, F., Kaduszkiewicz, H., Maier, W., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.01.010 · Cited by 92 · see citing works
Bartholomew, A. J., & Cirulli, E. T. (2014) · PLoS ONE · doi:10.1371/journal.pone.0091773 · Cited by 81 · see citing works
Self-citationWhole genome association scan for genetic polymorphisms influencing information processing speed
Michelle Luciano, A., Hansell, N. K., Lahti, J. M. T., Davies, G., Medland, S. E., Räikkönen, K., Tenesa, A., Widén, E., McGhee, K. A., Palotie, A. V., et al. (2010) · Biological Psychology · doi:10.1016/j.biopsycho.2010.11.008 · Cited by 78 · see citing works
Lai, D., Wetherill, L. F., Bertelsen, S. E., Carey, C. E., Kamarajan, C., Kapoor, M., Meyers, J. L., Anokhin, A. P., Bennett, D. A., Bucholz, K. K., et al. (2019) · Genes Brain & Behavior · doi:10.1111/gbb.12579 · Cited by 71 · see citing works
Clifford, R. E., Maihofer, A. X., Stein, M. B., Ryan, A. F., & Nievergelt, C. M. (2020) · JAMA Otolaryngology–Head & Neck Surgery · doi:10.1001/jamaoto.2020.2920 · Cited by 64 · see citing works
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.006 · Cited by 63 · see citing works
Lee, T., Mosing, M. A., Henry, J. D., Trollor, J. N., Ames, D. J., Martin, N. G., Wright, M. J., & Sachdev, P. S. (2012) · Behavior Genetics · doi:10.1007/s10519-012-9526-1 · Cited by 63 · see citing works
Neuropsychological effects of the CSMD1 genome‐wide associated schizophrenia risk variant rs10503253
Donohoe, G. J., Walters, J., Hargreaves, A., Rose, E. J., Morris, D. W., Fahey, C., Bellini, S., Cummins, E., Giegling, I., Hartmann, A. M., et al. (2013) · Genes Brain & Behavior · doi:10.1111/gbb.12016 · Cited by 55 · see citing works
Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception
Bartholomew, A. J., Meck, W. H., & Cirulli, E. T. (2015) · PLoS ONE · doi:10.1371/journal.pone.0143873 · Cited by 55 · see citing works
Self-citationGene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases
Nakka, P., Raphael, B. J., & Ramachandran, S. (2016) · Genetics · doi:10.1534/genetics.116.188391 · Cited by 55 · see citing works
Language control abilities of late bilinguals
Festman, J. (2011) · Bilingualism Language and Cognition · doi:10.1017/s1366728911000344 · Cited by 52 · see citing works
LeBlanc, M., Kulle, B., Sundet, K. S., Agartz, I., Melle, I. S., Djurovic, S., Frigessi, A., & Andreassen, O. A. (2011) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2011.11.001 · Cited by 48 · see citing works
Lee, T., Crawford, J. D., Henry, J. D., Trollor, J. N., Kochan, N. A., Wright, M. J., Ames, D. J., Brodaty, H., & Sachdev, P. S. (2012) · Neuropsychology · doi:10.1037/a0030053 · Cited by 47 · see citing works
The morphometry of left cuneus mediating the genetic regulation on working memory
He, X., Li, X., Fu, J., Xu, J., Liu, H., Zhang, P., Liu, R., Yu, C., Ye, Z., & Qin, W. (2021) · Human Brain Mapping · doi:10.1002/hbm.25446 · Cited by 38 · see citing works
Dickinson, D., Straub, R. E., Trampush, J. W., Gao, Y., Feng, N., Xie, B., Shin, J. H., Lim, H. K., Ursini, G., Bigos, K. L., et al. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.157 · Cited by 37 · see citing works
Altered expression of the CSMD1 gene in the peripheral blood of schizophrenia patients
Liu, Y., Fu, X., Tang, Z., Li, C., Xu, Y. J., Zhang, F., Zhou, D., & Zhu, C. (2019) · BMC Psychiatry · doi:10.1186/s12888-019-2089-4 · Cited by 37 · see citing works
Creative Activities in Music – A Genome-Wide Linkage Analysis
Oikkonen, J., Kuusi, T., Peltonen, P., Raijas, P., Ukkola‐Vuoti, L., Karma, K., Onkamo, P., & Järvelä, I. E. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148679 · Cited by 37 · see citing works
Neural effects of the CSMD 1 genome‐wide associated schizophrenia risk variant rs10503253
Rose, E. J., Morris, D. W., Hargreaves, A., Fahey, C., Greene, C. M., Garavan, H., Gill, M., Corvin, A. P., & Donohoe, G. J. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32182 · Cited by 32 · see citing works
Mozhui, K., Wang, X., Chen, J., Mulligan, M. K., Li, Z. A., Ingles, J., Chen, X., Lü, L., & Williams, R. W. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.24 · Cited by 32 · see citing works
Heritability and genetic association analysis of cognition in the Diabetes Heart Study
Cox, A. J., Hugenschmidt, C. E., Raffield, L. M., Langefeld, C. D., Freedman, B. I., Williamson, J. D., Hsu, F., & Bowden, D. W. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.03.005 · Cited by 30 · see citing works
Pharmacogenetics of Second-Generation Antipsychotics
Brennan, M. D. (2014) · Pharmacogenomics · doi:10.2217/pgs.14.50 · Cited by 30 · see citing works
A systematic eQTL study of cis–trans epistasis in 210 HapMap individuals
Becker, J., Wendland, J. R., Haenisch, B., Nöthen, M. M., & Schumacher, J. H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.156 · Cited by 29 · see citing works
A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework
Sarovic, D. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.767075 · Cited by 26 · see citing works
Bartholomew, A. J., Lad, E. M., Cao, D., Bach, M., & Cirulli, E. T. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148192 · Cited by 23 · see citing works
Self-citationBruce, H. A., Kochunov, P. V., Paciga, S. A., Hyde, C. L., Chen, X., Zhi, X., Zhang, B., Xi, H. S., O’Donnell, P., Whelan, C. D., et al. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12372 · Cited by 24 · see citing works
Wang, G., Guo, C. H., Zhao, H., Pan, Z., Zhu, F., Zhang, L., & Wang, Q. (2018) · BMC Cancer · doi:10.1186/s12885-018-4177-0 · Cited by 24 · see citing works
Genome-Wide Analyses of Working-Memory Ability: A Review
Knowles, E. E. M., Mathias, S. R., McKay, D., Sprooten, E., Blangero, J., Almasy, L. A., & Glahn, D. C. (2014) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-014-0028-8 · Cited by 21 · see citing works
Association study of genetic markers of schizophrenia and its cognitive endophenotypes
Бочарова, А. В., Степанов, В. А., Marusin, A. V., Харьков, В. Н., Вагайцева, К. В., Fedorenko, O. Y., Bokhan, N. A., Semke, A. V., & Ivanova, S. А. (2017) · Russian Journal of Genetics · doi:10.1134/s1022795417010033 · Cited by 20 · see citing works
Genetic influence alters the brain synchronism in perception and timing
Marinho, V., de Oliveira, A. T., Bandeira, J., Pinto, G. R., Gomes, A., Lima, V., Magalhães, F. E. X., Rocha, K. D. M., Ayres, C., Carvalho, V., et al. (2018) · Journal of Biomedical Science · doi:10.1186/s12929-018-0463-z · Cited by 20 · see citing works
Gonda, X., Eszlári, N., Török, D., Gál, Z., Bokor, J., Millinghoffer, A., Baksa, D., Petschner, P., Antal, P., Breen, G. D., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01436-1 · Cited by 19 · see citing works
Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs
Bhartiya, D., Jalali, S., Ghosh, S., & Scaria, V. (2013) · Human Mutation · doi:10.1002/humu.22472 · Cited by 17 · see citing works
Replicative study of susceptibility to childhood-onset schizophrenia in Kazakhs
Степанов, В. А., Бочарова, А. В., Saduakassova, K. Z., Marusin, A. V., Koneva, L. A., Вагайцева, К. В., & Svyatova, G. (2015) · Russian Journal of Genetics · doi:10.1134/s1022795415020143 · Cited by 18 · see citing works
A genome-wide association study of the longitudinal course of executive functions
Wendel, B., Papiol, S., Andlauer, T. F. M., Zimmermann, J., Wiltfang, J., Spitzer, C., Senner, F., Schulte, E. C., Schmauß, M., Schaupp, S. K., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01510-8 · Cited by 18 · see citing works
The Genetic Architecture of Amygdala Nuclei
Mufford, M. S., van der Meer, D., Kaufmann, T., Frei, O., Ramesar, R., Thompson, P. M., Jahanshad, N., Morey, R. A., Andreassen, O. A., Stein, D. J., et al. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.06.022 · Cited by 16 · see citing works
Genetics of cognitive control: Implications for Nimh's research domain criteria initiative
Glahn, D. C., Knowles, E. E. M., & Pearlson, G. D. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32345 · Cited by 16 · see citing works
Bol, S. M., Booiman, T., van Manen, D., Bunnik, E. M., van Sighem, A., Síeberer, M., Boeser‐Nunnink, B., de Wolf, F., Schuitemaker, H., Portegies, P., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030990 · Cited by 16 · see citing works
Resequencing Three Candidate Genes for Major Depressive Disorder in a Dutch Cohort
Verbeek, E. C., Bevova, M. R., Bochdanovits, Z., Rizzu, P., Bakker, I. M. C., Uithuisje, T., de Geus, E. J. C., Smit, J. H., Penninx, B. W. J. H., Boomsma, D. I., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0079921 · Cited by 16 · see citing works
Chen, C., Chen, C., Xue, G., Dong, Q., Zhao, L., & Zhang, S. (2020) · BMC Genetics · doi:10.1186/s12863-020-0819-8 · Cited by 17 · see citing works
Степанов, В. А., Бочарова, А. В., Marusin, A. V., Жукова, Н. Г., Alifirova, V. M., & Zhukova, I. A. (2014) · Molecular Biology · doi:10.1134/s0026893314060168 · Cited by 16 · see citing works
González‐Giraldo, Y., González-Reyes, R. E., & Forero, D. A. (2016) · Psychiatry Research · doi:10.1016/j.psychres.2016.01.006 · Cited by 16 · see citing works
Greenbaum, L., Ravona‐Springer, R., Livny, A., Shelly, S., Sharvit‐Ginon, I., Ganmore, I., Alkelai, A., Heymann, A. D., & Beeri, M. S. (2017) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2017.1366055 · Cited by 16 · see citing works
Multifactorial Modeling of Impairment of Evoked Gamma Range Oscillations in Schizophrenia
Metzner, C., Schweikard, A., & Zurowski, B. (2016) · Frontiers in Computational Neuroscience · doi:10.3389/fncom.2016.00089 · Cited by 15 · see citing works
Smith, L. M., Bartholomew, A. J., Burnham, L. E., Tillmann, B., & Cirulli, E. T. (2017) · Scientific Reports · doi:10.1038/s41598-017-16526-8 · Cited by 15 · see citing works
Self-citationPantzar, A., Laukka, E. J., Atti, A. R., Papenberg, G., Keller, L., Graff, C., Fratiglioni, L., & Bäckman, L. (2014) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2014.07.020 · Cited by 14 · see citing works
Targeted Pharmacogenetic Analysis of Antipsychotic Response in the CATIE Study
Liu, Q., Jamba, M., Patrick, C., Padmanabhan, S., & Brennan, M. D. (2012) · Pharmacogenomics · doi:10.2217/pgs.12.105 · Cited by 13 · see citing works
Neurogenetic effects on cognition in aging brains: a window of opportunity for intervention?
Reinvang, I. (2010) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2010.00143 · Cited by 13 · see citing works
Wang, F. L., Chassin, L., Lee, M., Haller, M. M., & King, K. M. (2016) · Journal of Research on Adolescence · doi:10.1111/jora.12270 · Cited by 14 · see citing works
Mosca, A., Sperduti, S., Pop, V., Ciavardelli, D., Granzotto, A., Punzi, M., Stuppia, L., Gatta, V., Assogna, F., Banaj, N., et al. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00092 · Cited by 13 · see citing works
Степанов, В. А., Вагайцева, К. В., Бочарова, А. В., Marusin, A. V., Markova, V. V., Minaycheva, L. I., & Makeeva, O. A. (2018) · International Journal of Alzheimer s Disease · doi:10.1155/2018/2686045 · Cited by 12 · see citing works
Effects of the long and short isoforms of TIPE3 on the growth and metastasis of gastric cancer
Gao, J.-F., Zhang, H., Lv, J., Fan, Y.-Y., Feng, D., & Song, L. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.109853 · Cited by 12 · see citing works
Степанов, В. А., Marusin, A. V., Вагайцева, К. В., Бочарова, А. В., & Makeeva, O. A. (2017) · Genetics Research International · doi:10.1155/2017/6293826 · Cited by 11 · see citing works
Quilter, C. R., Sargent, C. A., Bauer, J., Bagga, M., Reiter, C., Hutchinson, E. L., Southwood, O. I., Evans, G., Mileham, A. J., Griffin, D. K., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32097 · Cited by 10 · see citing works
Multifactoriality in Psychiatric Disorders: A Computational Study of Schizophrenia
Pavão, R., Tort, A. B. L., & Amaral, O. B. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu146 · Cited by 9 · see citing works
Whole exome association of rare deletions in multiplex oral cleft families
Fu, J. M., Beaty, T. H., Scott, A. F., Hetmanski, J. B., Parker, M. M., Bailey‐Wilson, J. E., Marazita, M. L., Mangold, E., Albacha‐Hejazi, H., Murray, J. C., et al. (2016) · Genetic Epidemiology · doi:10.1002/gepi.22010 · Cited by 9 · see citing works
Farias, T. L., Marinho, V., Carvalho, V., Rocha, K. D. M., da Silva, P. R. A., Silva, F. J. D. C., Teles, A. S., Gupta, D. S., Ribeiro, P. F. M., Velasques, B., et al. (2019) · Neurological Sciences · doi:10.1007/s10072-018-3699-1 · Cited by 10 · see citing works
Cirulli, E. T., Attix, D. K., Smith, P. J., Chiba‐Falek, O., Pennuto, T. O., Linney, K. N., & Goldstein, D. B. (2011) · The Clinical Neuropsychologist · doi:10.1080/13854046.2011.578587 · Cited by 8 · see citing works
Self-citationRocha, K. D. M., Marinho, V., Magalhães, F. E. X., Ribeiro, J. A., de Oliveira, A. T., Gupta, D. S., Chaves, F., Velasques, B., Ribeiro, P. F. M., Cagy, M., et al. (2018) · International Journal of Neuroscience · doi:10.1080/00207454.2018.1476351 · Cited by 7 · see citing works
АНАЛИЗ АССОЦИАЦИЙ ГЕНЕТИЧЕСКИХ МАРКЕРОВ ШИЗОФРЕНИИ И ЕЕ КОГНИТИВНЫХ ЭНДОФЕНОТИПОВ, "Генетика"
Бочарова, А. В., Степанов, В. А., Marusin, A. V., Харьков, В. Н., Вагайцева, К. В., Федоренко, О. Ю., Bokhan, N. A., Semke, A. V., & Ivanova, S. А. (2017) · Генетика · doi:10.7868/s0016675817010039 · Cited by 6 · see citing works
Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study
Ochs‐Balcom, H. M., Shaw, H., Preus, L. M., Palmer, J. R., Haddad, S. A., Rosenberg, L. A., & Ruiz-Narváez, E. (2018) · Human Genetics · doi:10.1007/s00439-018-1908-x · Cited by 6 · see citing works
Neurocognitive Impairment and Associated Genetic Aspects in HIV Infection
Gómez, D., Power, C., & Fujiwara, E. (2018) · Current topics in behavioral neurosciences · doi:10.1007/7854_2018_69 · Cited by 5 · see citing works
Silva, P. R., Marinho, V., Magalhães, F., Farias, T., Gupta, D., Barbosa, A. L. R., Velasques, B., Ribeiro, P., Cagy, M., Bastos, V., et al. (2022) · Consciousness and Cognition · doi:10.1016/j.concog.2022.103317 · Cited by 5 · see citing works
Rare Genetic Variants Correlate with Better Processing Speed
Song, Z., Gurinovich, A., Nygaard, M., Mengel‐From, J., Andersen, S. L., Cosentino, S., Schupf, N., Lee, J. J., Zmuda, J. M., Ukraintseva, S. V., et al. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.11.018 · Cited by 5 · see citing works
The eclipse of heritability and the foundations of intelligence
Richardson, K. (2012) · New Ideas in Psychology · doi:10.1016/j.newideapsych.2012.08.002 · Cited by 4 · see citing works
Schizophrénie, génétique et cognition
Belzeaux-R, R., Ibrahim, E. C., Fakra, É., Adida, M., Cermolacce, M., & Azorin, J. (2011) · L Encéphale · doi:10.1016/s0013-7006(11)70039-2 · Cited by 4 · see citing works
Marinho, V., Pinto, G. R., Figueiredo, R., Ayres, C., Bandeira, J., & Teixeira, S. S. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1212-1 · Cited by 3 · see citing works
Dueker, N., Wang, L., Gardener, H. E., Gomez, L., Kaur, S., Beecham, A. H., Blanton, S. H., Dong, C., Gutierrez, J., Cheung, Y. K. K., et al. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.11.016 · Cited by 3 · see citing works
Raistrick, C. A., Alharbi, K. K., Day, I. N. M., & Gaunt, T. R. (2011) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2011.00677.x · Cited by 2 · see citing works
Gaetano, C. D., Matullo, G., Piazza, A., Ursino, M., & Gasparini, M. (2013) · Evolutionary Bioinformatics · doi:10.4137/ebo.s10211 · Cited by 2 · see citing works
Genetics of Brain and Cognition and Their Interactions with Dietary and Environmental Factors
Ordovás, J. M. (2015) · CRC Press eBooks · doi:10.1201/b18563-5 · Cited by 2 · see citing works
Степанов, В. А., Бочарова, А. В., Вагайцева, К. В., Marusin, A. V., Markova, V. V., Минайчева, Л. И., Zhukova, I. A., Zhukova, N., Alifirova, V. M., & Makeeva, O. A. (2018) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro20181185192 · Cited by 2 · see citing works
Бочарова, А. В., & Степанов, В. А. (2021) · Russian Journal of Genetics · doi:10.1134/s1022795421080020 · Cited by 2 · see citing works
The adaptor protein SKT interacts with PSD-95 and SHANK3 and affects synaptic functions
Morellato, A., Gregorio, M. D., Angelini, C., Torelli, F., Belmonte, V., Alfieri, A., Bersia, B., Cravero, T., Gai, M., Bianciotto, O. T., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116206 · Cited by 1 · see citing works
Вагайцева, К. В., Бочарова, А. В., Marusin, A. V., Kolesnikova, E. A., Makeeva, O. A., & Степанов, В. А. (2018) · Russian Journal of Genetics · doi:10.1134/s1022795418060121 · Cited by 1 · see citing works
Association of low-frequency and rare coding variants with information processing speed
Bressler, J., Davies, G., Smith, A. V., Saba, Y., Bis, J. C., Jian, X., Hayward, C., Yanek, L. R., Smith, J. A., Mirza, S. S., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01736-6 · Cited by 1 · see citing works
Genetic studies of the common epilepsies: genome-wide association studies in the partial epilepsies
Catarino, C. B. (2014) · UCL Discovery (University College London) · Cited by 1 · see citing works
Genetic Determinants of Cognitive Function and Age-Related Brain Changes
Schuur, M. (2010) · RePub (Erasmus University Rotterdam)
Common and rare genetic risk factors for schizophrenia and their associations with cognition
Hubbard, L. (2014) · ORCA Online Research @Cardiff (Cardiff University)
Cirulli, E. T. (2010) · DukeSpace (Duke University)
Self-citationNon-Traditional Approaches to Interrogating Genome-Wide SNP Data
Howrigan, D. P. (2012) · CU Scholar (University of Colorado Boulder)
Exploring the aetiology of ADHD : rater effects, co-occurring traits and polygenic scores
Merwood, A. (2013) · Research Portal (King's College London)
Cognitive training through DVD: Working memory task as a tool for rehabilitation in elders
Marques, V. D. S., Soutinho, L. A. R., Marins, M., Marinho, V., Teixeira, S. S., Bastos, V. H., & Orsini, M. (2018) · Clinical Practice · doi:10.4172/clinical-practice.1000431
VNTR Polymorphisms in the SLC6A3 Gene and Their Impact on Time Perception and EEG Activity
Marinho, F. V. C., Teixeira, S., Pinto, G. R., de Oliveira, T., Yoshioka, F., Fernandes, H., Miranda, A., Velasques, B., Silva, A. P. R. D. S. E., Cagy, M., et al. (2025) · Bioengineering · doi:10.3390/bioengineering12101118
Genome-Wide Association Analysis of Major Depressive Disorder and Its Related Phenotypes.
Aragam, N. (2011) · Digital Commons - East Tennessee State University (East Tennessee State University)
- Authors
- Cirulli, E. T., Kasperavičiūtė, D., Attix, D. K., Need, A. C., Ge, D., Gibson, G., & Goldstein, D. B.
- Affiliations
- Duke University (US)
- Duke Medical Center (US)
- Georgia Institute of Technology (US)
- Corresponding author
- Goldstein, David B
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2010-02-03
- Volume
- 18
- Issue
- 7
- Pages
- 815-820
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC2987367
- OpenAlex
- W2031188085
- Cited by
- 98
- References
- 52
- Citations by year
- 2025: 2 · 2023: 2 · 2022: 3 · 2021: 6 · 2020: 3 · 2019: 4 · 2018: 12 · 2017: 6 · 2016: 7 · 2015: 8 · 2014: 12 · 2013: 9 · 2012: 7
- FWCI
- 5.93
- Type
- journal article
- Language
- en
- Update notices
- erratum (2010-06-17)
- Open access
- bronze
- doi.org
- Locations
- European Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Cognitive Abilities and Testing
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- common genetic variants, cognitive performance, executive function, endophenotypes, schizophrenia, digit symbol test, Stroop task, genome-wide association study, psychiatric genetics, genetic heterogeneity, rare variants
- MeSH terms
- Adult, Cognition, Female, Humans, Male, Neuropsychological Tests, Reference Standards, Genetic Variation, Polymorphism, Single Nucleotide, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
