CNVs conferring risk of autism or schizophrenia affect cognition in controls

Nature

Volumn 505, Issue 7483, 2014, Pages 361-366

  Stefansson, Hreinn ^a   Meyer Lindenberg, Andreas ^b   Steinberg, Stacy ^a   Magnusdottir, Brynja ^c   Morgen, Katrin ^b   Arnarsdottir, Sunna ^a,c   Bjornsdottir, Gyda ^a   Walters, G Bragi ^a   Jonsdottir, Gudrun A ^a   Doyle, Orla M ^d   Tost, Heike ^b   Grimm, Oliver ^b   Kristjansdottir, Solveig ^a   Snorrason, Heimir ^a   Davidsdottir, Solveig R ^c   Gudmundsson, Larus J ^a   Jonsson, Gudbjorn F ^a   Stefansdottir, Berglind ^a   Helgadottir, Isafold ^c   Haraldsson, Magnus ^c,e   Jonsdottir, Birna ^f   Thygesen, Johan H ^g   Schwarz, Adam J ^h   Didriksen, Michael ⁱ   Stensbøl, Tine B ⁱ   Brammer, Michael ^d   Kapur, Shitij ^d   Halldorsson, Jonas G ^e   Hreidarsson, Stefan ^j   Saemundsen, Evald ^e,j   Sigurdsson, Engilbert ^c,e   Stefansson, Kari ^a   more..

^a DECODE GENETICS   (Iceland)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF ICELAND   (Iceland)

^f Röntgen Domus ^*  (Iceland)

^g Mental Health Services CPH   (Denmark)

^h ELI LILLY AND COMPANY   (United States)

ⁱ H LUNDBECK A S   (Denmark)

^j State Diagnostic and Counselling Centre   (Iceland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN; CHROMOSOME; COGNITION; CORRELATION; DISEASE PREVALENCE; FECUNDITY; FRACTIONATION; PATHOGENICITY; POPULATION STRUCTURE; RISK FACTOR;

ADULT; ARTICLE; ATTENTION; AUTISM; CHROMOSOME 15Q; CHROMOSOME DELETION; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; COPY NUMBER VARIATION; DYSCALCULIA; DYSLEXIA; EXECUTIVE FUNCTION; FEMALE; GLOBAL ASSESSMENT OF FUNCTIONING; HUMAN; ICELAND; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; SCHIZOPHRENIA; SPATIAL LEARNING; WORKING MEMORY;

ADOLESCENT; ADULT; AGED; AUTISTIC DISORDER; BRAIN; CASE-CONTROL STUDIES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN; CHROMOSOMES, HUMAN, PAIR 15; COGNITION; DNA COPY NUMBER VARIATIONS; DYSLEXIA; FEMALE; FERTILITY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; ICELAND; LEARNING DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; SCHIZOPHRENIA; YOUNG ADULT;

ICELAND;

EID: 84892620880     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature12818     Document Type: Article

References (48)

1. Stefansson, H. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232-236 (2008)
2. Kirov, G. et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol. Psychiatry (2013)
3. Malhotra, D.& Sebat, J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 148, 1223-1241 (2012)
4. Haukka, J., Suvisaari, J. & Lonnqvist, J. Fertility of patients with schizophrenia, their siblings, and the general population: a cohort study from1950 to 1959 in Finland. Am. J. Psychiatry 160, 460-463 (2003)
5. Sheehan, D. V. et al. The Mini-International Neuropsychiatric Interview (M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10. J. Clin. Psychiatry 59 (Suppl. 20), 22-33, quiz 34-57 (1998)
6. Meins, W., Jacobsen, G. & Stratmann, C. Social adjustment of psychiatric patients: evaluation of a modified version of the GAF (Global Assessment of Functioning) Scale. [in German with English abstract] Psychiatr. Prax. 22, 206-208 (1995)
7. Sitskoorn, M. M., Aleman, A., Ebisch, S. J., Appels, M. C. & Kahn, R. S. Cognitive deficits in relatives of patients with schizophrenia: a meta-analysis. Schizophr. Res. 71, 285-295 (2004)
8. Snitz, B. E., Macdonald, A. W., III & Carter, C. S. Cognitive deficits in unaffected firstdegree relatives of schizophrenia patients: a meta-analytic review of putative endophenotypes. Schizophr. Bull. 32, 179-194 (2006)
9. Mesholam-Gately, R. I., Giuliano, A. J., Goff, K. P., Faraone, S. V. & Seidman, L. J. Neurocognition in first-episode schizophrenia: a meta-analytic review. Neuropsychology 23, 315-336 (2009)
10. Rund, B. R. A review of longitudinal studies of cognitive functions in schizophrenia patients. Schizophr. Bull. 24, 425-435 (1998)
11. Bjornsdottir, G. et al. The adult reading history questionnaire (ARHQ) in Icelandic: psychometric properties and factor structure. J. Learn. Disabil. (2013)
12. Lefly, D. L. & Pennington, B. F. Reliability and validity of the adult reading history questionnaire. J. Learn. Disabil. 33, 286-296 (2000)
13. Jacquemont, S. et al. Mirror extremeBMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478, 97-102 (2011)
14. Weiss, L. A. et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667-675 (2008)
15. McCarthy, S. E. et al. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genet. 41, 1223-1227 (2009)
16. Park, S. & Holzman, P. S. Schizophrenics show spatial working memory deficits. Arch. Gen. Psychiatry 49, 975-982 (1992)
17. Doornbos, M. et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur. J. Med. Genet. 52, 108-115 (2009)
18. Burnside, R. D. et al. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum. Genet. 130, 517-528 (2011)
19. de Kovel, C. G. et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010)
20. WorldHealth Organization. ICD-10: International Statistical Classification of Diseases and Related Health Problems 10th edn (WHO, 2008)
21. Radua, J. et al. Multimodal meta-analysis of structural and functional brain changes in first episode psychosis and the effects of antipsychotic medication. Neurosci. Biobehav. Rev. 36, 2325-2333 (2012)
22. Diorio, D., Viau, V.&Meaney, M. J.Therole of themedial prefrontal cortex (cingulate gyrus) in the regulation of hypothalamic-pituitary-adrenal responses to stress. J. Neurosci. 13, 3839-3847 (1993)
23. Lederbogen, F. et al. City living and urban upbringing affect neural social stress processing in humans. Nature 474, 498-501 (2011)
24. Seeley, W. W. et al. Dissociable intrinsic connectivity networks for salience processing and executive control. J. Neurosci. 27, 2349-2356 (2007)
25. Palaniyappan, L. & Liddle, P. F. Does the salience network play a cardinal role in psychosis? An emerging hypothesis of insular dysfunction. J. Psychiatry Neurosci. 37, 17-27 (2012)
26. Bora, E. et al. Neuroanatomical abnormalities in schizophrenia: a multimodal voxelwisemeta-analysis andmeta-regression analysis. Schizophr. Res.127,46-57 (2011)
27. Arnone, D., McIntosh, A. M., Tan, G. M. & Ebmeier, K. P. Meta-analysis of magnetic resonance imaging studies of the corpus callosum in schizophrenia. Schizophr. Res. 101, 124-132 (2008)
28. Tan, G. M., Arnone, D., McIntosh, A. M. & Ebmeier, K. P. Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr. Res. 115, 173-181 (2009)
29. Linkersdö rfer, J., Lonnemann, J., Lindberg, S., Hasselhorn, M. & Fiebach, C. J. Grey matter alterations co-localize with functional abnormalities in developmental dyslexia: an ALE meta-analysis. PLoS ONE 7, e43122 (2012)
30. Rotzer, S. et al. Optimized voxel-based morphometry in children with developmental dyscalculia. Neuroimage 39, 417-422 (2008)
31. Hall, R. C. Global assessment of functioning. A modified scale. Psychosomatics 36, 267-275 (1995)
32. Wechsler, D. Wechsler Memory Scale 3rd edn (Harcourt Brace and Company, 1997)
33. Benton, A. H. K. Multilingual Aphasia Examination (AJA Associates, 1989)
34. Morris, J. C. et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part I. Clinical and neuropsychological assessment of Alzheimer's disease. Neurology 39, 1159-1165 (1989)
35. Stroop, J. R. Studies of interference in seral verbal reactions. J. Exp. Psychol. 18, 643-662 (1935)
36. Reitan, R. M. Validity of the trail making test as an indicator of organic brain damage. Percept. Mot. Skills 8, 271-276 (1958)
37. Berg, E. A. A simple objective test for measuring flexibility in thinking. J. Gen. Psychol. 39, 15-22 (1948)
38. Owen, A. M., Downes, J. J., Sahakian, B. J., Polkey, C. E. & Robbins, T. W. Planning and spatial working memory following frontal lobe lesions in man. Neuropsychologia 28, 1021-1034 (1990)
39. Sahakian, B., Jones, G., Levy, R., Gray, J. & Warburton, D. The effects of nicotine on attention, information processing, and short-term memory in patients with dementia of the Alzheimer type. Brit. J. Psychiatry 154, 797-800 (1989)
40. Wechsler, D. Wechsler Abbreviated Scale of Intelligence (Harcourt Brace and Company, 1999)
41. Wang, K. et al. PennCNV: an integrated hidden Markov model designed for highresolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 17, 1665-1674 (2007)
42. Hall, R. C. & Parks, J. The modified global assessment of functioning scale: addendum. Psychosomatics 36, 416-417 (1995)
43. Golden, C. J. The Stroop color word test (Stoelting Company, 1978)
44. Heaton, R., Chelune, G., Talley, J., Kay, G. & Curtis, G. Wisconsin Card Sorting Test manual (Psychological Assessment Resources, 1993)
45. Feigenbaum, J. D., Polkey, C. E. & Morris, R. G. Deficits in spatial working memory after unilateral temporal lobectomy in man. Neuropsychologia 34, 163-176 (1996)
46. Ashburner, J.&Friston,K. J. Unified segmentation. Neuroimage 26,839-851(2005)
47. Manjó n, J. V., Coupe, P., Marti-Bonmati, L., Collins, D. L. & Robles, M. Adaptive nonlocal means denoising of MR images with spatially varying noise levels. J. Magn. Reson. Imaging 31, 192-203 (2010)
48. Ashburner, J. A fast diffeomorphic image registration algorithm. Neuroimage 38, 95-113 (2007).