Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders.


Journal

Genes, brain, and behavior
ISSN: 1601-183X
Titre abrégé: Genes Brain Behav
Pays: England
ID NLM: 101129617

Informations de publication

Date de publication:
07 2020
Historique:
received: 22 02 2019
revised: 28 01 2020
accepted: 24 02 2020
pubmed: 29 2 2020
medline: 17 7 2021
entrez: 29 2 2020
Statut: ppublish

Résumé

Reading disabilities (RD) are the most common neurocognitive disorder, affecting 5% to 17% of children in North America. These children often have comorbid neurodevelopmental/psychiatric disorders, such as attention deficit/hyperactivity disorder (ADHD). The genetics of RD and their overlap with other disorders is incompletely understood. To contribute to this, we performed a genome-wide association study (GWAS) for word reading. Then, using summary statistics from neurodevelopmental/psychiatric disorders, we computed polygenic risk scores (PRS) and used them to predict reading ability in our samples. This enabled us to test the shared aetiology between RD and other disorders. The GWAS consisted of 5.3 million single nucleotide polymorphisms (SNPs) and two samples; a family-based sample recruited for reading difficulties in Toronto (n = 624) and a population-based sample recruited in Philadelphia [Philadelphia Neurodevelopmental Cohort (PNC)] (n = 4430). The Toronto sample SNP-based analysis identified suggestive SNPs (P ~ 5 × 10

Identifiants

pubmed: 32108986
doi: 10.1111/gbb.12648
doi:

Substances chimiques

CCNT1 protein, human 0
Cyclin T 0
RNA, Long Noncoding 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e12648

Subventions

Organisme : CIHR
ID : MOP-133440
Pays : Canada

Informations de copyright

© 2020 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Références

Shaywitz SE, Shaywitz BA, Fletcher JM, Escobar MD. Prevalence of reading disability in boys and girls. Results of the Connecticut longitudinal study. JAMA. 1990;264(8):998-1002.
Shaywitz SE, Shaywitz BA. Dyslexia (specific reading disability). Biol Psychiatry. 2005;57(11):1301-1309.
Katusic SK, Colligan RC, Barbaresi WJ, Schaid DJ, Jacobsen SJ. Incidence of reading disability in a population-based birth cohort, 1976-1982, Rochester, Minn. Mayo Clin Proc. 2001;76(11):1081-1092.
Perfetti CA. Reading Ability. New York, NY: Oxford Press; 1985.
Lyon GR, Part I. Defining dyslexia, comorbidity, teachers' knowledge of language and Reading. Ann Dyslexia. 2003;53:1-14.
Ramus F, Rosen S, Dakin SC, et al. Theories of developmental dyslexia: insights from a multiple case study of dyslexic adults. Brain. 2003;126(Pt 4):841-865.
Lovett MW, Steinbach KA, Frijters JC. Remediating the core deficits of developmental reading disability: a double deficit perspective. J Learn Disabil. 2000;33(4):334-358.
Lovett M, Steinbach KA. The effectiveness of remedial programs for reading disabled children of different ages: does the benefit decrease for older children? Learn Disabil Q. 1997;20:189-210.
Smart D, Youssef GJ, Sanson A, Prior M, Toumbourou JW, Olsson CA. Consequences of childhood reading difficulties and behaviour problems for educational achievement and employment in early adulthood. Br J Educ Psychol. 2017;87(2):288-308.
Gooch D, Hulme C, Nash HM, Snowling MJ. Comorbidities in preschool children at family risk of dyslexia. J Child Psychol Psychiatry. 2014;55(3):237-246.
Willcutt EG, Pennington BF. Psychiatric comorbidity in children and adolescents with reading disability. J Child Psychol Psychiatry. 2000;41(8):1039-1048.
McArthur GM, Hogben JH, Edwards VT, Heath SM, Mengler ED. On the "specifics" of specific reading disability and specific language impairment. J Child Psychol Psychiatry. 2000;41(7):869-874.
Germano E, Gagliano A, Curatolo P. Comorbidity of ADHD and dyslexia. Dev Neuropsychol. 2010;35(5):475-493.
Willcutt EG, Betjemann RS, McGrath LM, et al. Etiology and neuropsychology of comorbidity between RD and ADHD: the case for multiple-deficit models. Cortex. 2010;46(10):1345-1361.
Willcutt EG, Pennington BF, DeFries JC. Etiology of inattention and hyperactivity/impulsivity in a community sample of twins with learning difficulties. J Abnorm Child Psychol. 2000;28(2):149-159.
Pennington BF, Bishop DV. Relations among speech, language, and reading disorders. Annu Rev Psychol. 2009;60:283-206.
Pauc R. The occurrence, identification and treatment of convergence failure in children with dyslexia dyspraxia, attention deficit disorder (ADD), attention deficit hyperactive disorder (AD/HD), obsessive compulsive disorder (OCD) and Tourette's syndrome. Clin Chiropract. 2008;11:130-137.
Cederlof M, Maughan B, Larsson H, D'Onofrio BM, Plomin R. Reading problems and major mental disorders-co-occurrences and familial overlaps in a Swedish nationwide cohort. J Psychiatr Res. 2017;91:124-129.
Russell G, Ryder D, Norwich B, Ford T. Behavioural difficulties that co-occur with specific word reading difficulties: a UK population-based cohort study. Dyslexia. 2015;21(2):123-141.
Carroll JM, Maughan B, Goodman R, Meltzer H. Literacy difficulties and psychiatric disorders: evidence for comorbidity. J Child Psychol Psychiatry. 2005;46(5):524-532.
Hendren RL, Haft SL, Black JM, White NC, Hoeft F. Recognizing psychiatric comorbidity with reading disorders. Front Psych. 2018;9:101.
Mammarella IC, Ghisi M, Bomba M, et al. Anxiety and depression in children with nonverbal learning disabilities, reading disabilities, or typical development. J Learn Disabil. 2016;49(2):130-139.
Revheim N, Corcoran CM, Dias E, et al. Reading deficits in schizophrenia and individuals at high clinical risk: relationship to sensory function, course of illness, and psychosocial outcome. Am J Psychiatry. 2014;171(9):949-959.
Fisher SE, DeFries JC. Developmental dyslexia: genetic dissection of a complex cognitive trait. Nat Rev Neurosci. 2002;3(10):767-780.
Friend A, DeFries JC, Wadsworth SJ, Olson RK. Genetic and environmental influences on word recognition and spelling deficits as a function of age. Behav Genet. 2007;37(3):477-486.
Gayan J, Olson RK. Genetic and environmental influences on orthographic and phonological skills in children with reading disabilities. Dev Neuropsychol. 2001;20(2):483-507.
Knopik VS, Smith SD, Cardon L, et al. Differential genetic etiology of reading component processes as a function of IQ. Behav Genet. 2002;32(3):181-198.
Harlaar N, Spinath FM, Dale PS, Plomin R. Genetic influences on early word recognition abilities and disabilities: a study of 7-year-old twins. J Child Psychol Psychiatry. 2005;46(4):373-384.
Wray NR, Lee SH, Mehta D, Vinkhuyzen AA, Dudbridge F, Middeldorp CM. Research review: polygenic methods and their application to psychiatric traits. J Child Psychol Psychiatry. 2014;55(10):1068-1087.
Rabin M, Wen XL, Hepburn M, Lubs HA, Feldman E, Duara R. Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet. 1993;342(8864):178.
Grigorenko EL, Wood FB, Meyer MS, Pauls JE, Hart LA, Pauls DL. Linkage studies suggest a possible locus for developmental dyslexia on chromosome 1p. Am J Med Genet. 2001;105(1):120-129.
Tzenova J, Kaplan BJ, Petryshen TL, Field LL. Confirmation of a dyslexia susceptibility locus on chromosome 1p34-p36 in a set of 100 Canadian families. Am J Med Genet B Neuropsychiatr Genet. 2004;127(1):117-124.
Luciano M, Lind PA, Duffy DL, et al. A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry. 2007;26:26.
Couto JM, Gomez L, Wigg K, et al. The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. J Neurogenet. 2008;22(4):295-313.
Nopola-Hemmi J, Myllyluoma B, Voutilainen A, Leinonen S, Kere J, Ahonen T. Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family. Dev Med Child Neurol. 2002;44(9):580-586.
Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, et al. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet. 2005;1(4):e50.
Tran C, Wigg KG, Zhang K, et al. Association of the ROBO1 gene with reading disabilities in a family-based analysis. Genes Brain Behav. 2014;13(4):430-438.
Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC. Quantitative trait locus for reading disability on chromosome 6. Science. 1994;266(5183):276-279.
Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC. Quantitative trait locus for reading disability: correction [letter]. Science. 1995;268(5217):1553.
Gayan J, Olson RK. Reading disability: evidence for a genetic etiology. Eur Child Adolesc Psychiatry. 1999;8(Suppl 3):52-55.
Platko JV, Wood FB, Pelser I, et al. Association of reading disability on chromosome 6p22 in the Afrikaner population. Am J Med Genet B Neuropsychiatr Genet. 2008;147B(7):1278-1287.
Francks C, Paracchini S, Smith SD, et al. A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Am J Hum Genet. 2004;75(6):1046-1058.
Cope N, Harold D, Hill G, et al. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet. 2005;76(4):581-591.
Schumacher J, Anthoni H, Dahdouh F, et al. Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet. 2006;78(1):52-62.
Elbert A, Lovett MW, Cate-Carter T, Pitch A, Kerr EN, Barr CL. Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia. Behav Genet. 2011;41(1):77-89.
Couto JM, Livne-Bar I, Huang K, et al. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. Am J Med Genet. 2010;153B(2):447-462.
Smith SD, Kimberling WJ, Pennington BF, Lubs HA. Specific reading disability: identification of an inherited form through linkage analysis. Science. 1983;219(4590):1345-1347.
Chapman NH, Igo RP, Thomson JB, et al. Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q. Am J Med Genet B Neuropsychiatr Genet. 2004;131(1):67-75.
Grigorenko EL, Wood FB, Meyer MS, et al. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet. 1997;60(1):27-39.
Morris DW, Robinson L, Turic D, et al. Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Hum Mol Genet. 2000;9(5):843-848.
Wigg KG, Couto JM, Feng Y, et al. Support for EKN1 as the susceptibility locus for dyslexia on 15q21. Mol Psychiatry. 2004;9(12):1111-1121.
Tran C, Gagnon F, Wigg KG, et al. A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1. Am J Med Genet B Neuropsychiatr Genet. 2013;162B(2):146-156.
Nopola-Hemmi J, Taipale M, Haltia T, Lehesjoki AE, Voutilainen A, Kere J. Two translocations of chromosome 15q associated with dyslexia. J Med Genet. 2000;37(10):771-775.
Taipale M, Kaminen N, Nopola-Hemmi J, et al. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA. 2003;100(20):11553-11558.
Mascheretti S, Trezzi V, Giorda R, et al. Complex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples. J Child Psychol Psychiatry. 2017;58(1):75-82.
Rice ML, Smith SD, Gayan J. Convergent genetic linkage and associations to language, speech and reading measures in families of probands with specific language impairment. J Neurodev Disord. 2009;1(4):264-282.
Eicher JD, Stein CM, Deng F, et al. The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains. Genes Brain Behav. 2015;14(4):377-385.
Davies G, Lam M, Harris SE, et al. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nat Commun. 29, 2018;9(1):2098.
Christopher ME, Keenan JM, Hulslander J, et al. The genetic and environmental etiologies of the relations between cognitive skills and components of reading ability. J Exp Psychol Gen. 2016;145(4):451-466.
Brennand KJ, Simone A, Jou J, et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature. 2011;473(7346):221-225.
Iossifov I, Ronemus M, Levy D, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74(2):285-299.
Anitha A, Nakamura K, Yamada K, et al. Genetic analyses of roundabout (ROBO) axon guidance receptors in autism. Am J Med Genet B Neuropsychiatr Genet. 2008;147B(7):1019-1027.
Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics. 2006;7:118.
Kidd T, Brose K, Mitchell KJ, et al. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell. 1998;92(2):205-215.
Gonda Y, Andrews WD, Tabata H, et al. Robo1 regulates the migration and laminar distribution of upper-layer pyramidal neurons of the cerebral cortex. Cereb Cortex. 2013;23(6):1495-1508.
Poon MW, Tsang WH, Chan SO, Li HM, Ng HK, Waye MM. Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1. Cell Mol Neurobiol. 2011;31(1):27-35.
Wang Y, Paramasivam M, Thomas A, et al. DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience. 2006;143(2):515-522.
Meng H, Smith SD, Hager K, et al. DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci USA. 2005;102(47):17053-17058.
Paracchini S, Thomas A, Castro S, et al. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet. 2006;15(10):1659-1666.
Burbridge TJ, Wang Y, Volz AJ, et al. Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat. Neuroscience. 2008;152(3):723-733.
Demontis D, Walters RK, Martin J, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat Genet. 2019;51(1):63-75.
Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010;19(20):4072-4082.
Anney R, Klei L, Pinto D, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet. 2012;21(21):4781-4792.
Lesch KP, Timmesfeld N, Renner TJ, et al. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm (Vienna). 2008;115(11):1573-1585.
Grove J, Ripke S, Als TD, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019;51(3):431-444.
Cross-Disorder Group of the Psychiatric Genomics Consortium, Smoller JW, Craddock N, et al. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013;381(9875):1371-1379.
Bipolar D, Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address drve, Bipolar D, Schizophrenia Working Group of the Psychiatric Genomics C. Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell. 2018;173(7):1705-1715.
Wray NR, Ripke S, Mattheisen M, et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet. 2018;50(5):668-681.
Meaburn EL, Harlaar N, Craig IW, Schalkwyk LC, Plomin R. Quantitative trait locus association scan of early reading disability and ability using pooled DNA and 100K SNP microarrays in a sample of 5760 children. Mol Psychiatry. 2008;13(7):729-740.
Roeske D, Ludwig KU, Neuhoff N, et al. First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. Mol Psychiatry. 2011;16(1):97-107.
Field LL, Shumansky K, Ryan J, Truong D, Swiergala E, Kaplan BJ. Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. Genes Brain Behav. 2013;12(1):56-69.
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, et al. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Transl Psychiatry. 2019;9(1):77.
Luciano M, Montgomery GW, Martin NG, Wright MJ, Bates TC. SNP sets and reading ability: testing confirmation of a 10-SNP set in a population sample. Twin Res Hum Genet. 2011;14(3):228-232.
Luciano M, Evans DM, Hansell NK, et al. A genome-wide association study for reading and language abilities in two population cohorts. Genes Brain Behav. 2013;12(6):645-652.
Gialluisi A, Newbury DF, Wilcutt EG, et al. Genome-wide screening for DNA variants associated with reading and language traits. Genes Brain Behav. 2014;13(7):686-701.
Wright M, De Geus E, Ando J, et al. Genetics of cognition: outline of a collaborative twin study. Twin Res. 2001;4(1):48-56.
Golding J, Pembrey M, Jones R, Team AS. ALSPAC-the Avon longitudinal study of parents and children. I. Study methodology. Paediatr Perinat Epidemiol. 2001;15(1):74-87.
Conners CK. Conners' Rating Scales-Revised. Toronto, Canada: Multi-Health Systems, Inc.; 1997.
Boyle MH, Offord DR, Racine Y, Fleming JE, Szatmari P, Sanford M. Evaluation of the revised Ontario child health study scales. J Child Psychol Psychiatry. 1993;34(2):189-213.
Offord DR, Boyle MH, Racine Y. Ontario child health study: correlates of disorder. J Am Acad Child Adolesc Psychiatry. 1989;28(6):856-860.
Tannock R, Hum M, Masellis M, Humphries T, Schachar R. Teacher Telephone Interview for Children's Academic Performance, Attention, Behavior and Learning: DSM-IV Version (TTI-IV). Toronto, Canada.: The Hospital for Sick Children, Unpublished Document; 2002.
Wechsler D. Wechsler Intelligence Scale for Children-Third Edition. San Antonio, TX: Harcourt Brace & Co.; 1991.
Wechsler D. Wechsler Intelligence Scale for Children-Fourth Edition. San Antonio, TX: Psychological Corporation; 2003.
Weller EB, Weller RA, Fristad MA, Rooney MT, Schecter J. Children's interview for psychiatric syndromes (ChIPS). J Am Acad Child Adolesc Psychiatry. 2000;39(1):76-84.
Wilkinson GS. Wide Range Achievement Test 3-Revision 3. Wilmington, DE: Jastak Associates; 1993.
Wilkinson GS, Robertson GJ. Wide Range Achievement Test-Fourth Edition. Lutz, FL: Psychological Assessment Resources; 2006.
Moore TM, Reise SP, Gur RE, Hakonarson H, Gur RC. Psychometric properties of the Penn computerized neurocognitive battery. Neuropsychology. 2015;29(2):235-246.
Gur RC, Richard J, Calkins ME, et al. Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21. Neuropsychology. 2012;26(2):251-265.
Robinson EB, Kirby A, Ruparel K, et al. The genetic architecture of pediatric cognitive abilities in the Philadelphia neurodevelopmental cohort. Mol Psychiatry. 2015;20(4):454-458.
Calkins ME, Moore TM, Merikangas KR, et al. The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia neurodevelopmental cohort. World Psychiatry. 2014;13(3):296-305.
Gur RC, Calkins ME, Satterthwaite TD, et al. Neurocognitive growth charting in psychosis spectrum youths. JAMA Psychiat. 2014;71(4):366-374.
Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575.
Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc. 2010;5(9):1564-1573.
International HapMap C, Altshuler DM, Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 2010;467(7311):52-58.
Das S, Forer L, Schonherr S, et al. Next-generation genotype imputation service and methods. Nat Genet. 2016;48(10):1284-1287.
Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. 2010;34(8):816-834.
Roalf DR, Gur RE, Ruparel K, et al. Within-individual variability in neurocognitive performance: age- and sex-related differences in children and youths from ages 8 to 21. Neuropsychology. 2014;28(4):506-518.
Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM. Robust relationship inference in genome-wide association studies. Bioinformatics. 2010;26(22):2867-2873.
Dudbridge F, Gusnanto A. Estimation of significance thresholds for genomewide association scans. Genet Epidemiol. 2008;32(3):227-234.
Panagiotou OA, Ioannidis JP, Genome-Wide SP. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. Int J Epidemiol. 2012;41(1):273-286.
The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447(7145):661-678.
Hunter DJ, Kraft P, Jacobs KB, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39(7):870-874.
Hafler DA, Compston A, Sawcer S, et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med. 2007;357(9):851-862.
de Leeuw CA, Mooij JM, Heskes T, Posthuma D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol. 2015;11(4):e1004219.
Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190-2191.
Mishra A, MacGregor S. A novel approach for pathway analysis of GWAS data highlights role of BMP Signaling and muscle cell differentiation in colorectal cancer susceptibility. Twin Res Hum Genet. 2017;20(1):1-9.
Euesden J, Lewis CM, O'Reilly PF. PRSice: polygenic risk score software. Bioinformatics. 2015;31(9):1466-1468.
Choi SW, Mak TSHM, O'Reilly PF. A Guide to Performing Polygenic Risk Scores. Biorxiv Preprint. 2018.
Savage JE, Jansen PR, Stringer S, et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat Genet. 2018;50(7):912-919.
Lee JJ, Wedow R, Okbay A, et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat Genet. 2018;50(8):1112-1121.
Abrahams BS, Arking DE, Campbell DB, et al. SFARI gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism. 2013;4(1):36.
Gialluisi A, Visconti A, Willcutt EG, et al. Investigating the effects of copy number variants on reading and language performance. J Neurodev Disord. 2016;8:17.
Wilson PM, Fryer RH, Fang Y, Hatten ME. Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration. J Neurosci. 2010;30(25):8529-8540.
Zuko A, Kleijer KT, Oguro-Ando A, et al. Contactins in the neurobiology of autism. Eur J Pharmacol. 2013;719(1-3):63-74.
Shao Q, Yang T, Huang H, Alarmanazi F, Liu G. Uncoupling of UNC5C with polymerized TUBB3 in microtubules mediates Netrin-1 repulsion. J Neurosci. 2017;37(23):5620-5633.
Sakurai T. The role of NrCAM in neural development and disorders-beyond a simple glue in the brain. Mol Cell Neurosci. 2012;49(3):351-363.
Holahan MR. A shift from a pivotal to supporting role for the growth-associated protein (GAP-43) in the coordination of axonal structural and functional plasticity. Front Cell Neurosci. 2017;11:266.
Greven CU, Harlaar N, Dale PS, Plomin R. Genetic overlap between ADHD symptoms and Reading is largely driven by inattentiveness rather than hyperactivity-impulsivity. J Can Acad Child Adolesc Psychiatry. 2011;20(1):6-14.
Gilger JW, Pennington BF, DeFries JC. A twin study of the etiology of comorbidity: attention-deficit hyperactivity disorder and dyslexia. J Am Acad Child Adolesc Psychiatry. 1992;31(2):343-348.
Willcutt EG, Pennington BF, DeFries JC. Twin study of the etiology of comorbidity between reading disability and attention-deficit/hyperactivity disorder. Am J Med Genet. 2000;96(3):293-301.
Willcutt EG, Pennington BF, Olson RK, Defries JC. Understanding comorbidity: a twin study of reading disability and attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(6):709-714.
St Pourcain B, Cents RA, Whitehouse AJ, et al. Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nat Commun. Sep 16 2014;5:4831.
Matsson H, Tammimies K, Zucchelli M, et al. SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. Behav Genet. 2011;41(1):134-140.
Martin-Vilchez S, Whitmore L, Asmussen H, Zareno J, Horwitz R, Newell-Litwa K. RhoGTPase regulators orchestrate distinct stages of synaptic development. PLoS One. 2017;12(1):e0170464.
Zhang L, Luga V, Armitage SK, et al. A lateral signalling pathway coordinates shape volatility during cell migration. Nat Commun. 2016;2016(7):11714.
Geschwind N, Galaburda AM. Cerebral lateralization. Biological mechanisms, associations, and pathology: III. A hypothesis and a program for research. Arch Neurol. 1985;42(7):634-654.
Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N. Developmental dyslexia: four consecutive patients with cortical anomalies. Ann Neurol. 1985;18(2):222-233.
Chang BS, Ly J, Appignani B, et al. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005;64(5):799-803.
Sokol DK, Golomb MR, Carvahlo KS, Edwards-Brown M. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2006;66(2):294.
Dias J, Van Nguyen N, Georgiev P, et al. Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex. Genes Dev. 2014;28(9):929-942.
Koolen DA, Pfundt R, Linda K, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016;24(5):652-659.
Morgan AT, Haaften LV, van Hulst K, et al. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. Eur J Hum Genet. 2018;26(1):75-84.
Eising E, Carrion-Castillo A, Vino A, et al. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Mol Psychiatry. 2018;24:1065.
Shaywitz SE, Escobar MD, Shaywitz BA, Fletcher JM, Makuch R. Evidence that dyslexia may represent the lower tail of a normal distribution of reading ability. N Engl J Med. 1992;326(3):145-150.
Paracchini S, Steer CD, Buckingham LL, et al. Association of the KIAA0319 dyslexia susceptibility gene with Reading skills in the general population. Am J Psychiatry. 2008;165:1576.
Lind PA, Luciano M, Wright MJ, Montgomery GW, Martin NG, Bates TC. Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. Eur J Hum Genet. 2010;18(6):668-673.
Koiliari E, Roussos P, Pasparakis E, et al. The CSMD1 genome-wide associated schizophrenia risk variant rs10503253 affects general cognitive ability and executive function in healthy males. Schizophr Res. 2014;154(1-3):42-47.
Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511(7510):421-427.
Xu W, Cohen-Woods S, Chen Q, et al. Genome-wide association study of bipolar disorder in Canadian and UKpopulations corroborates disease loci including SYNE1 and CSMD1. BMC Med Genet. 2014;15:2.
Ramsden S, Richardson FM, Josse G, Shakeshaft C, Seghier ML, Price CJ. The influence of reading ability on subsequent changes in verbal IQ in the teenage years. Dev Cogn Neurosci. 2013;6:30-39.
Stanovich KE. Does reading make you smarter? Literacy and the development of verbal intelligence. Adv Child Dev Behav. 1993;24:133-180.
Lazaroo NK, Bates TC, Hansell NK, Wright MJ, Martin NG, Luciano M. Genetic structure of IQ, phonemic decoding skill, and academic achievement. Front Genet. 2019;10:195.
Einarsdottir E, Peyrard-Janvid M, Darki F, et al. Identification of NCAN as a candidate gene for developmental dyslexia. Sci Rep. 2017;7(1):9294.
Scerri TS, Schulte-Korne G. Genetics of developmental dyslexia. Eur Child Adolesc Psychiatry. 2010;19(3):179-197.
Anitha A, Nakamura K, Yamada K, et al. Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder. Biol Psychiatry. 2008;63(7):678-685.
Poelmans G, Engelen JJ, Van Lent-Albrechts J, et al. Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(1):140-147.
Trulioff A, Ermakov A, Malashichev Y. Primary cilia as a possible link between left-right asymmetry and neurodevelopmental diseases. Genes. 2017;8(2):48.
Koomar T, Michaelson JJ. Genetic intersections of language and neuropsychiatric conditions. Curr Psychiatry Rep. 2020;22(1):4.
Fabbri C, Serretti A. Genetics of long-term treatment outcome in bipolar disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2016;65:17-24.
Truong DT, Adams AK, Paniagua S, et al. Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African-American youth. J Med Genet. 2019;56:557.
Sklar P, Smoller JW, Fan J, et al. Whole-genome association study of bipolar disorder. Mol Psychiatry. 2008;13(6):558-569.
Krug A, Nieratschker V, Markov V, et al. Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. Neuroimage. 2010;49(2):1831-1836.
Zhao Q, Che R, Zhang Z, et al. Positive association between GRIN2B gene and bipolar disorder in the Chinese Han population. Psychiatry Res. 2011;185(1-2):290-292.
Mascheretti S, Riva V, Giorda R, et al. KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia. J Hum Genet. 2014;59(4):189-197.
Guo W, Machado-Vieira R, Mathew S, et al. Exploratory genome-wide association analysis of response to ketamine and a polygenic analysis of response to scopolamine in depression. Transl Psychiatry. 2018;8(1):280.
Wingo AP, Ghaemi SN. A systematic review of rates and diagnostic validity of comorbid adult attention-deficit/hyperactivity disorder and bipolar disorder. J Clin Psychiatry. 2007;68(11):1776-1784.
Pinna M, Visioli C, Rago CM, Manchia M, Tondo L, Baldessarini RJ. Attention deficit-hyperactivity disorder in adult bipolar disorder patients. J Affect Disord. 2019;243:391-396.
O'Connell KS, Shadrin A, Bahrami S, et al. Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder. Mol Psychiatry. 2019. https://doi.org/10.1038/s41380-019-0613-z
Brainstorm C, Anttila V, Bulik-Sullivan B, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018;360:6395.
van Hulzen KJE, Scholz CJ, Franke B, et al. Genetic overlap between attention-deficit/hyperactivity disorder and Bipolar disorder: evidence from Genome-wide association study meta-analysis. Biol Psychiatry. 2017;82(9):634-641.
Li X, Xiao J, Frohlich H, et al. Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex. PLoS One. 2015;10(5):e0127671.
Hamada N, Ito H, Nishijo T, et al. Essential role of the nuclear isoform of RBFOX1, a candidate gene for autism spectrum disorders, in the brain development. Sci Rep. 2016;6:30805.
Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001;413(6855):519-523.
Bacon C, Rappold GA. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Hum Genet. 2012;131(11):1687-1698.
Sollis E, Graham SA, Vino A, et al. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Hum Mol Genet. 2016;25(3):546-557.
Siper PM, De Rubeis S, Trelles MDP, et al. Prospective investigation of FOXP1 syndrome. Mol Autism. 2017;8:57.
Autism Spectrum Disorders Working Group of The Psychiatric Genomics C. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism. 2017;8:21.
Vuong CK, Black DL, Zheng S. The neurogenetics of alternative splicing. Nat Rev Neurosci. 2016;17(5):265-281.
Lal D, Reinthaler EM, Altmuller J, et al. RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One. 2013;8(9):e73323.
Kwon S, Seo HE, Hwang SK. Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. Korean J Pediatr. 2012;55(10):383-387.
Boyer K. Not necessarily benign: rolandic epilepsy. Epilepsy Curr. 2016;16(4):254-255.
Consortium TS. (2002). A genomewide scan identifies two novel loci involved in specific language impairment**members of the consortium are listed in the appendix. The American Journal of Human Genetics, 70(2):384-398.
DeFries JC, Filipek PA, Fulker DW, Olson RK, Pennington BF, Smith SD, Wise BW. Colorado learning disabilities research center. Learn Disabil Multidisciplinary J. 1997;8:7-19.
Ward LD, Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Research. 2012;40(D1):D930-D9347.
UCSC Genome Browser: Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res. 2002 Jun;12(6):996-1006.
Watanabe K, Taskesen E, van Bochoven A, Posthuma D. Functional mapping and annotation of genetic associations with FUMA. Nat. Commun. 2017;8:1826.
Eicher JD, Gruen, JR. Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. Autism Research. 2014;8(2):229-234.
Mishra N, Kouzmitcheva E, Orsino A, Minassian BA. Chromosome 12p deletion spanning the GRIN2B gene presenting with a neurodevelopmental phenotype. Child Neurology Open. 2016;3:2329048X1662998. https://doi.org/10.1177/2329048x16629980

Auteurs

Kaitlyn M Price (KM)

Genetics and Development Division, Krembil Research Institute, University Health Network, Toronto, Ontario, Canada.
Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Physiology, University of Toronto, Toronto, Ontario, Canada.

Karen G Wigg (KG)

Genetics and Development Division, Krembil Research Institute, University Health Network, Toronto, Ontario, Canada.

Yu Feng (Y)

Genetics and Development Division, Krembil Research Institute, University Health Network, Toronto, Ontario, Canada.

Kirsten Blokland (K)

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.

Margaret Wilkinson (M)

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.

Gengming He (G)

Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

Elizabeth N Kerr (EN)

Department of Psychology, Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Tasha-Cate Carter (TC)

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.
Holland Bloorview Rehabilitation Hospital, Toronto, Ontario, Canada.

Sharon L Guger (SL)

Department of Psychology, Hospital for Sick Children, Toronto, Ontario, Canada.

Maureen W Lovett (MW)

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Lisa J Strug (LJ)

Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

Cathy L Barr (CL)

Genetics and Development Division, Krembil Research Institute, University Health Network, Toronto, Ontario, Canada.
Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Physiology, University of Toronto, Toronto, Ontario, Canada.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH