Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population

American Journal of Psychiatry

Volumn 165, Issue 12, 2008, Pages 1576-1584

  Paracchini, Silvia ^a   Steer, Colin D ^b   Buckingham, Lyn Louise ^b   Morris, Andrew P ^b   Ring, Susan ^b   Scerri, Thomas ^b   Stein, John ^b   Pembrey, Marcus E ^b   Ragoussis, Jiannis ^b   Golding, Jean ^b   Monaco, Anthony P ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 6P; DYSLEXIA; GENE; GENE EXPRESSION REGULATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; KIAA0319 GENE; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; READING; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SKILL;

ALLELES; CHILD; CHROMOSOMES, HUMAN, PAIR 6; DYSLEXIA; GENE EXPRESSION; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 57349157021     PISSN: 0002953X     EISSN: 15357228     Source Type: Journal    
DOI: 10.1176/appi.ajp.2008.07121872     Document Type: Article

References (31)

1. Pennington BF: The genetics of dyslexia. J Child Psychol Psychiatry 1990; 31:193-201
2. Shaywitz SE, Shaywitz BA, Fletcher JM, Escobar MD: Prevalence of reading disability in boys and girls: results of the Connecticut Longitudinal Study. JAMA 1990; 264:998-1002
3. DeFries JC, Alarcón M: Genetics of specific reading disability. Ment Retard Dev Disabil Res Rev 1996; 2:39-47
4. Fisher SE, DeFries JC: Developmental dyslexia: genetic dissection of a complex cognitive trait. Nat Rev Neurosci 2002; 3:767-780
5. Paracchini S, Scerri T, Monaco AP: The genetic lexicon of dyslexia. Ann Rev Genomics Hum Genet 2007; 8:57-79
6. Williams J, O'Donovan MC: The genetics of developmental dyslexia. Eur J Hum Genet 2006; 14:681-689
7. Fisher SE, Francks C: Genes, cognition and dyslexia: learning to read the genome. Trends Cogn Sci 2006; 10:250-257
8. Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J: A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA 2003; 100:11553-11558
9. Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, MacPhie IL, Walter J, Pennington BF, Fisher SE, Olson RK, DeFries JC, Stein JF, Monaco AP: 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; 75:1046-1058
10. Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J: Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet 2005; 76:581-591
11. Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, Pennington BF, Defries JC, Gelernter J, O'Reilly-Pol T, Somlo S, Skudlarski P, Shaywitz SE, Shaywitz BA, Marchione K, Wang Y, Paramasivam M, Loturco JJ, Page GP, Gruen JR: DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci USA 2005; 102:17053-17058; correction, 2005; 102:18763
12. Schumacher J, Anthoni H, Dahdouh F, Konig IR, Hillmer AM, Kluck N, Manthey M, Plume E, Warnke A, Remschmidt H, Hulsmann J, Cichon S, Lindgren CM, Propping P, Zucchelli M, Ziegler A, Peyrard-Janvid M, Schulte-Korne G, Nothen MM, Kere J: Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet 2006; 78:52-62
13. Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kaariainen H, Kere J: The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet 2005; 1(4):e50
14. Anthoni H, Zucchelli M, Matsson H, Muller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Korne G, Kere J, Nothen MM, Peyrard-Janvid M: A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet 2007; 16:667-677
15. Kaplan DE, Gayan J, Ahn J, Won TW, Pauls D, Olson RK, DeFries JC, Wood F, Pennington BF, Page GP, Smith SD, Gruen JR: Evidence for linkage and association with reading disability on 6p21.3-22. Am J Hum Genet 2002; 70:1287-1298
16. Deffenbacher KE, Kenyon JB, Hoover DM, Olson RK, Pennington BF, DeFries JC, Smith SD: Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses. Hum Genet 2004; 115:128-138
17. Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J, Richardson AJ, Owen MJ, Stein JF, Green ED, O'Donovan MC, Williams J, Monaco AP: Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Mol Psychiatry 2006; 11:1085-1091
18. Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP: The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet 2006; 15:1659-1666
19. 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; 326:145-150
20. Golding J, Pembrey M, Jones R: ALSPAC - the Avon Longitudinal Study of Parents and Children, I: study methodology. Paediatr Perinat Epidemiol 2001; 15:74-87
21. Jones RW, Ring S, Tyfield L, Hamvas R, Simmons H, Pembrey M, Golding J: A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC). Eur J Hum Genet 2000; 8:653-660
22. Rust J, Golombok S, Trickey G: WORD: Wechsler Objective Reading Dimensions Manual. Sidcup, UK, Psychological Corp, 1993
23. Rosner J, Simon DP: The Auditory Analysis Test: an initial report. J Learning Disabilities 1971; 4:40-48
24. Neale M: Neale Analysis of Reading Ability - Revised: Manual for Schools. Windsor, UK, NFER-Nelson, 1997
25. Nunes T, Bryant P, Olsson J: Learning morphological and phonological spelling rules: an intervention study. Scientific Studies of Reading 2003; 7:298-307
26. Wechsler D, Golombok S, Rust J: WISC-IIIUK: Wechsler Intelligence Scale for Children. Sidcup, UK, Psychological Corp, 1992
27. Marlow AJ, Fisher SE, Francks C, MacPhie IL, Cherny SS, Richardson AJ, Talcott JB, Stein JF, Monaco AP, Cardon LR: Use of multivariate linkage analysis for dissection of a complex cognitive trait. Am J Hum Genet 2003; 72:561-570
28. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D: The structure of haplotype blocks in the human genome. Science 2002; 296:2225-2229
29. Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC: A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry 2007; 62:811-817
30. Marchini J, Cardon LR, Phillips MS, Donnelly P: The effects of human population structure on large genetic association studies. Nat Genet 2004; 36:512-517
31. Hirschhorn JN, Daly MJ: Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6:95-108