Evidence for linkage and association with reading disability, on 6p21.3-22

D. E. Kaplan, J. Gayán, J. Ahn, T. W. Won, D. Pauls, R. K. Olson, J. C. DeFries, F. Wood, B. F. Pennington, G. P. Page, S. D. Smith, Jeffrey R. Gruen

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117 Scopus citations


Reading disability (RD), or dyslexia, is a common heterogeneous syndrome with a large genetic component. Several studies have consistently found evidence for a quantitative-trait locus (QTL) within the 17 Mb (14.9 cM) that span D6S109 and D6S291 on chromosome 6p21.3-22. To characterize further linkage to the QTL, to define more accurately the location and the effect size, and to identify a peak of association, we performed Haseman-Elston and DeFries-Fulker linkage analyses, as well as transmission/disequilibrium, total-association, and variance-components analyses, on 11 quantitative reading and language phenotypes. One hundred four families with RD were genotyped with a new panel of 29 markers that spans 9 Mb of this region. Linkage results varied widely in degree of statistical significance for the different linkage tests, but multipoint analysis suggested a peak near D6S461. The average 6p QTL heritability for the 11 reading and language phenotypes was 0.27, with a maximum of 0.66 for orthographic choice. Consistent with the region of linkage described by these studies and others, there was a peak of transmission disequilibrium with a QTL centered at JA04 (x2= 9.48; empirical P =. 0033; orthographic choice), and there was strong evidence for total association at this same marker (x2= 11.49; P =. 0007; orthographic choice). Although the boundaries of the peak could not be precisely defined, the most likely location of the QTL is within a 4-Mb region surrounding JA04.

Original languageEnglish (US)
Pages (from-to)1287-1298
Number of pages12
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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