TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort.

Haiying Meng, Karl Hager, Matthew Held, Grier P. Page, Richard K. Olson, Bruce F. Pennington, John C. DeFries, Shelley D. Smith, Jeffrey R. Gruen

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

A candidate gene, EKN1, was recently described in a cohort from Finland for the dyslexia locus on chromosome 15q, DYX1. This report described a (2;15) (q11;21) translocation disrupting EKN1 that cosegregated with dyslexia in a two-generation family. It also characterized a sequence polymorphism in the 5' untranslated region and a missense mutation that showed significant association in 109 dyslexics compared to 195 controls (p=0.002 and p=0.006, respectively). To confirm these results we interrogated the same polymorphisms in a cohort of 150 nuclear families with dyslexia ascertained through the Colorado Learning Disabilities Research Center. Using QTDT analysis with nine individual quantitative tasks and two composite measures of reading performance, we could not replicate the reported association. We conclude that the polymorphisms identified in the Finland sample are unlikely to be functional DNA changes contributing to dyslexia, and that if variation in EKN1 is causal such changes are more likely to be in regulatory regions that were not sequenced in this study. Alternatively, the published findings of association with markers in EKN1 may reflect linkage disequilibrium with variation in another gene(s) in the region.

Original languageEnglish (US)
Pages (from-to)87-90
Number of pages4
JournalHuman genetics
Volume118
Issue number1
DOIs
StatePublished - Oct 2005

Fingerprint

Dyslexia
Finland
Nucleic Acid Regulatory Sequences
5' Untranslated Regions
Learning Disorders
Linkage Disequilibrium
Missense Mutation
Nuclear Family
Genes
Reading
Chromosomes
DNA
Research

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Meng, H., Hager, K., Held, M., Page, G. P., Olson, R. K., Pennington, B. F., ... Gruen, J. R. (2005). TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. Human genetics, 118(1), 87-90. https://doi.org/10.1007/s00439-005-0017-9

TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. / Meng, Haiying; Hager, Karl; Held, Matthew; Page, Grier P.; Olson, Richard K.; Pennington, Bruce F.; DeFries, John C.; Smith, Shelley D.; Gruen, Jeffrey R.

In: Human genetics, Vol. 118, No. 1, 10.2005, p. 87-90.

Research output: Contribution to journalArticle

Meng, H, Hager, K, Held, M, Page, GP, Olson, RK, Pennington, BF, DeFries, JC, Smith, SD & Gruen, JR 2005, 'TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort.', Human genetics, vol. 118, no. 1, pp. 87-90. https://doi.org/10.1007/s00439-005-0017-9
Meng H, Hager K, Held M, Page GP, Olson RK, Pennington BF et al. TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. Human genetics. 2005 Oct;118(1):87-90. https://doi.org/10.1007/s00439-005-0017-9
Meng, Haiying ; Hager, Karl ; Held, Matthew ; Page, Grier P. ; Olson, Richard K. ; Pennington, Bruce F. ; DeFries, John C. ; Smith, Shelley D. ; Gruen, Jeffrey R. / TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. In: Human genetics. 2005 ; Vol. 118, No. 1. pp. 87-90.
@article{afe9e938938c4fe19d1788900197f0ad,
title = "TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort.",
abstract = "A candidate gene, EKN1, was recently described in a cohort from Finland for the dyslexia locus on chromosome 15q, DYX1. This report described a (2;15) (q11;21) translocation disrupting EKN1 that cosegregated with dyslexia in a two-generation family. It also characterized a sequence polymorphism in the 5' untranslated region and a missense mutation that showed significant association in 109 dyslexics compared to 195 controls (p=0.002 and p=0.006, respectively). To confirm these results we interrogated the same polymorphisms in a cohort of 150 nuclear families with dyslexia ascertained through the Colorado Learning Disabilities Research Center. Using QTDT analysis with nine individual quantitative tasks and two composite measures of reading performance, we could not replicate the reported association. We conclude that the polymorphisms identified in the Finland sample are unlikely to be functional DNA changes contributing to dyslexia, and that if variation in EKN1 is causal such changes are more likely to be in regulatory regions that were not sequenced in this study. Alternatively, the published findings of association with markers in EKN1 may reflect linkage disequilibrium with variation in another gene(s) in the region.",
author = "Haiying Meng and Karl Hager and Matthew Held and Page, {Grier P.} and Olson, {Richard K.} and Pennington, {Bruce F.} and DeFries, {John C.} and Smith, {Shelley D.} and Gruen, {Jeffrey R.}",
year = "2005",
month = "10",
doi = "10.1007/s00439-005-0017-9",
language = "English (US)",
volume = "118",
pages = "87--90",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort.

AU - Meng, Haiying

AU - Hager, Karl

AU - Held, Matthew

AU - Page, Grier P.

AU - Olson, Richard K.

AU - Pennington, Bruce F.

AU - DeFries, John C.

AU - Smith, Shelley D.

AU - Gruen, Jeffrey R.

PY - 2005/10

Y1 - 2005/10

N2 - A candidate gene, EKN1, was recently described in a cohort from Finland for the dyslexia locus on chromosome 15q, DYX1. This report described a (2;15) (q11;21) translocation disrupting EKN1 that cosegregated with dyslexia in a two-generation family. It also characterized a sequence polymorphism in the 5' untranslated region and a missense mutation that showed significant association in 109 dyslexics compared to 195 controls (p=0.002 and p=0.006, respectively). To confirm these results we interrogated the same polymorphisms in a cohort of 150 nuclear families with dyslexia ascertained through the Colorado Learning Disabilities Research Center. Using QTDT analysis with nine individual quantitative tasks and two composite measures of reading performance, we could not replicate the reported association. We conclude that the polymorphisms identified in the Finland sample are unlikely to be functional DNA changes contributing to dyslexia, and that if variation in EKN1 is causal such changes are more likely to be in regulatory regions that were not sequenced in this study. Alternatively, the published findings of association with markers in EKN1 may reflect linkage disequilibrium with variation in another gene(s) in the region.

AB - A candidate gene, EKN1, was recently described in a cohort from Finland for the dyslexia locus on chromosome 15q, DYX1. This report described a (2;15) (q11;21) translocation disrupting EKN1 that cosegregated with dyslexia in a two-generation family. It also characterized a sequence polymorphism in the 5' untranslated region and a missense mutation that showed significant association in 109 dyslexics compared to 195 controls (p=0.002 and p=0.006, respectively). To confirm these results we interrogated the same polymorphisms in a cohort of 150 nuclear families with dyslexia ascertained through the Colorado Learning Disabilities Research Center. Using QTDT analysis with nine individual quantitative tasks and two composite measures of reading performance, we could not replicate the reported association. We conclude that the polymorphisms identified in the Finland sample are unlikely to be functional DNA changes contributing to dyslexia, and that if variation in EKN1 is causal such changes are more likely to be in regulatory regions that were not sequenced in this study. Alternatively, the published findings of association with markers in EKN1 may reflect linkage disequilibrium with variation in another gene(s) in the region.

UR - http://www.scopus.com/inward/record.url?scp=33744733429&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33744733429&partnerID=8YFLogxK

U2 - 10.1007/s00439-005-0017-9

DO - 10.1007/s00439-005-0017-9

M3 - Article

C2 - 16133186

AN - SCOPUS:33744733429

VL - 118

SP - 87

EP - 90

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 1

ER -