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Title: Detecting genes for developmental dyslexia on chromosome 6p
Author: Cope, Natalie Alexandra
ISNI:       0000 0004 2748 4519
Awarding Body: Cardiff University
Current Institution: Cardiff University
Date of Award: 2006
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Developmental dyslexia (DD) is a complex, cognitive disorder, characterised by an impairment in reading despite adequate educational, motivational and intellectual opportunities and in the absence of any sensory or neurological disability. Family and twin studies have shown that genes make a substantial contribution to individual variation in risk of DD. Genetic linkage and association studies have implicated a number of chromosomal regions that may harbour susceptibility genes for DD, including regions on chromosomes 6p and 15q. The aims of this thesis were to identify novel susceptibility gene(s) for DD on chromosome 6p and to replicate the association reported between DD and EKN1 on chromosome 15q. Eleven genes on chromosome 6p were tested for association with DD using data derived from DNA pooling assays of 168 SNPs. Nineteen associations were observed and a minimum set of 13 SNPs were chosen for individual genotyping in a case-control and family-based sample. Nine SNPs revealed association with DD (p<0.03) located in PRL (1 SNP), MRS2L (1 SNP), KIAA0319 (4 SNPs), THEM2 (2 SNP) and 1 intergenic SNP. A haplotype comprising rs4504469/rs6935076 (KIAA0319) revealed strong evidence for association with DD (p=0.0001). This combined with the results of logistic regression analyses suggests that variation within K1AA0319 increases susceptibility to DD. Component phenotype analysis of the rs4504469/rs6935076 haplotype suggested that variation on the haplotype may influence a number of components of reading. It may also influence single word reading across the normal ability spectrum, but for other component phenotypes, variation on rs4504469/rs6935076 may influence affection status only. Association between DD and EKN1 was tested in a large family-based sample. No association was observed between SNPs previously reported to show association with DD (p>0.20). No significant associations were observed between EKN1 and component phenotypes of DD. This study identifies KIAA0319 as a susceptibility gene for DD and suggests that EKN1 is unlikely to increase vulnerability to DD.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available