The KIAA0319-Like (KIAA0319L) Gene on Chromosome 1p34 as a Candidate for Reading Disabilities

作者：Couto Jillian M; Gomez Lissette; Wigg Karen; Cate Carter Tasha; Archibald Jennifer; Anderson Barbara; Tannock Rosemary; Kerr Elizabeth N; Lovett Maureen W; Humphries Tom; Barr Cathy L^*

来源：Journal of Neurogenetics, 2008, 22(4): 295-313.

DOI：10.1080/01677060802354328

• Association study
• complex trait
• QTL
• childhood disorder
• developmental dyslexia

A locus on chromosome 1p34-36 (DYX8) has been linked to developmental dyslexia or reading disabilities (RD) in three independent samples. In the current study, we investigated a candidate gene KIAA0319-Like (KIAA0319L) within DYX8, as it is homologous to KIAA0319, a strong RD candidate gene on chromosome 6p (DYX2). Association was assessed by using five tagging single nucleotide polymorphisms in a sample of 291 nuclear families ascertained through a proband with reading difficulties. Evidence of association was found for a single marker (rs7523017; P=0.042) and a haplotype (P=0.031), with RD defined as a categorical trait in a subset of the sample (n=156 families) with a proband that made our criteria for RD. The same haplotype also showed evidence for association with quantitative measures of word-reading efficiency (i.e., a composite score of word identification and decoding, P=0.032) and rapid naming of objects and colors (P=0.047) when analyzed using the entire sample. Although the results from the current study are modestly significant and would not withstand a correction for multiple testing, KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. Additional studies in independent samples are now required to confirm these findings.

• 出版日期2008