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Meta-Analysis
. 2016 Jul 28:6:30454.
doi: 10.1038/srep30454.

Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population

Shanshan Shao  1 , Yanfeng Niu  2 , Xiaohui Zhang  1 , Rui Kong  1 , Jia Wang  1 , Lingfei Liu  1 , Xiu Luo  1 , Jiajia Zhang  3 , Ranran Song  1
Affiliations
Meta-Analysis

Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population

Shanshan Shao et al. Sci Rep. .

Abstract

KIAA0319 at the DYX2 locus is one of the most extensively studied candidate genes for developmental dyslexia (DD) owing to its important role in neuronal migration. Previous research on associations between KIAA0319 genetic variations and DD has yielded inconsistent results. It is important to establish a more precise estimate of the DD risk associated with these genetic variations. We carried out a meta-analysis of association studies involving KIAA0319 polymorphisms and DD risk. The results of pooled analysis indicated that none of the six investigated markers in or near the KIAA0319 gene are associated with DD. However, a stratified analysis by the study population revealed opposite associations involving KIAA0319 rs4504469 in European and Asian subgroups. The stratified analysis also showed that the KIAA0319 rs9461045 minor allele (T allele) has a protective effect in Asians. This meta-analysis has allowed us to establish the effects of specific KIAA0319 polymorphisms on DD risk with greater precision, as they vary across populations; analyzing one single nucleotide polymorphism at a time could not fully explain the genetic association for DD.

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Figures

Figure 1
Figure 1. Gene structure and location of six single nucleotide polymorphisms (SNPs) in or near the KIAA0319 gene in this meta-analysis; one SNP in exon 4 of KIAA0319: rs4504469; two SNPs in intron 1of KIAA0319: rs6935076 and rs761100; two SNPs located in the promoter region of KIAA0319 gene: rs9461045 and rs3212236; one SNP in intron 2 of the TTRAP gene: rs2143340.
Exons are represented by numbered grey rectangles. Black parts represent gene’s upstream, introns or downstream.
Figure 2
Figure 2. Summary of estimated risk of developmental dyslexia associated with six markers in or near the KIAA0319 gene based on meta-analysis.
Figure 3
Figure 3. Regional linkage disequilibrium plot for SNP rs4504469 in CEU and JPT + CHB population panels.
CEU: Utah residents with Northern and Western European ancestry from the CEPH collection; JPT + CHB: Combined panel of Japanese in Tokyo, Japan and Han Chinese in Beijing, China.
See this image and copyright information in PMC

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