Association Study Of Genes KIAA0319 Polymorphism And Developmental Dyslexia In Uyghur Children

Background/Object: The association of KIAA0319 and developmental dyslexia have been reported in previous studies. However, the results are not always consistent due to the differences of language and genetic. Besides, our previous studie showed that the prevalence of dyslexia in Uyghur children was estimated to 5.9%. In the present study, we aimed at investigating the association of KIAA0319 gene polymorphisms and developmental dyslexia in individuals of Uyghurian descent.Methods: The study design was a case-control analysis. We selected 196 patients with dyslexia and 196 controls of Uyghur descent based on the same grade, sex and age. Informed written consents were obtained from all participants students and their guardians. Then, we used a custom-by-design 48-Plex SNPscan?Kit to genotype eighteen single nucleotide polymorphisms(SNP) of gene KIAA0319. All statistical analyses were performed with SPSS 17.0 Linkage disequilibrium(LD) analysis of eighteen SNPs and haplotype selection were performed using Haploview software.Results: Among 18 SNPs, all the markers showed HWE P>0.05, except rs16889506(P=0.022). In single analysis of allelic frequencies, six SNPs were significant different between dyslexia and control students,and the minor allele(T) frequency of rs6935076 with P=0.026 and T allele of rs3756821 with P=0.023 also displayed a strong association with dyslexia after applying Bonferroni’s correction. In single analysis of genotype frequencies, seven SNPs of KIAA0319 had significant differences between the cases and controls under specific genotype models, especially for rs6935076(Padjusted=0.020 under dominant model;Padjusted=0.028 under additive model) and rs3756821(Padjusted=0.021 under additive model), which still associated with dyslexia after Bonferroni correction. The linkage disequilibrium analysis showed three block within gene KIAA0319 and only the ten-maker haplotype(CCTTTAGTTC:OR=1.797,95%CI=1.131-2.857,P=0.013; CCCCTAGTTC:OR=1.689,95%CI=1.016-2.809, P=0.043) in block 3 was significantly more common in dyslexia children than in controls.Conclusion: This study indicated that genetic polymorphisms of KIAA0319 are associated with increased risk of developmental dyslexia in Uyghur population, especially for rs6935076 and rs3756821.The 10-SNP haplotype in block 3 was present at significantly different frequencies in the dyslexic children and controls.