DCDC2与KIAA0319基因间交互作用与维吾尔族儿童发展性阅读障碍的关联性研究

Association of the interaction between DCDC2 and KIAA0319 gene and developmental dyslexia in Uyghur children

目的:探讨DCDC2的位点rs6456593、rs807701、rs2274305及KIAA0319的位点rs4504469、rs9461045多态性间交互作用与阅读障碍的相关性。方法:采用SNPscan SNP分型技术对392例新疆维吾尔族儿童的DCDC2的rs6456593、rs807701、rs2274305位点及KIAA0319的rs4504469、rs9461045位点多态性进行检测,在遗传平衡的基础上,应用多因子降维法检测基因与基因间的交互效应,并用logistic回归进行验证。结果:DCDC2的rs6456593在基因型(P=0. 020)、rs2274305在等位基因(P=0. 033)、KIAA0319的rs9461045在基因型(P <0. 05)和等位基因(P <0. 01)分布在病例组和对照组比较差异有统计学意义,且多因子降维法提示最佳模型是DCDC2的rs6456593、rs2274305及KIAA0319的rs4504469、rs9461045的联合作用,交叉验证一致性为10/10,检验样本精确度为0. 596;由上述四因子组成的交互组合人群是非上述组合人群阅读障碍发病风险的4. 66倍(OR=4. 66,95%CI:3. 03～7. 16),交互作用具有统计学意义(P <0. 05)。结论:DCDC2的位点rs6456593、rs807701、rs2274305及KIAA0319的位点rs4504469、rs9461045多态性存在交互作用,可能增加新疆维吾尔族儿童阅读障碍的患病风险。

Objective:To investigate the correlation between single nucleotide polymorphisms(SNPs)of DCDC2(rs6456593,rs807701 and rs2274305)and KIAA 0319(rs4504469 and rs9461045)polymorphism interactions and developmental dyslexia.Methods:A total of 392 Uyghur children were enrolled in Xinjiang.Three SNPs(rs6456593,rs807701 and rs2274305)of DCDC2 and two SNPs(rs4504469 and rs9461045)of KIAA 0319 polymorphisms were genotyped by SNPscan SNP typing.After Hardy-Weinberg equilibrium(HWE)tests,the gene-gene interactions were detected by the Multifactor Dimensionality Reduction(MDR),and a logistic regression was employed to verify the best model.Results:Single-gene analysis showed that rs6456593 in genotype distribution(P<0.05),rs2274305 in allele frequency(P<0.05)and rs9461045 in both genotype distribution(P<0.05)and allele frequency(P<0.01)had significant differences between the cases and controls.With the rs6456593 and rs2274305 of DCDC2,and rs4504469 and rs9461045 of KIAA 0319 combinations were judged as"high-risk"population by MDR(cross-validation consistency was 10/10,testing balance accuracy was 0.596),and other combinations were discriminated as the"low-risk"population.The risk of developmental dyslexia in"high-risk"population was 4.66 times as compared with the"low-risk"population(OR=4.66,95%CI:3.03~7.16),and the interaction was statistical significant(P=0.021).Conclusion:There is interaction between SNPs of DCDC2(rs6456593,rs807701 and rs2274305)and KIAA 0319(rs4504469 and rs9461045)polymorphism.It may increase the risk of dyslexia in Xinjiang Uyghur children.