Genetic association studies have identified KIAA0319 gene as a possible susceptibility locus for reading disorder; however, very few studies are available from India. The study was planned to investigate the familial pattern and association of KIAA0319 polymorphisms among children with reading disorder visiting a tertiary centre in North India. This is a case–control, familial, and genetic association study on 30 children diagnosed with reading disorder (ICD‐10) and 30 matched healthy controls and their families. The Aggregate Neurobehavioral Student Health and Educational Review System was administered on parents of probands and controls for reading problems in their siblings, and Adult Reading Questionnaire was administered for parents of both groups. The blood sample was taken from probands, and DNA was isolated. Four KIAA0319 coding sequence single nucleotide polymorphisms (SNPs; rs4504469, rs6935076, rs2038137, and rs2179515) were genotyped using SNaPshot single nucleotide extension. The incidence of reading problem was significantly higher in families of probands as compared with families of controls. There were no significant differences in both groups regarding the frequency of alleles of four SNPs. The reading disorder showed a significant familial pattern, but KIAA0319 gene did not appear to be a susceptibility factor. Future replications with larger samples and whole genome studies are warranted.

中文翻译：

---

评估来自印度北部访问三级护理中心的儿童的KIAA0319基因家族型和多态性与特定阅读障碍的关联：病例对照研究

遗传关联研究已确定KIAA0319基因可能是阅读障碍的易感基因位点。但是，印度很少进行研究。该研究计划调查在印度北部一家三级中心就读障碍的儿童中的KIAA0319多态性的家族模式和关联。这是一项病例对照，家族和遗传关联研究，研究对象是30位被诊断患有阅读障碍（ICD-10）的儿童以及30位相匹配的健康对照及其家人。对先证者和父母的父母实施了神经行为学学生健康和教育综合审查系统，以控制其兄弟姐妹中的阅读问题，对两组的父母也进行了成人阅读调查表。血样取自先证者，并分离出DNA。使用SNaPshot单核苷酸延伸对四个KIAA0319编码序列单核苷酸多态性（SNP; rs4504469，rs6935076，rs2038137和rs2179515）进行基因分型。与对照组相比，先证者家庭的阅读问题发生率明显更高。两组中四个SNP的等位基因频率没有显着差异。阅读障碍表现出明显的家族性模式，但KIAA0319基因似乎不是易感因素。将来可以使用更大的样本进行复制和进行全基因组研究。与对照组相比，先证者家庭的阅读问题发生率明显更高。两组中四个SNP的等位基因频率没有显着差异。阅读障碍表现出明显的家族性模式，但KIAA0319基因似乎不是易感因素。将来可以使用更大的样本进行复制和进行全基因组研究。与对照组相比，先证者家庭的阅读问题发生率明显更高。两组中四个SNP的等位基因频率没有显着差异。阅读障碍表现出明显的家族性模式，但KIAA0319基因似乎不是易感因素。将来可以使用更大的样本进行复制和进行全基因组研究。