中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2017, Vol. 12 ›› Issue (2): 259-266.doi: 10.4103/1673-5374.200809

• 原著:脑损伤修复保护与再生 • 上一篇    下一篇

发展性阅读障碍与DCDC2基因多态性有关：来自对中国维吾尔族儿童的调查

  

  • 收稿日期:2016-12-21 出版日期:2017-02-15 发布日期:2017-02-15
  • 基金资助:

    国家自然科学基金（81360434）

DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children

Yun Chen1, Hua Zhao1, Yi-xin Zhang2, Peng-xiang Zuo1   

  1. 1 Medical College, Shihezi University, Shihezi, Xinjiang Uyghur Autonomous Region, China;
    2 Special Clinic Department, the 12th Hospital of People’s Liberation Army, Kashgar, Xinjiang Uyghur Autonomous Region, China)
  • Received:2016-12-21 Online:2017-02-15 Published:2017-02-15
  • Contact: Peng-xiang Zuo, M.D.,zuo_pengxiang@sina.com.
  • Supported by:

    This study was funded by the National Natural Science Foundation of China, No. 81360434.

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摘要：

 

发展性阅读障碍是一种复杂的读写障碍，具有很强的遗传倾向。在以往有关阅读障碍的遗传学研究中，已有大量的候选基因被识别，其中DCDC2基因在许多欧美的种群中被反复证实与阅读障碍相关，但在中国汉族儿童的研究中未能发现该基因与阅读障碍的相关性，即以往的结论并不一致。鉴于维吾尔族是欧亚混血种群，所以我们设计了分析维吾尔族儿童中DCDC2基因与阅读障碍相关性的调查性研究。纳入392例8-12岁中国新疆维吾尔族患儿，病例组为阅读障碍儿童196例，取正常健康儿童196例为对照组。将各组口腔黏膜细胞DCDC2基因的14个单核苷酸多态性位点(rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266)运用SNPscan法进行基因分型。通过卡方检验比较在5种不同模型 (共显性模型、显性模型、隐性模型、杂合优势模型和等位基因) 下两组间基因型及等位基因的频率差异。单位点分析显示，DCDC2基因单核苷酸多态性位点rs807724，rs2274305，rs4599626的等位基因频率在病例组和对照组中之间的差异有显著性意义，位点rs9467075和rs2274305在显性模型下组间基因型频率差异有显著性意义，位点rs6456593 和 rs6922023在显性模型及杂合优势模型下组间基因型频率差异均有显著性意义。此外，单体域rs9295619-rs807701-rs807724-rs2274305的T-G-C-T单体型及rs3765502-1087266中的T-A单体型在两组间差异具有显著性意义。因此，可以认为推断在中国新疆维吾尔族儿童中DCDC2基因多态性与阅读障碍相关。

ORCID:0000-0001-7881-8644(Peng-xiang Zuo)

关键词: 神经再生, 发展性阅读障碍, 单核苷酸多态性位点, 新疆, 小学生, 遗传学, 阅读障碍, 基因多态性, 发病机制, 病例-对照研究

Abstract:

Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms (rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266) in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models (Codominant, Dominant, Recessive, Heterozygote advantage, and Allele) between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs (rs807724, rs2274305, and rs4599626) were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype (rs9295619-rs807701-rs807724-rs2274305) and the T-A of the two-marker haplotype (rs3765502-1087266) were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.

Key words: nerve regeneration, developmental dyslexia, single nucleotide polymorphisms, Xinjiang Uyghur Autonomous Region, elementary school students, genetics, reading disability, gene polymorphisms, etiology, case-control study, neural regeneration