KIAA0319基因与汉族儿童阅读障碍的关联性研究

KIAA0319 Gene Polymorphisms are Associated with Developmental Dyslexia in Han Children

赵华;刘瑞芳;姚水洪;左彭湘

1:衢州职业技术学院医学院

2:石河子大学医学院

摘要
目的 研究KIAA0319基因与汉族儿童发展性阅读障碍的关系,为疾病的筛查和干预提供依据。方法 采用病例对照研究方法,选取汉族阅读障碍儿童168例,控制混杂因素后选择健康对照儿童168例,一次性口腔黏膜拭子采集DNA,利用多重SNP分型试剂盒对KIAA0319基因的4个SNPs位点(rs4504469、rs3212236、rs6935076、rs3756821)进行遗传多态性研究。结果 KIAA0319基因位点rs6935076、rs3756821、rs3212236的等位基因频率和基因型频率在阅读障碍组和健康对照组之间的差异有统计学意义(P<0.05);经Bonferrion校正检验后,位点rs6935076的等位基因频率(P=0.023)、rs3756821的等位基因(P=0.015)和基因型频率(P=0.010)仍有显著差异;多个位点间的连锁分析形成1个单倍域,其中“CCC”和“TTT”单倍体与阅读障碍儿童具有显著关联(P<0.05)。结论 KIAA0319基因是汉族儿童阅读障碍的遗传易感因素。
关键词
汉族;阅读障碍;KIAA0319基因;多态性
基金项目(Foundation):
浙江省衢州市科技计划项目(2021K32)
作者
赵华;刘瑞芳;姚水洪;左彭湘
参考文献

1 赵华,刘瑞芳,史红娟,等.衢州市阅读障碍儿童家庭环境影响因素分析[J].中国学校卫生,2018,39(8):1250-1252.

2 Adlof SM,Hogan TP.Understanding dyslexia in the context of developmental language disorders[J].Lang Speech Hear Serv Sch,2018,49(4):762-773.

3 Huang M,Liang C,Li S,et al.Two autism/dyslexia linked variations of DOCK4 disrupt the gene function on Rac1/Rap1 activation,neurite outgrowth,and synapse development[J].Front Cell Neurosci,2020,15(13):577-590.

4 Gostic M,Martinelli A,Tucker C,et al.The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration[J].J Comp Neurol,2019,527(16):2634-2643.

5 Zhao H,Chen Y,Zhang BP,et al.KIAA0319 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children[J].J Hum Genet,2016,61(8):745-752.

6 Sun Y,Gao Y,Zhou Y,et al.Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population[J].Am J Med Genet B Neuropsychiatr Genet,2014,165B(8):627-634.

7 王忠,静进,艾素英,等.学习障碍儿童筛查量表区域性实施的信度与效度分析[J].中国预防医学杂志,2010,11(7):682-685.

8 侯芳,宋然然.文献快报:儿童汉语阅读障碍量表信效度评价[J].中国学校卫生,2019,40(8):1136-1137.

9 厚粲.韦氏儿童智力量表第四版(WISC-IV)中文版的修订[J].心理科学,2009,32(5):1177-1179.

10 Zou L,Chen W,Shao S,et al.Genetic variant in KIAA0319,but not in DYX1C1,is associated with risk of dyslexia:an integrated meta-analysis[J].Am J Med Genet B Neuropsychiatr Genet,2012,159B(8):970-976.

11 Shao S,Niu Y,Zhang X,et al.Opposite associations between individual KIAA0319 polymorphisms and developmental dyslexia risk across populations:a stratified meta-analysis by the study population[J].Sci Rep,2016,28(6):30454-30463.

12 Deng KG,Zhao H,Zuo PX.Association between KIAA0319 SNPs and risk of dyslexia:a meta-analysis[J].J Genet,2019,98(1):62-71.

13 Cope N,Harold D,Hill G,et al.Strong evidence that KIAA0319,on chromosome 6p is a susceptibility gene for developmental dyslexia[J].Am J Hum Genet,2005,76(4):581-591.

14 Sotiropoulos A,Hanley JR.Developmental surface and phonological dyslexia in both Greek and English[J].Cognition,2017,11(168):205-216.

15 Ijalba E,Bustos A,Romero S.Phonological-orthographic deficits in developmental dyslexia in three Spanish-English bilingual students[J].Am J Speech Lang Pathol,2020,29(3):1133-1151.

16 Liu L,Gu H,Hou F,et al.Dyslexia associated functional variants in Europeans are not associated with dyslexia in Chinese[J].Am J Med Genet B Neuropsychiatr Genet,2019,180(7):488-495.

17 Surushkina SY,Yakovenko EA,Chutko LS,et al.Disleksiya kak mnogofaktornoe rasstroistvo [Dyslexia as a multideficit disorder][J].Zh Nevrol Psikhiatr Im S S Korsakova,2020,120(7):142-148.

18 Harold D,Paracchini S,Scerri T,et al.Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia[J].Mol Psychiatr,2006,11(12):1085-1091.

19 Dennis MY,Paracchini S,Scerri TS,et al.A common variant associated with dyslexia reduces expression of the KIAA0319 gene[J].PLoS Genet,2009,5(3):e1000436-445.

20 Darki F,Peyrard JM,Matsson H,et al.Three dyslexia susceptibility genes,DYX1C1,DCDC2,and KIAA0319,affect temporo-parietal white matter structure[J].Biol Psychiatry,2012,72(8):671-676.

21 Osoegawa K,Mack SJ,Prestegaard M,et al.Tools for building,analyzing and evaluating HLA haplotypes from families[J].Hum Immunol,2019,80(9):633-643.

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