Genome-wide association study of shared components of reading disability and language impairment.
Genome-wide association study of shared components of reading disability and language impairment.
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DOI：
10.1111/gbb.12085
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发表时间：
2013-11
期刊：
影响因子：
--
通讯作者：
Pediatric Imaging, Neurocognition, and Genetics Study
中科院分区：
文献类型：
--
作者：
Eicher JD;Powers NR;Miller LL;Akshoomoff N;Amaral DG;Bloss CS;Libiger O;Schork NJ;Darst BF;Casey BJ;Chang L;Ernst T;Frazier J;Kaufmann WE;Keating B;Kenet T;Kennedy D;Mostofsky S;Murray SS;Sowell ER;Bartsch H;Kuperman JM;Brown TT;Hagler DJ Jr;Dale AM;Jernigan TL;St Pourcain B;Davey Smith G;Ring SM;Gruen JR;Pediatric Imaging, Neurocognition, and Genetics Study
书面和口头语言是对沟通技能的发展至关重要的神经行为特征。不幸的是，涉及这些特征的疾病——特别是阅读障碍（RD）和语言障碍（LI）——很常见，并且阻碍受影响的个体发展足够的沟通技巧，使他们面临不良学业、社会经济和精神结果的风险。 RD 和 LI 都是经常同时出现的复杂特征，使我们推测这些疾病具有共同的遗传病因。为了测试这一点，我们在雅芳父母和儿童纵向研究中对同时患有 RD 和 LI 的个体进行了全基因组关联研究。最强的关联出现在 ZNF385D（OR = 1.81，P = 5.45 × 10−7）和 COL4A2（OR = 1.71，P = 7.59 × 10−7）中的标记。 NDST4 内的标记显示与 LI 的相关性最强（OR = 1.827，P = 1.40 × 10−7）。我们在儿科影像神经认知遗传学研究中使用接受性词汇测量复制了 ZNF385D 的关联 (P = 0.00245)。然后，我们使用 16 个纤维束的扩散张量成像纤维束体积数据来检查复制标记的含义。 ZNF385D 是两个半球整体纤维束体积以及整体大脑体积的预测因子。在这里，我们提供了 ZNF385D 作为 RD 和 LI 候选基因的证据。转录因子 ZNF385D 在 RD 和 LI 中的意义强调了转录调控在高级神经认知特征发展中的重要性。需要进一步研究来辨别 ZNF385D 的靶基因及其在流利语言的神经发育中的功能。
Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits—specifically reading disability (RD) and language impairment (LI)—are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10−7) and COL4A2 (OR = 1.71, P = 7.59 × 10−7). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10−7). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.
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影响因子：
9.8
作者：
Liu, Jimmy Z.;Mcrae, Allan F.;Macgregor, Stuart
通讯作者：
Macgregor, Stuart
影响因子：
4.5
作者：
Dennis MY;Paracchini S;Scerri TS;Prokunina-Olsson L;Knight JC;Wade-Martins R;Coggill P;Beck S;Green ED;Monaco AP
通讯作者：
Monaco AP
DOI：
10.1111/gbb.12053
发表时间：
2013-08
期刊：
Genes, brain, and behavior
影响因子：
--
作者：
Luciano M;Evans DM;Hansell NK;Medland SE;Montgomery GW;Martin NG;Wright MJ;Bates TC
通讯作者：
Bates TC
影响因子：
9.2
作者：
Brown, Timothy T.;Kuperman, Joshua M.;Chung, Yoonho;Erhart, Matthew;McCabe, Connor;Hagler, Donald J., Jr.;Venkatraman, Vijay K.;Akshoomoff, Natacha;Amaral, David G.;Bloss, Cinnamon S.;Casey, B. J.;Chang, Linda;Ernst, Thomas M.;Frazier, Jean A.;Gruen, Jeffrey R.;Kaufmann, Walter E.;Kenet, Tal;Kennedy, David N.;Murray, Sarah S.;Sowell, Elizabeth R.;Jernigan, Terry L.;Dale, Anders M.
通讯作者：
Dale, Anders M.
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y