Genome scan of a nonword repetition phenotype in families with dyslexia: evidence for multiple loci.
Genome scan of a nonword repetition phenotype in families with dyslexia: evidence for multiple loci.
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DOI：
10.1007/s10519-008-9215-2
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发表时间：
2008-09
影响因子：
2.6
通讯作者：
Raskind, Wendy H.
中科院分区：
文献类型：
--
作者：
Brkanac, Zoran;Chapman, Nicola H.;Igo, Robert P., Jr.;Matsushita, Mark M.;Nielsen, Kathleen;Berninger, Virginia W.;Wijsman, Ellen M.;Raskind, Wendy H.
为了了解阅读障碍的遗传结构并确定相关基因的位置，我们使用语音记忆表型-非单词重复（NWR）对多代家庭进行了连锁分析。首先对来自51个家族（DS-1）的438人进行了基因组扫描，并使用方差成分（VC）、贝叶斯寡基因（BO）和参数分析来评估联系。为了复制，对来自93个家庭（DS-2）的693人进行了基因组扫描和分析。对于组合集（DS-C），在两个样本中确定的区域使用所有三种方法进行分析。在DS-1中，染色体4p、6q、12p、17q和22q上的区域超过了我们的初始连锁阈值，其中17q的参数LOD评分为3.2。用DS-2分析确定了在4p和12p染色体上的位置。VC和BO信号在DS-C的4p染色体上最强，4p位点的参数多点LODmax为2.36。我们对阅读障碍患者NWR的连锁分析为两个样本中与4p12和12p的连锁提供了提示性和可重复的证据，并为其中一个样本中与17q的连锁提供了重要证据。这些结果为进一步研究语音记忆和染色体区域在其他数据集中确定提供了依据。
To understand the genetic architecture of dyslexia and identify the locations of genes involved, we performed linkage analyses in multigenerational families using a phonological memory phenotype—Nonword Repetition (NWR). A genome scan was first performed on 438 people from 51 families (DS-1) and linkage was assessed using variance components (VC), Bayesian oligogenic (BO), and parametric analyses. For replication, the genome scan and analyses were repeated on 693 people from 93 families (DS-2). For the combined set (DS-C), analyses were performed with all three methods in the regions that were identified in both samples. In DS-1, regions on chromosomes 4p, 6q, 12p, 17q, and 22q exceeded our initial threshold for linkage, with 17q providing a parametric LOD score of 3.2. Analysis with DS-2 confirmed the locations on chromosomes 4p and 12p. The strongest VC and BO signals in both samples were on chromosome 4p in DS-C, with a parametric multipoint LODmax of 2.36 for the 4p locus. Our linkage analyses of NWR in dyslexia provide suggestive and reproducible evidence for linkage to 4p12 and 12p in both samples, and significant evidence for linkage to 17q in one of the samples. These results warrant further studies of phonological memory and chromosomal regions identified here in other datasets.
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DOI：
10.1002/ajmg.b.30018
发表时间：
2004-11-15
影响因子：
2.8
作者：
Chapman, NH;Igo, RP;Raskind, WH
通讯作者：
Raskind, WH
影响因子：
9.8
作者：
Cope, N;Harold, D;Williams, J
通讯作者：
Williams, J
影响因子：
2.1
作者：
Blangero, J;Williams, JT;Almasy, L
通讯作者：
Almasy, L
影响因子：
30.8
作者：
Abecasis, GR;Cherny, SS;Cardon, LR
通讯作者：
Cardon, LR
影响因子：
1.9
作者：
BONNEY, GE
通讯作者：
BONNEY, GE