Institute of Medical Biometry and Statistics, University at Lübeck, Germany.
Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):36-43. doi: 10.1002/ajmg.b.31135. Epub 2010 Nov 2.
In a genome-wide linkage scan, we aimed at mapping risk loci for dyslexia in the German population. Our sample comprised 1,030 individuals from 246 dyslexia families which were recruited through a single-proband sib pair study design and a detailed assessment of dyslexia and related cognitive traits. We found evidence for a major dyslexia locus on chromosome 6p21. The cognitive trait rapid naming (objects/colors) produced a genome-wide significant LOD score of 5.87 (P = 1.00 × 10⁻⁷) and the implicated 6p-risk region spans around 10 Mb. Although our finding maps close to DYX2, where the dyslexia candidate genes DCDC2 and KIAA0319 have already been identified, our data point to the presence of an additional risk gene in this region and are highlighting the impact of 6p21 in dyslexia and related cognitive traits.
在全基因组连锁扫描中，我们旨在定位德国人群阅读障碍的风险基因座。我们的样本包括 246 个阅读障碍家系的 1030 名个体，这些家系通过单患者同胞对研究设计和对阅读障碍和相关认知特征的详细评估进行招募。我们在染色体 6p21 上发现了阅读障碍的主要基因座的证据。认知特征快速命名（物体/颜色）产生了全基因组显著的 LOD 分数 5.87（P = 1.00×10⁻⁷），所涉及的 6p 风险区域跨越约 10 Mb。虽然我们的发现与 DYX2 接近，其中已经确定了阅读障碍候选基因 DCDC2 和 KIAA0319，但我们的数据表明该区域存在额外的风险基因，并强调了 6p21 在阅读障碍和相关认知特征中的作用。
