Luciano Michelle, Lind Penelope A, Duffy David L, Castles Anne, Wright Margaret J, Montgomery Grant W, Martin Nicholas G, Bates Timothy C
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia.
Biol Psychiatry. 2007 Oct 1;62(7):811-7. doi: 10.1016/j.biopsych.2007.03.007. Epub 2007 Jun 27.
KIAA0319 (6p22.2) has recently been implicated as a susceptibility gene for dyslexia. We aimed to find further support for this gene by examining its association with reading and spelling ability in adolescent twins and their siblings unselected for dyslexia.
Ten single nucleotide polymorphisms (SNPs) in or near the KIAA0319 gene were typed in 440 families with up to five offspring who had been tested on reading and spelling tasks. Family-based association analyses were performed, including a univariate analysis of the principal component reading and spelling score derived from the Components of Reading Examination (CORE) test battery and a bivariate analysis of whole-word reading tests measured in a slightly larger sample.
Significant association with rs2143340 (TTRAP) and rs6935076 (KIAA0319) and with a three-SNP haplotype spanning KIAA0319 and TTRAP was observed. The association with rs2143340 was found in both analyses, although the effect was in the opposite direction to that previously reported. The effect of rs6935076 on the principal component was in the same direction as past findings. Two of the three significant individual haplotypes showed effects in the opposite direction to the two prior reports.
These results suggest that a multilocus effect in or near KIAA0319 may influence variation in reading ability.
KIAA0319（6p22.2）最近被认为是诵读困难的一个易感基因。我们旨在通过研究该基因与未被选择患有诵读困难的青少年双胞胎及其兄弟姐妹的阅读和拼写能力之间的关联，来进一步支持这一基因。
在440个家庭中对KIAA0319基因内部或附近的10个单核苷酸多态性（SNP）进行分型，这些家庭中有多达5个后代接受了阅读和拼写任务测试。进行了基于家庭的关联分析，包括对源自阅读考试组件（CORE）测试组合的主要成分阅读和拼写分数的单变量分析，以及对在稍大样本中测量的全词阅读测试的双变量分析。
观察到与rs2143340（TTRAP）和rs6935076（KIAA0319）以及与跨越KIAA0319和TTRAP的一个三SNP单倍型存在显著关联。在两项分析中均发现了与rs2143340的关联，尽管其效应方向与先前报道的相反。rs6935076对主要成分的效应方向与过去的研究结果相同。三个显著的个体单倍型中有两个显示出与之前两份报告相反的效应。
这些结果表明，KIAA0319内部或附近的多位点效应可能会影响阅读能力的变异。
