Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
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DOI：
10.1038/ng1985
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发表时间：
2007-03-01
期刊：
影响因子：
30.8
通讯作者：
Shih, Andy
中科院分区：
文献类型：
--
作者：
Szatmari, Peter;Paterson, Andrew D.;Shih, Andy
自闭症谱系障碍 (ASD) 是常见的、可遗传的神经发育疾病。自闭症谱系障碍的遗传结构很复杂，需要大量样本来克服异质性。在这里，我们通过使用 Affymetrix 10K SNP 阵列和至少有两个受影响个体的 1,168 个家族，相对于其他 ASD 研究扩大了覆盖范围和样本量，执行迄今为止最大的连锁扫描，同时还分析了这些家族中的拷贝数变异。连锁和拷贝数变异分析分别涉及染色体 11p12-p13 和神经毒素以及其他候选基因座。 Neurexins 与先前涉及谷氨酸能突触发生的神经连接蛋白合作，强调谷氨酸相关基因是促进自闭症谱系障碍的有希望的候选基因。
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.