Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions
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DOI：
10.1016/j.ajhg.2011.10.014
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发表时间：
2011-12-09
影响因子：
9.8
通讯作者：
Hirschhorn, Joel N.
中科院分区：
文献类型：
--
作者：
Dauber, Andrew;Yu, Yongguo;Hirschhorn, Joel N.
身高是一种高度可遗传的多基因模型性状。全基因组关联研究已经确定了数百个与身高相关的单核苷酸多态性，但结构变异在决定身高中的作用在很大程度上是未知的。我们在一个临床队列中进行了全基因组拷贝数变异和身高的关联研究，这些儿童接受了用于临床适应症的比较基因组杂交（CGH）微阵列分析。我们发现，身材矮小的受试者比对照组有更大的拷贝数变异（CNVs）的总体负担和更大的平均CNV长度（p
Height is a model polygenic trait that is highly heritable. Genome-wide association studies have identified hundreds of single-nucleotide polymorphisms associated with stature, but the role of structural variation in determining height is largely unknown. We performed a genome-wide association study of copy-number variation and stature in a clinical cohort of children who had undergone comparative genomic hybridization (CGH) microarray analysis for clinical indications. We found that subjects with short stature had a greater global burden of copy-number variants (CNVs) and a greater average CNV length than did controls (p