Centre for Genetics and Genomics and School of Biology, University of Nottingham, Nottingham, UK.
Genes Immun. 2012 Jul;13(5):374-9. doi: 10.1038/gene.2012.5. Epub 2012 Apr 5.
Copy number variation (CNV) is becoming increasingly important as a feature of human variation in disease susceptibility studies. However, the consequences of CNV are not so well understood. Here, we present data exploring the functional consequences of CNV of CCL3L1 in 55 independent UK samples with no known clinical phenotypes. The copy number of CCL3L1 was determined by the paralogue ratio test, and expression levels of macrophage inflammatory protein-1α (MIP-1α) and mRNA from stimulated monocytes were measured and analysed. The data show no statistically significant association of MIP-1α protein levels with copy number. However, there was a significant correlation between copy number and CCL3L1:CCL3 mRNA ratio. The data also provide evidence that expression of CCL3 predominates in both protein and mRNA, and therefore the observed variation of CCL3 is potentially more important biologically than that of CNV of CCL3L1.
拷贝数变异 (CNV) 作为人类疾病易感性研究中变异的一个特征变得越来越重要。然而，CNV 的后果还不是很清楚。在这里，我们展示了在 55 个没有已知临床表型的独立英国样本中探索 CCL3L1 的 CNV 的功能后果的数据。CCL3L1 的拷贝数通过旁系同源物比例测试确定，并且测量和分析了巨噬细胞炎症蛋白-1α (MIP-1α) 和刺激单核细胞的 mRNA 的表达水平。数据显示 MIP-1α 蛋白水平与拷贝数之间没有统计学上的显著关联。然而，在拷贝数和 CCL3L1:CCL3 mRNA 比值之间存在显著相关性。数据还提供了证据表明 CCL3 的表达在蛋白质和 mRNA 中均占主导地位，因此观察到的 CCL3 变异在生物学上可能比 CCL3L1 的 CNV 更重要。
