De Tisham, Goncalves Angela, Speed Doug, Froguel Philippe, Gaffney Daniel J, Johnson Michael R, Jarvelin Marjo-Riitta, Coin Lachlan Jm
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Department of Genomics of Common Diseases, Imperial College London, London, UK.
iScience. 2021 Jul 22;24(8):102893. doi: 10.1016/j.isci.2021.102893. eCollection 2021 Aug 20.
Here, with the example of common copy number variation (CNV) in the gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D) and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define metabolomic signatures for variants in .
在此，以该基因中常见的拷贝数变异（CNV）为例，我们展示了CNV检测领域的一项重要工作，即CNV与复杂人类性状（如氢核磁共振代谢组学表型）的关联以及人类诱导多能干细胞（HipSci）中CNV功能表征的一个实例。我们报告外显子11（ENSE00003720745）是一个与代谢组学调控相关的多效性位点，并表明其生物学特性与多种代谢疾病（如2型糖尿病（T2D）和癌症）相关。我们的结果进一步证明了多变量关联模型相对于单变量方法的优势，并定义了该基因变异的代谢组学特征。
