利用假定的增强子-启动子相互作用研究2型糖尿病全基因组关联研究中的双向上位性。
Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS.
作者信息
Manduchi Elisabetta, Chesi Alessandra, Hall Molly A, Grant Struan F A, Moore Jason H
机构信息
Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, 3700 Hamilton Walk, Philadelphia, PA, 19104, USA, ²Division of Human Genetics and Endocrinology, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA,
出版信息
Pac Symp Biocomput. 2018;23:548-558.
We utilized evidence for enhancer-promoter interactions from functional genomics data in order to build biological filters to narrow down the search space for two-way Single Nucleotide Polymorphism (SNP) interactions in Type 2 Diabetes (T2D) Genome Wide Association Studies (GWAS). This has led us to the identification of a reproducible statistically significant SNP pair associated with T2D. As more functional genomics data are being generated that can help identify potentially interacting enhancer-promoter pairs in larger collection of tissues/cells, this approach has implications for investigation of epistasis from GWAS in general.
我们利用功能基因组学数据中增强子与启动子相互作用的证据，构建生物学筛选器，以缩小2型糖尿病（T2D）全基因组关联研究（GWAS）中双向单核苷酸多态性（SNP）相互作用的搜索空间。这使我们鉴定出了一对与T2D相关的、具有统计学意义且可重复的SNP。随着越来越多的功能基因组学数据被生成，这些数据有助于在更大的组织/细胞集合中识别潜在相互作用的增强子-启动子对，这种方法总体上对GWAS上位性研究具有重要意义。
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