New York Genome Center, 101 Avenue of the Americas, New York, New York 10013, USA; and at the Department of Systems Biology, Columbia University, 1130 Street Nicholas Avenue, New York, New York 10032, USA.
Departments of Genetics, Medicine and Pediatrics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.
Nat Rev Genet. 2017 Jul;18(7):441-451. doi: 10.1038/nrg.2017.32. Epub 2017 May 30.
Epigenetic association studies have been carried out to test the hypothesis that environmental perturbations trigger cellular reprogramming, with downstream effects on cellular function and phenotypes. There have now been numerous studies of the potential molecular mediators of epigenetic changes by epigenome-wide association studies (EWAS). However, a challenge for the field is the interpretation of the results obtained. We describe a second-generation EWAS approach, which focuses on the possible cellular models of epigenetic perturbations, studied by rigorous analysis and interpretation of genomic data. Thus refocused, epigenetics research aligns with the field of functional genomics to provide insights into environmental and genetic influences on phenotypic variation in humans.
已经进行了表观遗传关联研究，以检验环境干扰引发细胞重编程的假设，其对细胞功能和表型有下游影响。现在已经有许多通过全基因组关联研究（EWAS）研究表观遗传变化潜在分子介质的研究。然而，该领域的一个挑战是解释所获得的结果。我们描述了一种第二代 EWAS 方法，该方法侧重于通过严格分析和解释基因组数据来研究表观遗传干扰的可能细胞模型。经过重新聚焦，表观遗传学研究与功能基因组学领域相吻合，为了解人类表型变异的环境和遗传影响提供了深入的见解。
