title: Identifying Liver Cancer-Related Enhancer SNPs by Integrating GWAS and Histone Modification ChIP-seq Data.
abstract: Many disease-related single nucleotide polymorphisms (SNPs) have been inferred from genome-wide association studies (GWAS) in recent years. Numerous studies have shown that some SNPs located in protein-coding regions are associated with numerous diseases by affecting gene expression. However, in noncoding regions, the mechanism of how SNPs contribute to disease susceptibility remains unclear. Enhancer elements are functional segments of DNA located in noncoding regions that play an important role in regulating gene expression. The SNPs located in enhancer elements may affect gene expression and lead to disease. We presented a method for identifying liver cancer-related enhancer SNPs through integrating GWAS and histone modification ChIP-seq data. We identified 22 liver cancer-related enhancer SNPs, 9 of which were regulatory SNPs involved in distal transcriptional regulation. The results highlight that these enhancer SNPs may play important roles in liver cancer.
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Tianjiao
authors.identifier: 0000-0001-9807-8620
authors.initials: T
authors.lastname: Zhang
authors.affiliation: School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Hu
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Xiaoliang
authors.initials: X
authors.lastname: Wu
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Ma
authors.affiliation: School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Qinghua
authors.identifier: 0000-0002-1827-0389
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Yadong
authors.identifier: 0000-0001-6500-6217
authors.initials: Y
authors.lastname: Wang
mesh_terms: D030561:Databases, Nucleic Acid; D030562:Databases, Protein; D004742:Enhancer Elements, Genetic; D005260:Female; D055106:Genome-Wide Association Study; D056945:Hep G2 Cells; D006657:Histones / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics / Q000378:metabolism; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011499:Protein Processing, Post-Translational
chemical_list: D006657:Histones