title: Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.
abstract: OBJECTIVE
  Genome-wide association studies (GWASs) have revealed many SNPs and genes associated with osteoporosis. However, influence of these SNPs and genes on the predisposition to osteoporosis is not fully understood. We aimed to identify osteoporosis GWASs-associated SNPs potentially influencing the binding affinity of transcription factors and miRNAs, and reveal enrichment signaling pathway and "hub" genes of osteoporosis GWAS-associated genes.
  
  
  METHODS
  We conducted multiple computational analyses to explore function and mechanisms of osteoporosis GWAS-associated SNPs and genes, including SNP conservation analysis and functional annotation (influence of SNPs on transcription factors and miRNA binding), gene ontology analysis, pathway analysis and protein-protein interaction analysis.
  
  
  RESULTS
  Our results suggested that a number of SNPs potentially influence the binding affinity of transcription factors (NFATC2, MEF2C, SOX9, RUNX2, ESR2, FOXA1 and STAT3) and miRNAs. Osteoporosis GWASs-associated genes showed enrichment of Wnt signaling pathway, basal cell carcinoma and Hedgehog signaling pathway. Highly interconnected "hub" genes revealed by interaction network analysis are RUNX2, SP7, TNFRSF11B, LRP5, DKK1, ESR1 and SOST.
  
  
  CONCLUSIONS
  Our results provided the targets for further experimental assessment and further insight on osteoporosis pathophysiology.
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Longjuan
authors.initials: L
authors.lastname: Qin
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Yuyong
authors.initials: Y
authors.lastname: Liu
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Wang
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Guiju
authors.initials: G
authors.lastname: Wu
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Chen
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Weiyuan
authors.initials: W
authors.lastname: Ye
authors.affiliation: College of Computer Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Jiancai
authors.initials: J
authors.lastname: Yang
authors.affiliation: College of Life Sciences, Central China Normal University, Wuhan, 430079, China.
authors.forename: Qingyang
authors.initials: Q
authors.lastname: Huang
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D035683:MicroRNAs / Q000235:genetics*; D010024:Osteoporosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D035683:MicroRNAs; D014157:Transcription Factors