title: Tissue-specific pathway association analysis using genome-wide association study summaries.
abstract: Pathway association analysis has made great achievements in elucidating the genetic basis of human complex diseases. However, current pathway association analysis approaches fail to consider tissue-specificity.
  
  
  
  We developed a tissue-specific pathway interaction enrichment analysis algorithm (TPIEA). TPIEA was applied to two large Caucasian and Chinese genome-wide association study summary datasets of bone mineral density (BMD). TPIEA identified several significant pathways for BMD [false discovery rate (FDR) < 0.05], such as KEGG FOCAL ADHESION and KEGG AXON GUIDANCE, which had been demonstrated to be involved in the development of osteoporosis. We also compared the performance of TPIEA and classical pathway enrichment analysis, and TPIEA presented improved performance in recognizing disease relevant pathways. TPIEA may help to fill the gap of classic pathway association analysis approaches by considering tissue specificity.
  
  
  
  The online web tool of TPIEA is available at https://sourceforge.net/projects/tpieav1/files CONTACT: fzhxjtu@mail.xjtu.edu.cnSupplementary information: Supplementary data are available at Bioinformatics online.
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Wenyu
authors.initials: W
authors.lastname: Wang
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Jingcan
authors.initials: J
authors.lastname: Hao
authors.affiliation: Department of Radiation Oncology, First Affiliated Hospital, Health Science Center.
authors.forename: Shuyu
authors.initials: S
authors.lastname: Zheng
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Qianrui
authors.initials: Q
authors.lastname: Fan
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Awen
authors.initials: A
authors.lastname: He
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wen
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Xiong
authors.initials: X
authors.lastname: Guo
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Cuiyan
authors.initials: C
authors.lastname: Wu
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Sen
authors.initials: S
authors.lastname: Wang
authors.affiliation: Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, P.R. China.
authors.forename: Tielin
authors.initials: T
authors.lastname: Yang
authors.affiliation: Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Shen
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, P. R. China.
authors.forename: Xiangding
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
authors.forename: Qing
authors.initials: Q
authors.lastname: Tian
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, P. R. China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Tan
authors.affiliation: Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
authors.affiliation: Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
mesh_terms: D000465:Algorithms; D044466:Asian People / Q000235:genetics; D003627:Data Interpretation, Statistical; D053263:Gene Regulatory Networks; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D053858:Metabolic Networks and Pathways; D009928:Organ Specificity; D044465:White People / Q000235:genetics