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Olle Melander

Principal investigator

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Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk

Author

  • Xuemei Ji
  • Hans Brunnström
  • Jonas Manjer
  • Olle Melander
  • Kim Overvad
  • Christopher I Amos

Summary, in English

Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) data on 409 individuals to identify and validate the underlying pathways and to investigate the combined effect of genes from the identified susceptibility pathways. The KEGG neuroactive ligand receptor interaction pathway, two Reactome pathways, and 22 Gene Ontology terms were identified and replicated to be significantly associated with lung cancer risk, with P values less than 0.05 and FDR less than 0.1. Functional annotation of eQTL analysis results showed that the neuroactive ligand receptor interaction pathway and gated channel activity were involved in lung cancer risk. These pathways provide important insights for the etiology of lung cancer. © 2018, The Author(s).

Department/s

  • Improved diagnostics and prognostics of lung cancer and metastases to the lungs
  • EpiHealth: Epidemiology for Health
  • Surgery
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • EXODIAB: Excellence in Diabetes Research in Sweden

Publishing year

2018

Language

English

Publication/Series

Nature Communications

Volume

9

Issue

1

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Cancer and Oncology
  • Medical Genetics

Status

Published

Research group

  • Improved diagnostics and prognostics of lung cancer and metastases to the lungs
  • Surgery

ISBN/ISSN/Other

  • ISSN: 2041-1723