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A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

Author

Listed:
  • Sanford D Markowitz
  • Nora L Nock
  • Stephanie L Schmit
  • Zsofia K Stadler
  • Vijai Joseph
  • Lu Zhang
  • Joseph E Willis
  • Peter Scacheri
  • Martina Veigl
  • Mark D Adams
  • Leon Raskin
  • John F Sullivan
  • Kelly Stratton
  • Jinru Shia
  • Nathan Ellis
  • Hedy S Rennert
  • Christopher Manschreck
  • Li Li
  • Kenneth Offit
  • Robert C Elston
  • Gadi Rennert
  • Stephen B Gruber

Abstract

We tested for germline variants showing association to colon cancer metastasis using a genome-wide association study that compared Ashkenazi Jewish individuals with stage IV metastatic colon cancers versus those with stage I or II non-metastatic colon cancers. In a two-stage study design, we demonstrated significant association to developing metastatic disease for rs60745952, that in Ashkenazi discovery and validation cohorts, respectively, showed an odds ratio (OR) = 2.3 (P = 2.73E-06) and OR = 1.89 (P = 8.05E-04) (exceeding validation threshold of 0.0044). Significant association to metastatic colon cancer was further confirmed by a meta-analysis of rs60745952 in these datasets plus an additional Ashkenazi validation cohort (OR = 1.92; 95% CI: 1.28–2.87), and by a permutation test that demonstrated a significantly longer haplotype surrounding rs60745952 in the stage IV samples. rs60745952, located in an intergenic region on chromosome 4q31.1, and not previously associated with cancer, is, thus, a germline genetic marker for susceptibility to developing colon cancer metastases among Ashkenazi Jews.

Suggested Citation

  • Sanford D Markowitz & Nora L Nock & Stephanie L Schmit & Zsofia K Stadler & Vijai Joseph & Lu Zhang & Joseph E Willis & Peter Scacheri & Martina Veigl & Mark D Adams & Leon Raskin & John F Sullivan & , 2016. "A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis," PLOS ONE, Public Library of Science, vol. 11(1), pages 1-13, January.
    • Handle: RePEc:plo:pone00:0146435
    DOI: 10.1371/journal.pone.0146435
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