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

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 and Stephen B Gruber

PLOS ONE, 2016, vol. 11, issue 1, 1-13

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.

Date: 2016
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0146435

DOI: 10.1371/journal.pone.0146435

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