دورية أكاديمية
A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis
| العنوان: | A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis |
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| المؤلفون: | 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 |
| المجموعة: | RePEc (Research Papers in Economics) |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0146435Test; https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0146435&type=printableTest |
| DOI: | 10.1371/journal.pone.0146435 |
| DOI: | 10.1371/journal.pone.0146435&type=printable |
| الإتاحة: | https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0146435Test https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0146435&type=printableTest |
| رقم الانضمام: | edsbas.5E55D5B0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1371/journal.pone.0146435 |
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