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A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis.
- Source :
-
PloS one [PLoS One] 2016 Jan 11; Vol. 11 (1), pp. e0146435. Date of Electronic Publication: 2016 Jan 11 (Print Publication: 2016). - Publication Year :
- 2016
-
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.
- Subjects :
- Aged
Cohort Studies
Colonic Neoplasms ethnology
Female
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Genotype
Haplotypes
Humans
Jews
Linkage Disequilibrium
Male
Middle Aged
Models, Statistical
Neoplasm Metastasis pathology
Odds Ratio
Polymorphism, Single Nucleotide
Chromosomes, Human, Pair 4 genetics
Colonic Neoplasms genetics
Colonic Neoplasms pathology
Germ-Line Mutation
Neoplasm Metastasis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1932-6203
- Volume :
- 11
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- PloS one
- Publication Type :
- Academic Journal
- Accession number :
- 26751797
- Full Text :
- https://doi.org/10.1371/journal.pone.0146435