rs4939827 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show a decreased risk for the minor rs4939827(C) allele; the OR for (C;C) homozygotes is 0.73 (CI: 0.66-0.8), and for (C;T) heterozygotes 0.86 (CI: 0.79-0.92), overall p=1x10-12.[PMID 17934461]
[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
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[PMID 20648012] Association studies on 11 published colorectal cancer risk loci.
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[PMID 21314996] Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
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[PMID 22235025] Susceptibility genetic variants associated with early-onset colorectal cancer.
[PMID 23875689] Colorectal Cancer-Susceptibility Single Nucleotide Polymorphisms in Korean Population
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[PMID 22848671] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
[PMID 22999960] Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
[PMID 23104301] Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.
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[PMID 25375357] Multiple Functional Risk Variants in a SMAD7 Enhancer Implicate a Colorectal Cancer Risk Haplotype
[PMID 25640388] Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer
[PMID 25873010] Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
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[PMID 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results