rs4464148 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 an increased risk for the minor rs4464148(C) allele; the OR for (C;C) homozygotes is 1.35 (CI: 1.2-1.51), and for (C;T) heterozygotes 1.10 (CI: 1.09-1.21), overall p=7x10-8.[PMID 17934461]
[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
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[PMID 21910156] Common colorectal cancer risk variants in SMAD7 are associated with survival among prediagnostic nonsteroidal anti-inflammatory drug users: a population-based study of postmenopausal women
[PMID 22505654] GWAS-identified colorectal cancer susceptibility loci associated with clinical outcomes
[PMID 19155440] Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.
[PMID 19357349] Association of common genetic variants in SMAD7 and risk of colon cancer.
[PMID 19395656] The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.
[PMID 22554650] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil
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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 25640388] Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer
[PMID 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results