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


[PMID 21075068] SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study

[PMID 21097774] Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

[PMID 21221812] A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population


[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


[PMID 24448986] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians


[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

rs4464148

Parent Gene: SMAD7

Importance: 1
Less common allele: C = 16%
More common allele: T = 84%
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