From SNPedia
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]
| ? | (C;C) (C;T) (T;T) |
|---|
 |
| GWAS snp
|
| PMID
| [PMID 18372901]
|
| Trait
| Colorectal cancer
|
| Title
| Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
|
| Risk Allele
| T
|
| P-val
| 7.9999999999999998E-28
|
| Odds Ratio
| 1.20 [1.16-1.24]
|
| GWAS snp
|
| PMID
| [PMID 18372905]
|
| Trait
| Colorectal cancer
|
| Title
| A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
|
| Risk Allele
|
|
| P-val
| 0.0000019999999999999999
|
| Odds Ratio
| 1.18 [1.10-1.25]
|
Related to COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3
according to
omim 612229. See
also
Related to COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7
according to
omim 612232. See
also
Related to MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7
according to
omim 602932. See
also
| PharmGKB | PA162356691 |
| Name | |
| Annotation | GWAS Results: A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk (Initial Sample Size: 940 cases, 965 controls; Replication Sample Size: 7,473 cases, 5,984 controls; Risk Allele: rs4939827-T). |
| Gene | SMAD7 |
| Featue | |
| Evidence | PubMed ID:17934461; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Colorectal Neoplasms |
| Curation Level | Non-Curated |
[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
