From SNPedia
A study of 7000+ UK patients with
colorectal cancer identified two SNPs that increase disease risk, one of which is
rs4779584. Inheriting the
rs4779584(T) risk allele is estimated to increase overall risk odds by 1.26x (CI: 1.19-1.34, p=4x10e-14). When analyzing data between genotypes, the odds ratios reported for heterozygotes was 1.23x (CI:1.13-1.33), and for
rs4779584(T;T) homozygotes, 1.70 (CI: 1.41-2.04).[
PMID 18084292]
Inheriting the risk variant at both SNP loci (i.e. rs4779584 and rs6983267) is estimated to increase the overall risk of developing colorectal cancer about 3 fold. The authors of this study are quoted as saying that "the lifetime risk [of bowel cancer] is about 5% in the UK so it's going up to 7% or so if you've got both bad copies of a variant." nature
| ? | (C;C) (C;T) (T;T) |
 |
| 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
| 4.9999999999999998E-7
|
| Odds Ratio
| 1.23 [1.14-1.34]
|
Related to POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1
according to
omim 601228. See
also
[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort