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rs4779584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 average
(C;T) 2 1.23x risk for colorectal cancer
(T;T) 2 1.70x risk for colorectal cancer
ReferenceGRCh38 38.1/141
Chromosome15
Position32702555
is asnp
is mentioned by
dbSNPrs4779584
ebirs4779584
HLIrs4779584
Exacrs4779584
Varsomers4779584
Maprs4779584
PheGenIrs4779584
hapmaprs4779584
1000 genomesrs4779584
hgdprs4779584
ensemblrs4779584
gopubmedrs4779584
geneviewrs4779584
scholarrs4779584
googlers4779584
pharmgkbrs4779584
gwascentralrs4779584
openSNPrs4779584
23andMers4779584
23andMe allrs4779584
SNP Nexus

SNPshotrs4779584
SNPdbers4779584
MSV3drs4779584
GWAS Ctlgrs4779584
GMAF0.4578
Max Magnitude2
? (C;C) (C;T) (T;T) 28
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

This SNP has also been associated with increased colorectal cancer risk in a French study of 1,000+ patients.10.1038/ejhg.2015.72

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]
OMIM601228
DescPOLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1
Variant
Relatedalso

[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort


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

[PMID 21119214OA-icon.png] Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters

[PMID 21179028OA-icon.png] Replication study of SNP associations for colorectal cancer in Hong Kong Chinese


[PMID 21655089OA-icon.png] Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

GWAS snp
PMID [PMID 21761138OA-icon.png]
Trait
Title Meta-analysis of new genome-wide association studies of colorectal cancer risk.
Risk Allele
P-val 2E-8
Odds Ratio 1.1800 [1.11-1.24]


[PMID 22367214OA-icon.png] Characterization of gene-environment interactions for colorectal cancer susceptibility loci

[PMID 19011631OA-icon.png] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

[PMID 20437058OA-icon.png] The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

[PMID 20501757OA-icon.png] Low-penetrance susceptibility variants in familial colorectal cancer.

[PMID 20648012OA-icon.png] Association studies on 11 published colorectal cancer risk loci.

[PMID 21071539OA-icon.png] Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.

[PMID 21314996OA-icon.png] Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

[PMID 21402474] GWAS-identified colorectal cancer susceptibility locus associates with disease prognosis.

[PMID 22045029] Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.

[PMID 22235025] Susceptibility genetic variants associated with early-onset colorectal cancer.


GET Evidence
rs4779584
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.625
summary



GWAS snp
PMID [PMID 23266556OA-icon.png]
Trait Colorectal cancer
Title Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-wide Meta-analysis.
Risk Allele
P-val 5E-7
Odds Ratio 1.12 [1.08-1.19]


[PMID 23875689] Colorectal Cancer-Susceptibility Single Nucleotide Polymorphisms in Korean Population


[PMID 22848671OA-icon.png] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.


[PMID 22999960OA-icon.png] Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.


[PMID 23434150OA-icon.png] Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?


[PMID 24753543] Shared and Independent Colorectal Cancer Risk Alleles in TGFβ-related Genes in African and European Americans


[PMID 25873010] Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk


[PMID 27769063] Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.