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rs4242382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 1.7x increased risk for prostate cancer
(A;G) 2 1.7x increased risk for prostate cancer
(G;G) 0 normal risk
ReferenceGRCh38 38.1/141
Chromosome8
Position127505328
is asnp
is mentioned by
dbSNPrs4242382
ebirs4242382
HLIrs4242382
Exacrs4242382
Varsomers4242382
Maprs4242382
PheGenIrs4242382
hapmaprs4242382
1000 genomesrs4242382
hgdprs4242382
ensemblrs4242382
gopubmedrs4242382
geneviewrs4242382
scholarrs4242382
googlers4242382
pharmgkbrs4242382
gwascentralrs4242382
openSNPrs4242382
23andMers4242382
23andMe allrs4242382
SNP Nexus

SNPshotrs4242382
SNPdbers4242382
MSV3drs4242382
GWAS Ctlgrs4242382
GMAF0.1607
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs4242382 is one of 4 tightly linked SNPs in the "locus 1" region of 8q24 chromosomal region, which has been linked in several studies to prostate cancer, initially through rs1447295.[PMID 17925536]

In a study of 1,563 patients of European ancestry, the odds ratio for prostate cancer associated with risk genotypes of locus 1 were reported as 1.70 (CI: 1.39-2.07). Two other regions of chromosome 8q24 were also studied.[PMID 17925536]

[PMID 19366831OA-icon.png] Genotyping 13 SNPs (including this one) in 1,308 Caucasian prostate cancer patients led to the conclusion that while none of the SNP associations were as significant as having a first-degree family history of the disease, they did replicate. In fact, for rs4242382, the risk estimate varied by family history.

[PMID 19767755OA-icon.png] A joint-odds analysis indicates that rs4242382(A;A) individuals have increased prostate cancer odds of 3.15x or 1.77x if they are also carrying 2 or 1 rs620861(C) alleles, respectively.

[PMID 20978189OA-icon.png] A study of 776 prostate cancer cases and 1,444 controls concluded that pesticides, in particular the organophosphate insecticide fonofos, significantly increased disease risk to rs4242382 carriers. The per allele odd ratio for non-exposed SNP carriers of 1.17 (CI: 0.93-1.48) increased to an odds ratio of 1.30 (CI: 0.75-2.27) upon low exposure, and to 4.46 (CI: 2.17-9.17; P-interaction=0.002) upon high exposure. Similar increases were seen for three other organophosphate insecticides (coumaphos, terbufos, and phorate) and one pyrethroid insecticide (permethrin).

Neighborrs4242384
Distance981
Neighborrs7832031
Distance621
GWAS snp
PMID [PMID 18264096]
Trait Prostate cancer
Title Multiple loci identified in a genome-wide association study of prostate cancer
Risk Allele A
P-val 3E-19
Odds Ratio 1.66 [1.47-1.87]


[PMID 18704501OA-icon.png] Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.


[PMID 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.


[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.


[PMID 20039378OA-icon.png] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.


[PMID 20450899] Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.


[PMID 20584312OA-icon.png] 8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study.


[PMID 20690139] Meta-analysis of genome-wide and replication association studies on prostate cancer.


[PMID 21343373OA-icon.png] Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.


[PMID 21390317OA-icon.png] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.


GET Evidence
rs4242382
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.921875
summary



[PMID 23532531] Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population


[PMID 23935004OA-icon.png] Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia


[PMID 25683204] Prostate cancer screening using risk stratification based on a multi-state model of genetic variants