rs4242382
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 127505328 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4242382 |
| dbSNP (classic) | rs4242382 |
| ClinGen | rs4242382 |
| ebi | rs4242382 |
| HLI | rs4242382 |
| Exac | rs4242382 |
| Gnomad | rs4242382 |
| Varsome | rs4242382 |
| LitVar | rs4242382 |
| Map | rs4242382 |
| PheGenI | rs4242382 |
| Biobank | rs4242382 |
| 1000 genomes | rs4242382 |
| hgdp | rs4242382 |
| ensembl | rs4242382 |
| geneview | rs4242382 |
| scholar | rs4242382 |
| rs4242382 | |
| pharmgkb | rs4242382 |
| gwascentral | rs4242382 |
| openSNP | rs4242382 |
| 23andMe | rs4242382 |
| SNPshot | rs4242382 |
| SNPdbe | rs4242382 |
| MSV3d | rs4242382 |
| GWAS Ctlg | rs4242382 |
| GMAF | 0.1607 |
| Max Magnitude | 2 |
| ? | (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 19366831
] 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 19767755] 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 20978189] 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).
| 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 18704501] Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
[PMID 20039378] 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 20584312] 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 21343373] Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.
[PMID 21390317] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
[PMID 23532531] Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population
[PMID 23935004] 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
[PMID 32295536] Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population.
