{{Rsnum
|rsid=4242382
|Chromosome=8
|position=127505328
|Orientation=plus
|GMAF=0.1607
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 12.4 | 86.7
| HCB | 2.2 | 25.9 | 71.9
| JPT | 6.2 | 26.8 | 67.0
| YRI | 15.6 | 49.7 | 34.7
| ASW | 3.5 | 36.8 | 59.6
| CHB | 2.2 | 25.9 | 71.9
| CHD | 4.6 | 19.3 | 76.1
| GIH | 1.0 | 21.8 | 77.2
| LWK | 4.5 | 38.2 | 57.3
| MEX | 0.0 | 12.5 | 87.5
| MKK | 3.8 | 28.8 | 67.3
| TSI | 1.0 | 13.7 | 85.3
| HapMapRevision=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|OA=1
}} 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|OA=1
}} 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|OA=1
}} 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). 

{{ neighbor
| rsid = 4242384
| distance = 981
}}

{{ neighbor
| rsid = 7832031
| distance = 621
}}

{{PMID Auto GWAS
|PMID=18264096
|Trait=Prostate cancer
|Title=Multiple loci identified in a genome-wide association study of prostate cancer
|RiskAllele=A
|Pval=3E-19
|OR=1.66
|ORtxt=[1.47-1.87]
}}

{{PMID Auto
|PMID=18704501
|Title=Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
|OA=1
}}

{{PMID Auto
|PMID=19567509
|Title=Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
|OA=1
}}

{{PMID Auto
|PMID=19931040
|Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20039378
|Title=Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
|OA=1
}}

{{PMID Auto
|PMID=20450899
|Title=Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.
}}

{{PMID Auto
|PMID=20584312
|Title=8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=20690139
|Title=Meta-analysis of genome-wide and replication association studies on prostate cancer.
}}

{{PMID Auto
|PMID=21343373
|Title=Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.
|OA=1
}}

{{PMID Auto
|PMID=21390317
|Title=Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4242382
|overall_frequency_n=118
|overall_frequency_d=128
|overall_frequency=0.921875
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=101
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23532531
|Title=Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population
}}

{{PMID Auto
|PMID=23935004
|Title=Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}