Rs4242382

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.

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.

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.

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.

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).