| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common/normal
|
| (A;G)
|
3.5
|
Moderately higher (2-4 fold?) risk for prostate cancer
|
rs138042437 appears to mark a haplotype on chromosome 8 associated with increased risk for prostate cancer, based on a GWAS study of 2511 (unrelated) familial prostate cancer cases. In this cohort, the odds ratio for rs138042437 was 13.3 (CI: 5.4-23.7, p=1.7x10e-8), and an additional test for an excess number of affected carriers among relatives exhibited strong evidence for co-segregation of this variant with the disease (p = 8.5e-11). The majority (92 %) of risk-allele carriers at rs138042437 had a consistent estimated haplotype spanning approximately 100 kb of chromosome 8q24.21 containing the minor alleles of three SNPs: rs183373024, rs188140481 (which was in perfect linkage with rs138042437), and this SNP, rs138042437.[PMID 27262462
]
The authors of [PMID 27262462] state that due to sampling sizes, "the magnitude of the estimated effect size for (rs138042437) is likely over-stated"; it appears to be more in line with previous OR estimates of around 2. There was no association between this marker and how aggressive the prostate cancer was in carriers, and at this time, the functional basis of the association between the rare haplotype identified and prostate cancer is unclear.
]
