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rs138042437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3.5 Moderately higher (2-4 fold?) risk for prostate cancer
Make rs138042437(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position127196124
GeneCASC19
is asnp
is mentioned by
dbSNPrs138042437
ebirs138042437
HLIrs138042437
Exacrs138042437
Varsomers138042437
Maprs138042437
PheGenIrs138042437
hapmaprs138042437
1000 genomesrs138042437
hgdprs138042437
ensemblrs138042437
gopubmedrs138042437
geneviewrs138042437
scholarrs138042437
googlers138042437
pharmgkbrs138042437
gwascentralrs138042437
openSNPrs138042437
23andMers138042437
23andMe allrs138042437
SNP Nexus

SNPshotrs138042437
SNPdbers138042437
MSV3drs138042437
GWAS Ctlgrs138042437
Max Magnitude3.5

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.