rs10761581

In a population-based study of 1,323 prostate cancer cases and 1,268 controls, the MSMB promoter SNP rs10993994:C>T was associated with increased prostate cancer risk (OR=1.31), with the variant allele associated with decreased PSP94 protein expression, particularly in tumor tissue. The NCOA4 SNP rs7350420:T>C showed a 15% reduction in cancer risk (OR=0.85, p=5.6×10⁻³), but this association was not independent of rs10993994:C>T. Protein expression analyses of 519 prostate tissue samples confirmed rs10993994:C>T's primary effect on PSP94 levels, with moderate associations observed for rs10761618:T>C and rs7085433:G>A with NCOA4 expression.

Case-control study of 127 African American prostate cancer cases and 345 controls from the Flint Men's Health Study examining 24 SNPs previously associated with prostate cancer in European populations. Found nominal evidence (P<0.05) for association with three 8q24 SNPs (rs6983561 OR=1.55, rs16901979 OR=1.60, rs7000448 OR=1.41) and two 10q11 SNPs (rs7904463, rs10740051 OR=0.51), replicating 8q24 findings in African Americans and providing first evidence for MSMB region association in this population.

This comprehensive resequence analysis of a 97 kb region on chromosome 10q11.2 containing the MSMB gene identified 241 novel polymorphisms in 70 individuals (36 prostate cancer cases, 26 controls of European origin, and 8 CEPH individuals). The study extensively characterized genetic variation in the 51 kb linkage disequilibrium block containing rs10993994 (the prostate cancer risk-associated SNP with OR=1.20, p=9.7×10⁻¹⁹), providing comprehensive coverage for fine-mapping studies of prostate cancer susceptibility.