rs1041163

A functional study investigating uncommon VCAM1 promoter polymorphisms prevalent in African Americans. Using transfection-based transcriptional profiling, the authors identified that select rare variants (particularly c.-540A→G, rs3783605) are functionally hyperactive and create novel transcription factor binding sites. Chromatin immunoprecipitation confirmed that the rs3783605 variant creates an ETS2 binding site that is enriched in vivo. These findings suggest that VCAM1 regulatory variants may influence disease progression in conditions affecting African Americans.

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.