Genetic markers may help predict allogeneic SCT outcomes

SNP rs7958311, which had increased surface expression, was associated with a trend toward increased relapse risk (P = .053), and the loss-of-function SNP rs1653624 was associated with an excess of early transplant-related mortality (P = .0471).

“Individual SNPs are interesting, but perhaps more interesting are the haplotypes,” Dr. Ritchie said.

Sharon Worcester/MDedge News

Haplotype 2, which was found in 46 of the 333 allogeneic stem cell transplant recipients, involves gain-of-function rs178119 alone.

Haplotype 4, which was found in 8 recipients, involves rs1718119 and rs7958311. Those SNPs were previously shown to have 300% and 195% increased expression, respectively, with or without rs2230912, which has been shown to be decreased by 72%, and with or without loss of function rs1653624. Haplotype 4 is associated with a net increase in p2X7 activity, he explained.