Impact of vitamin D receptor gene polymorphisms on clinical outcomes of HLA-matched sibling hematopoietic stem cell transplantation

Clin Transplant. May-Jun 2012;26(3):476-83. doi: 10.1111/j.1399-0012.2011.01523.x. Epub 2011 Oct 31.


We hypothesized that polymorphisms of the vitamin D receptor (VDR) gene might affect clinical outcomes of allogeneic hematopoietic stem cell transplantation (HSCT). Three VDR gene polymorphisms (BsmI G>A, ApaI G>T, and TaqI T>C) were genotyped in 147 patients who underwent HLA-matched sibling allogeneic HSCT. Frequencies of infection, graft-vs.-host disease (GVHD), overall survival (OS), and disease-free survival (DFS) were compared according to genotypes and haplotypes. Infection and acute GVHD had trends to be less frequent in patients with ApaI TT genotype than non-TT genotypes (p = 0.061 and p = 0.059, respectively). For TaqI genotypes, there were no statistical differences in frequency of infection and acute GVHD (p = 0.84 and p = 0.30, respectively), but TC genotype was associated with longer OS and DFS than TT genotype (p = 0.022 and p = 0.038, respectively). In the ApaI-TaqI haplotype analysis, patients with TC haplotype had significantly longer OS and DFS than those without TC haplotype (p = 0.022 and p = 0.038, respectively). In multivariable analysis, TaqI genotype and ApaI-TaqI haplotype of recipients were independent prognostic factors for both OS and DFS. This study suggests that the genotype and haplotype of VDR in recipient might be associated with clinical outcome of sibling HLA-matched HSCT.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Follow-Up Studies
  • Genotype
  • Graft vs Host Disease / etiology
  • Graft vs Host Disease / mortality*
  • HLA Antigens / immunology*
  • Hematopoietic Stem Cell Transplantation / adverse effects*
  • Histocompatibility
  • Humans
  • Leukemia, Myeloid / complications
  • Leukemia, Myeloid / mortality
  • Leukemia, Myeloid / therapy*
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Prognosis
  • Receptors, Calcitriol / genetics*
  • Siblings
  • Survival Rate
  • Young Adult


  • HLA Antigens
  • Receptors, Calcitriol