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Association of vitamin D receptor polymorphisms with the outcome of allogeneic haematopoietic stem cell transplantation
Author(s) -
BoguniaKubik K.,
Middleton P.,
Norden J.,
Dickinson A.,
Lange A.
Publication year - 2008
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2008.00758.x
Subject(s) - calcitriol receptor , transplantation , genotype , hematopoietic stem cell transplantation , allele , stem cell , haematopoiesis , immunology , medicine , vitamin d and neurology , biology , sibling , genetics , gene , psychology , developmental psychology
Summary Recently, vitamin D receptor (VDR) polymorphism has been identified as an additional genetic factor associated with the outcome after allogeneic haematopoietic stem cell transplantation (HSCT) from HLA‐matched sibling donors. In the present study, VDR Apa I, Taq I and Fok I alleles were typed using single strand conformation polymorphism in 123 Polish recipients and their sibling or alternative donors to test the associations of VDR polymorphisms with HSCT outcome. Four VDR genotypes were identified as risk factors of acute graft‐versus‐host disease (aGVHD). Donor Apa I AA (OR = 7.245, P = 0.009), source of HSC (OR = 7.001, P = 0.007), transplantation from an alternative donor (OR = 6.630, P = 0.007) and donor Fok I FF (OR = 4.473, P = 0.025) significantly contributed to the development of grades II–IV aGVHD, while recipient Apa I aa (OR = 3.233, P = 0.069), recipient Fok I FF (OR = 2.558, P = 0.077) and female to male transplants (OR = 2.955, P = 0.099) were found to be less significant factors. In addition, the presence of Apa I aa genotype in the recipient was found to be associated with increased likelihood of death ( P = 0.0228). The present study contributes to the studies demonstrating a role of VDR polymorphisms in HSCT outcome. In addition to previously described correlations of Apa I a allele and occurrence of severe grades III–IV aGVHD and (linked with Apa I aa) recipient Taq I TT genotype with aGVHD, the novel associations of recipient and donor Fok I FF genotype and the increased aGVHD risk and recipient Apa I aa with survival were identified.