Study of different genotypes of Vitamin-D Receptor (VDR) Gene Polymorphisms in Patients Eligible for Allogeneic Hematopoietic Stem Cell Transplantation (Allo-HSCT) from a Sibling Donor

Document Type : Original Article

Abstract

Background: Vitamin-D receptor (VDR) is found in both normal and neoplastic hemopoietic cells, and VDR gene
polymorphism may play an important role in the clinical outcome of HLA-matched sibling donor allogeneic
hematopoietic stem cell transplantation (allo-HSCT). The distribution of the genotypes in a given population would
affect the impact of the polymorphism in different conditions including the clinical outcome of HSCT.
Objectives: to study the different genotypes of VDR polymorphisms in patients eligible for sibling donor alloHSCT.
Patients and methods: Eighty-one patients undergoing allo-HSCT and their HLA-identical sibling donors were
examined using polymerase chain reaction for restriction fragment length polymorphism (PCR-RFLP) analysis for
FokI (rs10735810), ApaI (rs7975232) and TaqI (rs731236) polymorphisms.
Results: Patients’ genotype frequencies of the three VDR polymorphisms were as follows: for FokI: Heterozygous
(H) 76/78 (97.4%), mutant (M) 1/78 (1.3%) and wild (W) 1/78 (1.3%); for ApaI: (H) 26/72 (36.1%), (M) 7/72
(9.7%), and (W) 39/72 (54.2%); for TaqI: (H) 37/68 (54.4%) and (W) 31/68 (45.6%). While donors’ genotype
frequencies were as follows: for FokI: (W) 40/75 (53.4%), (H) 28/75 (37.3%) and (M) 7/75 (9.3%); for ApaI: (W)
31/66 (47.0%), (H) 28/66 (42.4%) and (M) 7/66 (10.6%); for TaqI: (W) 26/65 (40.0%), (H) 38/65 (58.5%) and (M)
1/65 (1.5%).
Conclusion: The genotype frequencies of VDR polymorphisms in our population were different from that of
Caucasians and Asian countries, and this variability of distribution could explain that there is ethnic variability in
vitamin D receptor gene polymorphisms.

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